![Ben Domingue](https://profiles.stanford.edu/proxy/api/cap/profiles/70893/resources/profilephoto/350x350.1634592746943.jpg)
Ben Domingue
Associate Professor of Education and, by courtesy, of Sociology
Graduate School of Education
Web page: http://domingue.stanford.edu
Bio
Ben Domingue is an associate professor at the Graduate School of Education at Stanford University with research interests in psychometrics and quantitative methods. He is interested in how statistical tools can be used to better understand psychological and educational outcomes—e.g., what is this child’s reading ability?—that are challenging to measure and yet ubiquitous in education as well as the social and biomedical sciences more generally. To that end, he is leading development of a data resource (the Item Response Warehouse) meant to increase the availability and accessibility of data for psychometrics research.
Academic Appointments
-
Associate Professor, Graduate School of Education
-
Associate Professor (By courtesy), Sociology
-
Member, Bio-X
Administrative Appointments
-
Faculty Affiliate, Stanford Center for Longevity (2019 - Present)
-
Assistant Professor (by courtesy), Stanford Department of Sociology (2018 - Present)
-
Faculty Fellow, Stanford Population Health Sciences (2017 - Present)
-
Steering Committee, Stanford Center for Education Policy Analysis (2017 - Present)
-
Assistant Professor, Graduate School of Education, Stanford University (2015 - 2022)
-
Visiting Researcher, Population Research Center, The University of Texas at Austin (2014 - 2015)
-
Visiting Scholar, Colombian Institute for the Evaluation of Education (ICFES) (2013 - 2013)
-
Research Associate, Institute of Behavioral Science, University of Colorado Boulder (2012 - Present)
-
Graduate Research Assistant, School of Education & Institute of Behavioral Science, University of Colorado Boulder (2007 - 2012)
-
Teacher, Crested Butte Academy (2006 - 2007)
Honors & Awards
-
Research Fellow, Jacobs Foundation (2022-2024)
-
Faculty Advising Award, Student Guild, Stanford Graduate School of Education (2018)
-
Outstanding Reviewer, AERA Open (2018)
-
Quantitative Dissertation Award, American Educational Research Association Division D (Measurement and Research Methodology) (2013)
Professional Education
-
PhD, University of Colorado Boulder, Education (2012)
-
MA, University of Texas at Austin, Mathematics (2006)
-
BS, University of Texas at Austin, Mathematics (2001)
Research Interests
-
Assessment, Testing and Measurement
-
Child Development
-
Data Sciences
-
Educational Policy
-
Psychology
-
Research Methods
-
Sociology
Current Research and Scholarly Interests
The following are examples of the kinds of questions that he gets excited about studying (with the essential help of many collaborators):
--As response time is collected in a broader range of psychometric studies, how should it be used? Response time is a potentially valuable piece of information about the response process but it is not always clear how it should be interpreted. One issue that we have focused on is whether the speed-accuracy tradeoff—the observation that people make more error-prone responses when hurried—arises absent priming in observational data (“Speed-accuracy tradeoff? Not so fast: Marginal changes in speed have inconsistent relationships with accuracy in real-world settings”). A related question is whether it can be potentially used to study group differences on low-stakes examinations (“Differences in time usage as a competing hypothesis for observed group differences in accuracy with an application to observed gender differences in PISA data.”).
--How can we better index prediction quality from models of binary outcomes? Our work leverages the fact that prediction quality can be translated to statements about weighted coins and introduces an index that has an interpretation which is consistently interpretable across a range of outcomes. Alongside our development of this idea in a generic setting (“InterModel Vigorish (IMV): A novel approach for quantifying predictive accuracy when outcomes are binary”), we also have done work to show how it can be used in both item response theory (“The InterModel Vigorish as a lens for understanding (and quantifying) the value of item response models for dichotomously coded items”) and structural equation models (“The InterModel Vigorish for Model Comparison in Confirmatory Factor Analysis with Binary Outcomes”).
--Can we use psychometric approaches to further our understanding of what we are learning from large experiments in education? Conventional approaches to understanding treatment effects frequently focus on outcomes that are composites of individual items. We ask whether we can identify and observe item-level variation in treatment sensitivity (“Heterogeneity of item-treatment interactions masks complexity and generalizability in randomized controlled trials”). Such variation may offer useful information about the nature of the intervention and the skills it is affecting. We also demonstrate that variation in item-level treatment sensitivity can potentially complicate inferences about heterogeneous treatment effects ("Disentangling Person-Dependent and Item-Dependent Causal Effects: Applications of Item Response Theory to the Estimation of Treatment Effect Heterogeneity").
Information on above titles along with a full list of publications can be found in his CV.
2023-24 Courses
- Introduction to Psychometrics
EDUC 252 (Win) - Introduction to Psychometrics - Lab
EDUC 252L (Spr) - Introduction to Statistical Methods in Education
EDUC 400A (Aut) -
Independent Studies (5)
- Curricular Practical Training
EDUC 437 (Sum) - Directed Reading
EDUC 480 (Aut, Win, Spr, Sum) - Directed Reading in Education
EDUC 180 (Aut, Win, Spr, Sum) - Directed Research
EDUC 490 (Aut, Win, Spr, Sum) - Directed Research in Education
EDUC 190 (Aut, Win, Spr, Sum)
- Curricular Practical Training
-
Prior Year Courses
2022-23 Courses
- Introduction to Statistical Methods in Education
EDUC 400A (Aut) - Problems in Measurement: Item Response Theory
EDUC 353A (Win) - Simulation in Education Research
EDUC 452 (Spr)
2021-22 Courses
- Introduction to Test Theory
EDUC 252 (Win) - Introduction to Test Theory - Lab
EDUC 252L (Win) - Simulation in Education Research
EDUC 452 (Spr)
2020-21 Courses
- Advanced Topics in Quantitative Policy Analysis
EDUC 339 (Aut) - Introduction to Test Theory
EDUC 252 (Win) - Introduction to Test Theory - Lab
EDUC 252L (Win) - Problems in Measurement: Item Response Theory
EDUC 353A (Spr)
- Introduction to Statistical Methods in Education
Stanford Advisees
-
Doctoral Dissertation Reader (AC)
Kelly Boles, Radhika Kapoor, Julian Siebert, Lily Steyer -
Doctoral Dissertation Advisor (AC)
Ajay Tripathi -
Doctoral Dissertation Co-Advisor (AC)
Ishita Ahmed, Catie Connolly -
Master's Program Advisor
Lucia Langlois -
Doctoral (Program)
Ishita Ahmed, Kruttika Bhat, Catie Connolly, Mike Hardy, Mridul Joshi, Radhika Kapoor, Hansol Lee, Léon Marbach, Roza Nalbandyan, Lily Steyer, Lijin Zhang
All Publications
-
Heterogeneity of Item-Treatment Interactions Masks Complexity and Generalizability in Randomized Controlled Trials
JOURNAL OF RESEARCH ON EDUCATIONAL EFFECTIVENESS
2024
View details for DOI 10.1080/19345747.2024.2361337
View details for Web of Science ID 001268996500001
-
The InterModel Vigorish as a Lens for Understanding (and Quantifying) the Value of Item Response Models for Dichotomously Coded Items.
Psychometrika
2024
Abstract
The deployment of statistical models-such as those used in item response theory-necessitates the use of indices that are informative about the degree to which a given model is appropriate for a specific data context. We introduce the InterModel Vigorish (IMV) as an index that can be used to quantify accuracy for models of dichotomous item responses based on the improvement across two sets of predictions (i.e., predictions from two item response models or predictions from a single such model relative to prediction based on the mean). This index has a range of desirable features: It can be used for the comparison of non-nested models and its values are highly portable and generalizable. We use this fact to compare predictive performance across a variety of simulated data contexts and also demonstrate qualitative differences in behavior between the IMV and other common indices (e.g., the AIC and RMSEA). We also illustrate the utility of the IMV in empirical applications with data from 89 dichotomous item response datasets. These empirical applications help illustrate how the IMV can be used in practice and substantiate our claims regarding various aspects of model performance. These findings indicate that the IMV may be a useful indicator in psychometrics, especially as it allows for easy comparison of predictions across a variety of contexts.
View details for DOI 10.1007/s11336-024-09977-2
View details for PubMedID 38829495
View details for PubMedCentralID 6603289
-
Disentangling Person-Dependent and Item-Dependent Causal Effects: Applications of Item Response Theory to the Estimation of Treatment Effect Heterogeneity
JOURNAL OF EDUCATIONAL AND BEHAVIORAL STATISTICS
2024
View details for DOI 10.3102/10769986241240085
View details for Web of Science ID 001197208400001
-
Ubiquitous Bias and False Discovery Due to Model Misspecification in Analysis of Statistical Interactions: The Role of the Outcome's Distribution and Metric Properties
PSYCHOLOGICAL METHODS
2022
Abstract
Studies of interaction effects are of great interest because they identify crucial interplay between predictors in explaining outcomes. Previous work has considered several potential sources of statistical bias and substantive misinterpretation in the study of interactions, but less attention has been devoted to the role of the outcome variable in such research. Here, we consider bias and false discovery associated with estimates of interaction parameters as a function of the distributional and metric properties of the outcome variable. We begin by illustrating that, for a variety of noncontinuously distributed outcomes (i.e., binary and count outcomes), attempts to use the linear model for recovery leads to catastrophic levels of bias and false discovery. Next, focusing on transformations of normally distributed variables (i.e., censoring and noninterval scaling), we show that linear models again produce spurious interaction effects. We provide explanations offering geometric and algebraic intuition as to why interactions are a challenge for these incorrectly specified models. In light of these findings, we make two specific recommendations. First, a careful consideration of the outcome's distributional properties should be a standard component of interaction studies. Second, researchers should approach research focusing on interactions with heightened levels of scrutiny. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
View details for DOI 10.1037/met0000532
View details for Web of Science ID 000864334100001
View details for PubMedID 36201820
-
Essay content and style are strongly related to household income and SAT scores: Evidence from 60,000 undergraduate applications.
Science advances
2021; 7 (42): eabi9031
Abstract
[Figure: see text].
View details for DOI 10.1126/sciadv.abi9031
View details for PubMedID 34644119
-
The Earliest Origins of Genetic Nurture: The Prenatal Environment Mediates the Association Between Maternal Genetics and Child Development.
Psychological science
2020: 956797620917209
Abstract
Observed genetic associations with educational attainment may be due to direct or indirect genetic influences. Recent work highlights genetic nurture, the potential effect of parents' genetics on their child's educational outcomes via rearing environments. To date, few mediating childhood environments have been tested. We used a large sample of genotyped mother-child dyads (N = 2,077) to investigate whether genetic nurture occurs via the prenatal environment. We found that mothers with more education-related genes are generally healthier and more financially stable during pregnancy. Further, measured prenatal conditions explain up to one third of the associations between maternal genetics and children's academic and developmental outcomes at the ages of 4 to 7 years. By providing the first evidence of prenatal genetic nurture and showing that genetic nurture is detectable in early childhood, this study broadens our understanding of how parental genetics may influence children and illustrates the challenges of within-person interpretation of existing genetic associations.
View details for DOI 10.1177/0956797620917209
View details for PubMedID 32484377
-
Short-term mental health sequelae of bereavement predict long-term physical health decline in older adults: US Health and Retirement Study Analysis.
The journals of gerontology. Series B, Psychological sciences and social sciences
2020
Abstract
OBJECTIVE: Spousal death is a common late-life event with health-related sequelae. Evidence linking poor mental health to disease suggests the hypothesis that poor mental health following death of a spouse could be a harbinger of physical health decline. Thus, identification of bereavement-related mental health symptoms could provide an opportunity for prevention.METHODS: We analyzed data from N=39,162 individuals followed from 1994-2016 in the US Health and Retirement Study; N=5,061 were widowed during follow-up. We tested change in mental and physical health from pre-bereavement through the 5-years following spousal death.RESULTS: Bereaved spouses experienced an increase in depressive symptoms following their spouses' deaths but the depressive shock attenuated within one year. Bereaved spouses experienced increases in disability, chronic-disease morbidity, and hospitalization, which grew in magnitude over time, especially among older respondents. Bereaved spouses were at increased risk of death compared to non-bereaved respondents. The magnitude of depressive symptoms in the immediate aftermath of spousal death predicted physical-health decline and mortality risk over 5 years of follow-up.DISCUSSION: Bereavement-related depressive symptoms indicate a risk for physical health decline and death in older adults. Screening for depressive symptoms in bereaved older adults may represent an opportunity for intervention to preserve healthy lifespan.
View details for DOI 10.1093/geronb/gbaa044
View details for PubMedID 32246152
-
Genetic analysis of social-class mobility in five longitudinal studies
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2018; 115 (31): E7275–E7284
Abstract
A summary genetic measure, called a "polygenic score," derived from a genome-wide association study (GWAS) of education can modestly predict a person's educational and economic success. This prediction could signal a biological mechanism: Education-linked genetics could encode characteristics that help people get ahead in life. Alternatively, prediction could reflect social history: People from well-off families might stay well-off for social reasons, and these families might also look alike genetically. A key test to distinguish biological mechanism from social history is if people with higher education polygenic scores tend to climb the social ladder beyond their parents' position. Upward mobility would indicate education-linked genetics encodes characteristics that foster success. We tested if education-linked polygenic scores predicted social mobility in >20,000 individuals in five longitudinal studies in the United States, Britain, and New Zealand. Participants with higher polygenic scores achieved more education and career success and accumulated more wealth. However, they also tended to come from better-off families. In the key test, participants with higher polygenic scores tended to be upwardly mobile compared with their parents. Moreover, in sibling-difference analysis, the sibling with the higher polygenic score was more upwardly mobile. Thus, education GWAS discoveries are not mere correlates of privilege; they influence social mobility within a life. Additional analyses revealed that a mother's polygenic score predicted her child's attainment over and above the child's own polygenic score, suggesting parents' genetics can also affect their children's attainment through environmental pathways. Education GWAS discoveries affect socioeconomic attainment through influence on individuals' family-of-origin environments and their social mobility.
View details for PubMedID 29987013
-
The social genome of friends and schoolmates in the National Longitudinal Study of Adolescent to Adult Health
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2018; 115 (4): 702–7
Abstract
Humans tend to form social relationships with others who resemble them. Whether this sorting of like with like arises from historical patterns of migration, meso-level social structures in modern society, or individual-level selection of similar peers remains unsettled. Recent research has evaluated the possibility that unobserved genotypes may play an important role in the creation of homophilous relationships. We extend this work by using data from 5,500 adolescents from the National Longitudinal Study of Adolescent to Adult Health (Add Health) to examine genetic similarities among pairs of friends. Although there is some evidence that friends have correlated genotypes, both at the whole-genome level as well as at trait-associated loci (via polygenic scores), further analysis suggests that meso-level forces, such as school assignment, are a principal source of genetic similarity between friends. We also observe apparent social-genetic effects in which polygenic scores of an individual's friends and schoolmates predict the individual's own educational attainment. In contrast, an individual's height is unassociated with the height genetics of peers.
View details for PubMedID 29317533
-
Mortality selection in a genetic sample and implications for association studies.
International journal of epidemiology
2017
Abstract
Mortality selection occurs when a non-random subset of a population of interest has died before data collection and is unobserved in the data. Mortality selection is of general concern in the social and health sciences, but has received little attention in genetic epidemiology. We tested the hypothesis that mortality selection may bias genetic association estimates, using data from the US-based Health and Retirement Study (HRS).We tested mortality selection into the HRS genetic database by comparing HRS respondents who survive until genetic data collection in 2006 with those who do not. We next modelled mortality selection on demographic, health and social characteristics to calculate mortality selection probability weights. We analysed polygenic score associations with several traits before and after applying inverse-probability weighting to account for mortality selection. We tested simple associations and time-varying genetic associations (i.e. gene-by-cohort interactions).We observed mortality selection into the HRS genetic database on demographic, health and social characteristics. Correction for mortality selection using inverse probability weighting methods did not change simple association estimates. However, using these methods did change estimates of gene-by-cohort interaction effects. Correction for mortality selection changed gene-by-cohort interaction estimates in the opposite direction from increased mortality selection based on analysis of HRS respondents surviving through 2012.Mortality selection may bias estimates of gene-by-cohort interaction effects. Analyses of HRS data can adjust for mortality selection associated with observables by including probability weights. Mortality selection is a potential confounder of genetic association studies, but the magnitude of confounding varies by trait.
View details for DOI 10.1093/ije/dyx041
View details for PubMedID 28402496
-
Genetic Heterogeneity in Depressive Symptoms Following the Death of a Spouse: Polygenic Score Analysis of the U.S. Health and Retirement Study.
American journal of psychiatry
2017: appiajp201716111209-?
Abstract
Experience of stressful life events is associated with risk of depression. Yet many exposed individuals do not become depressed. A controversial hypothesis is that genetic factors influence vulnerability to depression following stress. This hypothesis is often tested with a "diathesis-stress" model, in which genes confer excess vulnerability. The authors tested an alternative formulation of this model: genes may buffer against depressogenic effects of life stress.The hypothesized genetic buffer was measured using a polygenic score derived from a published genome-wide association study of subjective well-being. The authors tested whether married older adults who had higher polygenic scores were less vulnerable to depressive symptoms following the death of their spouse compared with age-matched peers who had also lost their spouse and who had lower polygenic scores. Data were analyzed from 8,588 non-Hispanic white adults in the Health and Retirement Study (HRS), a population-representative longitudinal study of older adults in the United States.HRS adults with higher well-being polygenic scores experienced fewer depressive symptoms during follow-up. Those who survived the death of their spouses (N=1,647) experienced a sharp increase in depressive symptoms following the death and returned toward baseline over the following 2 years. Having a higher well-being polygenic score buffered against increased depressive symptoms following a spouse's death.The effects were small, and the clinical relevance is uncertain, although polygenic score analyses may provide clues to behavioral pathways that can serve as therapeutic targets. Future studies of gene-environment interplay in depression may benefit from focus on genetics discovered for putative protective factors.
View details for DOI 10.1176/appi.ajp.2017.16111209
View details for PubMedID 28335623
-
Polygenic Risk Predicts Obesity in Both White and Black Young Adults
PLOS ONE
2014; 9 (7)
Abstract
To test transethnic replication of a genetic risk score for obesity in white and black young adults using a national sample with longitudinal data.A prospective longitudinal study using the National Longitudinal Study of Adolescent Health Sibling Pairs (n = 1,303). Obesity phenotypes were measured from anthropometric assessments when study members were aged 18-26 and again when they were 24-32. Genetic risk scores were computed based on published genome-wide association study discoveries for obesity. Analyses tested genetic associations with body-mass index (BMI), waist-height ratio, obesity, and change in BMI over time.White and black young adults with higher genetic risk scores had higher BMI and waist-height ratio and were more likely to be obese compared to lower genetic risk age-peers. Sibling analyses revealed that the genetic risk score was predictive of BMI net of risk factors shared by siblings. In white young adults only, higher genetic risk predicted increased risk of becoming obese during the study period. In black young adults, genetic risk scores constructed using loci identified in European and African American samples had similar predictive power.Cumulative information across the human genome can be used to characterize individual level risk for obesity. Measured genetic risk accounts for only a small amount of total variation in BMI among white and black young adults. Future research is needed to identify modifiable environmental exposures that amplify or mitigate genetic risk for elevated BMI.
View details for DOI 10.1371/journal.pone.0101596
View details for Web of Science ID 000341253400095
View details for PubMedID 24992585
-
Genetic and educational assortative mating among US adults
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2014; 111 (22): 7996-8000
Abstract
Understanding the social and biological mechanisms that lead to homogamy (similar individuals marrying one another) has been a long-standing issue across many fields of scientific inquiry. Using a nationally representative sample of non-Hispanic white US adults from the Health and Retirement Study and information from 1.7 million single-nucleotide polymorphisms, we compare genetic similarity among married couples to noncoupled pairs in the population. We provide evidence for genetic assortative mating in this population but the strength of this association is substantially smaller than the strength of educational assortative mating in the same sample. Furthermore, genetic similarity explains at most 10% of the assortative mating by education levels. Results are replicated using comparable data from the Framingham Heart Study.
View details for DOI 10.1073/pnas.1321426111
View details for Web of Science ID 000336687900041
View details for PubMedID 24843128
-
Evaluating the Equal-Interval Hypothesis with Test Score Scales
PSYCHOMETRIKA
2014; 79 (1): 1-19
Abstract
The axioms of additive conjoint measurement provide a means of testing the hypothesis that testing data can be placed onto a scale with equal-interval properties. However, the axioms are difficult to verify given that item responses may be subject to measurement error. A Bayesian method exists for imposing order restrictions from additive conjoint measurement while estimating the probability of a correct response. In this study an improved version of that methodology is evaluated via simulation. The approach is then applied to data from a reading assessment intentionally designed to support an equal-interval scaling.
View details for DOI 10.1007/s11336-013-9342-4
View details for Web of Science ID 000331802000001
View details for PubMedID 24532164
-
How social and genetic factors predict friendship networks
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2012; 109 (43): 17377-17381
Abstract
Recent research suggests that the genotype of one individual in a friendship pair is predictive of the genotype of his/her friend. These results provide tentative support for the genetic homophily perspective, which has important implications for social and genetic epidemiology because it substantiates a particular form of gene-environment correlation. This process may also have important implications for social scientists who study the social factors related to health and health-related behaviors. We extend this work by considering the ways in which school context shapes genetically similar friendships. Using the network, school, and genetic information from the National Longitudinal Study of Adolescent Health, we show that genetic homophily for the TaqI A polymorphism within the DRD2 gene is stronger in schools with greater levels of inequality. Our results suggest that individuals with similar genotypes may not actively select into friendships; rather, they may be placed into these contexts by institutional mechanisms outside of their control. Our work highlights the fundamental role played by broad social structures in the extent to which genetic factors explain complex behaviors, such as friendships.
View details for DOI 10.1073/pnas.1208975109
View details for Web of Science ID 000311147800022
View details for PubMedID 23045663
-
Development and validation of a Spanish version of the Obstetric Quality of Recovery-10 item score (ObsQoR-10-Spanish).
BJA open
2024; 10: 100269
Abstract
Spanish is the second most spoken language globally with around 475 million native speakers. We aimed to validate a Spanish version of the Obstetric Quality of Recovery-10 item (ObsQoR-10) patient-reported outcome measure.ObsQoR-10-Spanish was developed using EuroQoL methodology. ObsQoR-10-Spanish was assessed in 100 Spanish-speaking patients undergoing elective Caesarean or vaginal delivery. Patients <38 weeks, undergoing an intrapartum Caesarean delivery, intrauterine death, or maternal admission to the intensive care unit (ICU) were excluded. Validity was assessed by evaluating (i) convergent validity-correlation with 24-h EuroQoL and global health visual analogue scale (GHVAS) scores (0-100); (ii) discriminant validity-difference in ObsQoR-10-Spanish score for patients with GHVAS scores >70 vs <70; (iii) hypothesis testing-correlation of ObsQoR score with maternal and neonatal factors; and (iv) cross-cultural validity assessed using differential item functioning analysis. Reliability was assessed by evaluating: (i) internal consistency; (ii) split-half reliability and (iii) test-retest reliability; and (iv) floor and ceiling effects.One hundred patients were approached, recruited, and completed surveys. Validity: (i) convergent validity: the ObsQoR 24-h score correlated moderately with the 24-h EuroQoL (r=-0.632) and GHVAS scores (r=0.590); (ii) discriminant validity: the ObsQoR-10-Spanish 24-h scores were higher in women who delivered vaginally compared to via Caesarean delivery, (mean [standard deviation] scores were 89 [9] vs 81 [12]; P<0.001). The 24-h ObsQoR-Spanish scores were lower in patients experiencing a poor vs a good recovery (mean [standard deviation] scores were 76 [12.3] vs 87.1 [10.6]; P=0.001); (iii) hypothesis testing: the ObsQoR-10 score correlated negatively with age (r=-0.207) and positively with 5-min (r=0.204) and 10-min (r=0.243) Apgar scores. Remaining correlations were not significant; and (iv) differential item functioning analysis suggested no potential bias among the 10 items. Reliability: (i) internal consistency was good (Cronbach alpha=0.763); (ii) split-half reliability was good (Spearman-Brown prophesy reliability estimate of 0.866); (iii) test-retest reliability was excellent with an intra-class correlation coefficient of 0.90; and (iv) floor and ceiling effects: six patients scored a maximum total ObsQoR-10 score.The ObsQoR-10-Spanish patient-reported outcome measure is valid, reliable, and clinically feasible, and should be considered for use in Spanish-speaking women to assess quality of inpatient postpartum recovery.
View details for DOI 10.1016/j.bjao.2024.100269
View details for PubMedID 38560622
View details for PubMedCentralID PMC10978479
-
Reweighting UK Biobank corrects for pervasive selection bias due to volunteering.
International journal of epidemiology
2024; 53 (3)
Abstract
Biobanks typically rely on volunteer-based sampling. This results in large samples (power) at the cost of representativeness (bias). The problem of volunteer bias is debated. Here, we (i) show that volunteering biases associations in UK Biobank (UKB) and (ii) estimate inverse probability (IP) weights that correct for volunteer bias in UKB.Drawing on UK Census data, we constructed a subsample representative of UKB's target population, which consists of all individuals invited to participate. Based on demographic variables shared between the UK Census and UKB, we estimated IP weights (IPWs) for each UKB participant. We compared 21 weighted and unweighted bivariate associations between these demographic variables to assess volunteer bias.Volunteer bias in all associations, as naively estimated in UKB, was substantial-in some cases so severe that unweighted estimates had the opposite sign of the association in the target population. For example, older individuals in UKB reported being in better health, in contrast to evidence from the UK Census. Using IPWs in weighted regressions reduced 87% of volunteer bias on average. Volunteer-based sampling reduced the effective sample size of UKB substantially, to 32% of its original size.Estimates from large-scale biobanks may be misleading due to volunteer bias. We recommend IP weighting to correct for such bias. To aid in the construction of the next generation of biobanks, we provide suggestions on how to best ensure representativeness in a volunteer-based design. For UKB, IPWs have been made available.
View details for DOI 10.1093/ije/dyae054
View details for PubMedID 38715336
View details for PubMedCentralID PMC11076923
-
A graph theory based similarity metric enables comparison of subpopulation psychometric networks.
Psychological methods
2023
Abstract
Network psychometrics leverages pairwise Markov random fields to depict conditional dependencies among a set of psychological variables as undirected edge-weighted graphs. Researchers often intend to compare such psychometric networks across subpopulations, and recent methodological advances provide invariance tests of differences in subpopulation networks. What remains missing, though, is an analogue to an effect size measure that quantifies differences in psychometric networks. We address this gap by complementing recent advances for investigating whether psychometric networks differ with an intuitive similarity measure quantifying the extent to which networks differ. To this end, we build on graph-theoretic approaches and propose a similarity measure based on the Frobenius norm of differences in psychometric networks' weighted adjacency matrices. To assess this measure's utility for quantifying differences between psychometric networks, we study how it captures differences in subpopulation network models implied by both latent variable models and Gaussian graphical models. We show that a wide array of network differences translates intuitively into the proposed measure, while the same does not hold true for customary correlation-based comparisons. In a simulation study on finite-sample behavior, we show that the proposed measure yields trustworthy results when population networks differ and sample sizes are sufficiently large, but fails to identify exact similarity when population networks are the same. From these results, we derive a strong recommendation to only use the measure as a complement to a significant test for network similarity. We illustrate potential insights from quantifying psychometric network similarities through cross-country comparisons of human values networks. (PsycInfo Database Record (c) 2023 APA, all rights reserved).
View details for DOI 10.1037/met0000625
View details for PubMedID 38127572
-
Predicting pediatric healthcare provider use of virtual reality using a technology acceptance model.
JAMIA open
2023; 6 (3): ooad076
Abstract
The primary aim of this study was to apply a novel technology acceptance model (TAM) for virtual reality (VR) in healthcare. The secondary aim was to assess reliability of this model to evaluate factors that predict the intentions of pediatric health providers' use of VR as an anxiolytic for hospitalized pediatric patients.Healthcare providers that interacted with pediatric patients participated in a VR experience available as anxiolysis for minor procedures and then completed a survey evaluating attitudes, behaviors, and technology factors that influence adoption of new technologies.Reliability for all domain measurements were good, and all confirmatory factor analysis models demonstrated good fit. Usefulness, ease of use, curiosity, and enjoyment of the VR experience all strongly predict intention to use and purchase VR technologies. Age of providers, past use, and cost of technology did not influence future purchase or use, suggesting that VR technologies may be broadly adopted in the pediatric healthcare setting.Previous VR-TAM models in non-healthcare consumers formulated that age, past use, price willing to pay, and curiosity impacted perceived ease of use. This study established that age, past use, and cost may not influence use in healthcare. Future studies should be directed at evaluating the social influences and facilitating conditions within healthcare that play a larger influence on technology adoption.The VR-TAM model demonstrated validity and reliability for predicting intent to use VR in a pediatric hospital.
View details for DOI 10.1093/jamiaopen/ooad076
View details for PubMedID 37693368
View details for PubMedCentralID PMC10483581
-
Reliability and validity of the Shona version of the Exercise Benefits and Barriers Scale in Zimbabwean adult people living with HIV/AIDS.
Frontiers in psychiatry
2023; 14: 1188689
Abstract
Despite the widely known benefits of physical activity (PA), only 25% of people living with HIV (PLHIV) meet the WHO-recommended minimum PA levels. Consequently, it is essential to understand PA barriers and facilitators using objective measures. Although the Exercise Benefits and Barriers Scale (EBBS) is extensively used, its psychometric evidence is fragmented and has not been previously validated in PLHIV. This study aimed to translate and validate the EBBS Shona version in Zimbabwean PLHIV.A cross-sectional study was used to recruit 567 PLHIV from four (4/9) randomly selected polyclinics (primary healthcare facilities) in urban Harare, Zimbabwe. We recruited adult patients (aged ≥18 years) with a confirmed diagnosis of HIV. Participants had to be willing to provide informed consent, not acutely unwell, and proficient in the Shona language. We used a forward-backwards translation method to translate the EBBS from English to Shona, a native Zimbabwean language. After cross-cultural adaptation, we pretested the draft version in 10 PLHIV to assess the face validity, understandability and cultural appropriateness using semi-structured interviews. Thereafter, the EBBS was administered to 567 consecutively-selected PLHIV. Factor analyses were performed for construct validity evaluation.Most participants were female (72.5%) and reached secondary/high school (78.8%), with a mean age of 39.9 (SD 12.1) years. The EBBS-Shona version yielded a four-factor solution consisting of three benefits factors and one barrier factor against the originally postulated six-factor structure. The EBBS-Shona yielded α = 0.85 and intraclass correlation coefficient = 0.86, demonstrating excellent reliability. Increased perception of exercise benefits was positively correlated with increased reports of physical activity, higher health-related quality of life and lower psychiatric morbidity; evidence for construct validity.This study demonstrates the validity and reliability of the EBBS-Shona version in Zimbabwean PLHIV. The EBBS-Shona version can be used for research and clinical purposes to glean data to inform the development, implementation, and evaluation of bespoke PA interventions for PLHIV.
View details for DOI 10.3389/fpsyt.2023.1188689
View details for PubMedID 37692308
View details for PubMedCentralID PMC10483228
-
A Multidimensional Partially Compensatory Response Time Model on Basis of the Log-Normal Distribution
JOURNAL OF EDUCATIONAL AND BEHAVIORAL STATISTICS
2023
View details for DOI 10.3102/10769986231184153
View details for Web of Science ID 001026170300001
-
A Probabilistic Filtering Approach to Non-Effortful Responding
EDUCATIONAL MEASUREMENT-ISSUES AND PRACTICE
2023
View details for DOI 10.1111/emip.12567
View details for Web of Science ID 001006399200001
-
The distribution of child physicians and early academic achievement.
Health services research
2023
Abstract
To describe the distribution of pediatricians and family physicians (child physicians) across school districts and examine the association between physician supply and third-grade test scores.Data come from the January 2020 American Medical Association Physician Masterfile, the 2009-2013 and 2014-2018 waves of American Community Survey 5-Year Data, and the Stanford Education Data Archive (SEDA), which uses test scores from all U.S. public schools. We use covariate data provided by SEDA to describe student populations.This descriptive analysis constructs a physician-to-child-population ratio for every school district in the country and describes the child population served by the current distribution of physicians. We fit a set of multivariable regression models to estimate the associations between district test score outcomes and district physician supply. Our model includes state fixed effects to control for unobservable state-level factors, as well as a covariate vector of sociodemographic characteristics.Public data from three sources were matched by district ID.Physicians are highly unequally distributed across districts: nearly 3640 (29.6%) of 12,297 districts have no child physician, which includes 49% of rural districts. Rural children of color in particular have very little access to pediatric care, and this inequality is more extreme when looking exclusively at pediatricians. Districts that have higher child physician supplies tend to have higher academic test scores in early education, independent of community socioeconomic status and racial/ethnic composition. While the national data show this positive relationship (0.012 SD, 95% CI, 0.0103-0.0127), it is most pronounced for districts in the bottom tertile of physician supply (0.163 SD, 95% CI, 0.108-0.219).Our study demonstrates a highly unequal distribution of child physicians in the U.S., and that children with less access to physicians have lower academic performance in early education.
View details for DOI 10.1111/1475-6773.14188
View details for PubMedID 37286180
-
The mode effect of web-based surveying on the 2018 HRS measure of cognitive functioning.
The journals of gerontology. Series B, Psychological sciences and social sciences
2023
Abstract
OBJECTIVES: Measuring cognition in an aging population is a public health priority. A move towards survey measurement via the web (as opposed to phone or in-person) is cost effective but challenging as it may induce bias in cognitive measures. We examine this possibility using an experiment embedded in the 2018 wave of data collection for the US Health and Retirement Study (HRS).METHODS: We utilize techniques from multiple group item response theory to assess the effect of survey mode on performance on the HRS cognitive measure. We also study the problem of attrition by attempting to predict dropout and via approaches meant to minimize bias in subsequent inferences due to attrition.RESULTS: We find evidence of an increase in scores for HRS respondents who are randomly assigned to the web-based mode of data collection in 2018. Web-based respondents score higher in 2018 than do phone-based respondents, and they show much larger gains relative to 2016 performance and subsequently larger declines in 2020. The bias in favor of web-based responding is observed across all items, but most pronounced for the serial 7 task and numeracy items. Due to the relative ease of the web-based mode, we suggest a cutscore of 12 being used to indicate CIND (cognitively impaired but not demented) status when using the web-based version rather than 11.DISCUSSION: The difference in mode may be non-ignorable for many uses of the HRS cognitive measure. In particular, it may require reconsideration of some cutscore-based approaches to identify impairment.
View details for DOI 10.1093/geronb/gbad068
View details for PubMedID 37129872
-
Progress and Challenges in GxE Research on Depression.
The American journal of psychiatry
2023; 180 (2): 111-113
View details for DOI 10.1176/appi.ajp.20221039
View details for PubMedID 36722121
-
Application essays and the ritual production of merit in US selective admissions
POETICS
2022; 94
View details for DOI 10.1016/j.poetic.2022.101706
View details for Web of Science ID 000891714500001
-
The Effect of COVID on Oral Reading Fluency During the 2020-2021 Academic Year
AERA OPEN
2022; 8
View details for DOI 10.1177/23328584221120254
View details for Web of Science ID 000864714600001
-
Virtual Immersion into a Poorly-Managed Medical Crisis Worsens Subsequent Performance: A Randomized, Controlled Trial
CLINICAL SIMULATION IN NURSING
2022; 70: 47-55
View details for DOI 10.1016/j.ecns.2022.06.008
View details for Web of Science ID 000834629800001
-
Estimating effects of parents' cognitive and non-cognitive skills on offspring education using polygenic scores.
Nature communications
2022; 13 (1): 4801
Abstract
Understanding how parents' cognitive and non-cognitive skills influence offspring education is essential for educational, family and economic policy. We use genetics (GWAS-by-subtraction) to assess a latent, broad non-cognitive skills dimension. To index parental effects controlling for genetic transmission, we estimate indirect parental genetic effects of polygenic scores on childhood and adulthood educational outcomes, using siblings (N = 47,459), adoptees (N = 6407), and parent-offspring trios (N = 2534) in three UK and Dutch cohorts. We find that parental cognitive and non-cognitive skills affect offspring education through their environment: on average across cohorts and designs, indirect genetic effects explain 36-40% of population polygenic score associations. However, indirect genetic effects are lower for achievement in the Dutch cohort, and for the adoption design. We identify potential causes of higher sibling- and trio-based estimates: prenatal indirect genetic effects, population stratification, and assortative mating. Our phenotype-agnostic, genetically sensitive approach has established overall environmental effects of parents' skills, facilitating future mechanistic work.
View details for DOI 10.1038/s41467-022-32003-x
View details for PubMedID 35999215
-
Speed-Accuracy Trade-Off? Not So Fast: Marginal Changes in Speed Have Inconsistent Relationships With Accuracy in Real-World Settings
JOURNAL OF EDUCATIONAL AND BEHAVIORAL STATISTICS
2022
View details for DOI 10.3102/10769986221099906
View details for Web of Science ID 000811628000001
-
Social mobility and biological aging among older adults in the United States.
PNAS nexus
2022; 1 (2): pgac029
Abstract
Lower socioeconomic status is associated with faster biological aging, the gradual and progressive decline in system integrity that accumulates with advancing age. Efforts to promote upward social mobility may, therefore, extend healthy lifespan. However, recent studies suggest that upward mobility may also have biological costs related to the stresses of crossing social boundaries. We tested associations of life-course social mobility with biological aging using data from participants in the 2016 Health and Retirement Study (HRS) Venous Blood Study who provided blood-chemistry (n=9,255) and/or DNA methylation (DNAm) data (n=3,976). We quantified social mobility from childhood to later-life using data on childhood family characteristics, educational attainment, and wealth accumulation. We quantified biological aging using 3 DNAm "clocks" and 3 blood-chemistry algorithms. We observed substantial social mobility among study participants. Those who achieved upward mobility exhibited less-advanced and slower biological aging. Associations of upward mobility with less-advanced and slower aging were consistent for blood-chemistry and DNAm measures of biological aging, and were similar for men and women and for Black and White Americans (Pearson-r effect-sizes 0.2 for blood-chemistry measures and the DNAm GrimAge clock and DunedinPoAm pace-of-aging measures; effect-sizes were smaller for the DNAm PhenoAge clock). Analysis restricted to educational mobility suggested differential effects by racial identity; mediating links between educational mobility and healthy aging may be disrupted by structural racism. In contrast, mobility producing accumulation of wealth appeared to benefit White and Black Americans equally, suggesting economic intervention to reduce wealth inequality may have potential to heal disparities in healthy aging.
View details for DOI 10.1093/pnasnexus/pgac029
View details for PubMedID 35615471
-
Development and validation of a Portuguese version of Obstetric Quality of Recovery-10 (ObsQoR-10-Portuguese).
Anaesthesia, critical care & pain medicine
2022: 101085
Abstract
BACKGROUND: We aimed to develop and validate a Portuguese version of the Obstetric Quality of Recovery-10 (ObsQoR-10-Portuguese) patient-reported outcome measure and evaluate its psychometric properties.METHODS: After ethical approval, we recruited term pregnant women undergoing uncomplicated elective cesarean delivery in a single Brazilian institution. Women were invited to complete the translated ObsQoR-10-Portuguese and EuroQoL (EQ-5D) questionnaires (including a global health visual analog scale [GHVAS]) at 24hours (±6hours) following delivery, and a subset of women an hour later. We assessed validity and reliability of ObsQoR-10-Portuguese.RESULTS: One hundred thirteen and 29 enrolled women completed the surveys at 24h and 25h (100% response rate).VALIDITY: (i) Convergent validity: ObsQoR-10-Portuguese correlated moderately with EuroQoL score (r=-0.587) and GHVAS score (r=0.568) at 24h. (ii) Discriminant validity: ObsQoR-10 discriminated well between good versus poor recovery (GHVAS score ≥ 70 versus < 70; difference in mean scores 14.2; p<0.001). (iii) Hypothesis testing: 24-h ObsQoR-10-Portuguese scores correlated with gestational age (r=0.191; p=0.043). (iv) Cross-cultural validity: Differential item functioning analysis suggested bias in 2 items. Reliability: (i) Internal consistency was good (Cronbach's alpha=0.82 and inter-item correlation=0.31). (ii) Split-half reliability was very good (Spearman-Brown Prophesy Reliability Estimate=0.80). (iii) Test re-test reliability was excellent (intra-class correlation coefficient=0.87). (iv) Floor and ceiling effects: <5% women scored either 0 or 100 (lowest and highest scores, respectively).CONCLUSION: ObsQoR-10-Portuguese is valid and reliable, and should be considered for use in Portuguese-speaking women to assess their quality of inpatient recovery following cesarean delivery.
View details for DOI 10.1016/j.accpm.2022.101085
View details for PubMedID 35487408
-
Positive associations between cannabis and alcohol use polygenic risk scores and phenotypic opioid misuse among African-Americans.
PloS one
2022; 17 (4): e0266384
Abstract
This study examined whether polygenic risk scores (PRS) for lifetime cannabis and alcohol use were associated with misusing opioids, and whether sex differences existed in these relations in an urban, African-American sample.Data were drawn from three cohorts of participants (N = 1,103; 45% male) who were recruited in first grade as part of a series of elementary school-based, universal preventive intervention trials conducted in a Mid-Atlantic region of the U.S. In young adulthood, participants provided a DNA sample and reported on whether they had used heroin or misused prescription opioids in their lifetime. Three substance use PRS were computed based on prior GWAS: lifetime cannabis use from Pasman et al. (2018), heavy drinking indexed via maximum number of drinks from Gelernter et al. (2019), and alcohol consumption from Kranzler et al. (2019).Higher PRS for lifetime cannabis use, greater heavy drinking, and greater alcohol consumption were associated with heightened risk for misusing opioids among the whole sample. Significant sex by PRS interactions were also observed such that higher PRS for heavy drinking and alcohol consumption were associated with a greater likelihood of opioid misuse among males, but not females.Our findings further elucidate the genetic contributions to misusing opioids by showing that the genetics of cannabis and alcohol consumption are associated with lifetime opioid misuse among young adults, though replication of our findings is needed.
View details for DOI 10.1371/journal.pone.0266384
View details for PubMedID 35395044
-
Estimating heritability of height without zygosity information for twins under five years in low- and middle-income countries: An application of normal finite mixture distribution models.
SSM - population health
2022; 17: 101043
Abstract
Twin studies are widely used to estimate heritability of traits and typically rely on knowing the zygosity of twin pairs in order to determine variation attributable to genetics. Most twin studies are conducted in high resource settings. Large scale household survey data, such as the Demographic and Health Surveys, collect various biomarkers for children under five years old in low- and middle-income countries. These data include twins but no information on zygosity. We applied mixture models to obtain heritability estimates without knowing zygosity of twins, using 249 Demographic and Health Surveys from 79 low- and middle-income countries (14,524 twin pairs). We focused on height of children, adjusted for age and sex, but also provided estimates for other biomarkers available in the data. We estimated that the heritability of height in our sample was 46%.
View details for DOI 10.1016/j.ssmph.2022.101043
View details for PubMedID 35242993
-
Predictive Fit Metrics for Item Response Models
APPLIED PSYCHOLOGICAL MEASUREMENT
2022: 136-155
Abstract
The fit of an item response model is typically conceptualized as whether a given model could have generated the data. In this study, for an alternative view of fit, "predictive fit," based on the model's ability to predict new data is advocated. The authors define two prediction tasks: "missing responses prediction"-where the goal is to predict an in-sample person's response to an in-sample item-and "missing persons prediction"-where the goal is to predict an out-of-sample person's string of responses. Based on these prediction tasks, two predictive fit metrics are derived for item response models that assess how well an estimated item response model fits the data-generating model. These metrics are based on long-run out-of-sample predictive performance (i.e., if the data-generating model produced infinite amounts of data, what is the quality of a "model's predictions on average?"). Simulation studies are conducted to identify the prediction-maximizing model across a variety of conditions. For example, defining prediction in terms of missing responses, greater average person ability, and greater item discrimination are all associated with the 3PL model producing relatively worse predictions, and thus lead to greater minimum sample sizes for the 3PL model. In each simulation, the prediction-maximizing model to the model selected by Akaike's information criterion, Bayesian information criterion (BIC), and likelihood ratio tests are compared. It is found that performance of these methods depends on the prediction task of interest. In general, likelihood ratio tests often select overly flexible models, while BIC selects overly parsimonious models. The authors use Programme for International Student Assessment data to demonstrate how to use cross-validation to directly estimate the predictive fit metrics in practice. The implications for item response model selection in operational settings are discussed.
View details for DOI 10.1177/01466216211066603
View details for Web of Science ID 000759578900001
View details for PubMedID 35281339
View details for PubMedCentralID PMC8908407
-
Modeling Interaction and Dispersion Effects in the Analysis of Gene-by-Environment Interaction.
Behavior genetics
2021
Abstract
Genotype-by-environment interaction (GxE) studies probe heterogeneity in response to risk factors or interventions. Popular methods for estimation of GxE examine multiplicative interactions between individual genetic and environmental measures. However, risk factors and interventions may modulate the total variance of an epidemiological outcome that itself represents the aggregation of many other etiological components. We expand the traditional GxE model to directly model genetic and environmental moderation of the dispersion of the outcome. We derive a test statistic, [Formula: see text], for inferring whether an interaction identified between individual genetic and environmental measures represents a more general pattern of moderation of the total variance in the phenotype by either the genetic or the environmental measure. We validate our method via extensive simulation, and apply it to investigate genotype-by-birth year interactions for Body Mass Index (BMI) with polygenic scores in the Health and Retirement Study (N = 11,586) and individual genetic variants in the UK Biobank (N = 380,605). We find that changes in the penetrance of a genome-wide polygenic score for BMI across birth year are partly representative of a more general pattern of expanding BMI variation across generations. Three individual variants found to be more strongly associated with BMI among later born individuals, were also associated with the magnitude of variability in BMI itself within any given birth year, suggesting that they may confer general sensitivity of BMI to a range of unmeasured factors beyond those captured by birth year. We introduce an expanded GxE regression model that explicitly models genetic and environmental moderation of the dispersion of the outcome under study. This approach can determine whether GxE interactions identified are specific to the measured predictors or represent a more general pattern of moderation of the total variance in the outcome by the genetic and environmental measures.
View details for DOI 10.1007/s10519-021-10090-8
View details for PubMedID 34855050
-
The Effects of Demographic-Based Selection Bias on GWAS Results in the UK Biobank
SPRINGER. 2021: 748
View details for Web of Science ID 000709342700164
-
Education Data Science: Past, Present, Future
AERA OPEN
2021; 7
View details for DOI 10.1177/23328584211052055
View details for Web of Science ID 000710518100001
-
FoGS provides a public FAQ repository for social and behavioral genomic discoveries.
Nature genetics
2021; 53 (9): 1272-1274
View details for DOI 10.1038/s41588-021-00929-5
View details for PubMedID 34493865
-
Variation in Respondent Speed and its Implications: Evidence from an Adaptive Testing Scenario
JOURNAL OF EDUCATIONAL MEASUREMENT
2021
View details for DOI 10.1111/jedm.12291
View details for Web of Science ID 000664347600001
-
The Physiologic and Emotional Effects of 360-Degree Video Simulation on Head-Mounted Display Versus In-Person Simulation: A Noninferiority, Randomized Controlled Trial.
Simulation in healthcare : journal of the Society for Simulation in Healthcare
2021
Abstract
INTRODUCTION: A key simulation component is its capability to elicit physiological changes, improving recall. The primary aim was to determine whether parasympathetic responses to head-mounted display simulations (HMDs) were noninferior to in-person simulations. The secondary aims explored sympathetic and affective responses and learning effectiveness.METHODS: The authors conducted a noninferiority trial. Hospital providers who did not use chronotropic medications, have motion sickness, or have seizures were included. The authors randomized participants to in-person or HMD simulation. Biometric sensors collected respiratory sinus arrhythmia and skin conductance levels to measure parasympathetic and sympathetic states at baseline, during, and after the simulation. Affect was measured using a schedule. The authors measured 3-month recall of learning points and used split-plot analysis of variance and Mann-Whitney U tests to analyze.RESULTS: One hundred fifteen participants qualified, and the authors analyzed 56 in each group. Both groups experienced a significant change in mean respiratory sinus arrhythmia from baseline to during and from during to afterward. The difference of change between the groups from baseline to during was 0.134 (95% confidence interval = 0.142 to 0.410, P = 0.339). The difference of change from during the simulation to after was -0.060 (95% confidence interval = -0.337 to 0.217, P = 0.670). Noninferiority was not established for either period. Sympathetic arousal did not occur in either group. Noninferiority was not established for the changes in affect that were demonstrated. The mean scores of teaching effectiveness and achievement scores were not different.CONCLUSIONS: Although a parasympathetic and affective response to the video simulation on an HMD did occur, it was not discernibly noninferior to in-person in this study.
View details for DOI 10.1097/SIH.0000000000000587
View details for PubMedID 34120135
-
Associations of Loneliness and Social Isolation with Healthspan and Lifespan in the US Health and Retirement Study.
The journals of gerontology. Series A, Biological sciences and medical sciences
2021
Abstract
BACKGROUND: Loneliness and social isolation are emerging public health challenges for aging populations.METHODS: We followed N=11,302 US Health and Retirement Study (HRS) participants aged 50-95 from 2006-2014 to measure persistence of experiences of loneliness and exposure to social isolation. We tested associations of longitudinal loneliness and social isolation phenotypes with disability, morbidity, mortality, and biological aging through 2018.RESULTS: During follow-up, 18% of older adults met criteria for loneliness, with 6% meeting criteria at two or more follow-up assessments. For social isolation, these fractions were 21% and 8%. HRS participants who experienced loneliness and were exposed to social isolation were at increased risk for disease, disability, and mortality. Those experiencing persistent loneliness were at a 57% increased hazard of mortality compared to those who never experienced loneliness. For social isolation, the increase was 28%. Effect-sizes were somewhat larger for counts of prevalent activity limitations and somewhat smaller for counts of prevalent chronic diseases. Covariate adjustment for socioeconomic and psychological risks attenuated but did not fully explain associations. Older adults who experienced loneliness and were exposed to social isolation also exhibited physiological indications of advanced biological aging (Cohen's-d for persistent loneliness and social isolation=0.26 and 0.21, respectively). For loneliness, but not social isolation, persistence was associated with increased risk.CONCLUSION: Deficits in social connectedness prevalent in a national sample of US older adults were associated with morbidity, disability, and mortality and with more advanced biological aging. Bolstering social connectedness to interrupt experiences of loneliness may promote healthy aging.
View details for DOI 10.1093/gerona/glab128
View details for PubMedID 33963758
-
Customizing CAT administration of the PROMIS Misuse of Prescription Pain Medication Item Bank for patients with chronic pain.
Pain medicine (Malden, Mass.)
2021
Abstract
OBJECTIVE: The 22-item PROMIS-Rx Pain Medication Misuse item bank (Bank-22) imposes a high response burden. This study aimed to characterize the performance of the Bank-22 in a computer adaptive testing (CAT) setting based on varied stopping rules.METHODS: The 22 items were administered to 288 patients. We performed a CAT simulation using default stopping rules (CATPROMIS). In 5 other simulations, a "best health" response rule was added to decrease response burden. This rule stopped CAT administration when a participant selected "never" to a specified number of initial Bank-22 items (2-6 in this study, designated CATAlt2-Alt6). The Bank-22 and 7-item short form (SF-7) scores were compared to scores based on CATPROMIS, and the 5 CAT variations.RESULTS: Bank-22 scores correlated highly with the SF-7 and CATPROMIS, Alt5, Alt6 scores (rs=.87-.95) and moderately with CATAlt2- Alt4 scores (rs=.63-.74). In all CAT conditions, the greatest differences with Bank-22 scores were at the lower end of misuse T-scores. The smallest differences with Bank-22 and CATPROMIS scores were observed with CATAlt5 and CATAlt6. Compared to the SF-7, CATAlt5 and CATAlt6 reduced overall response burden by about 42%. Finally, the correlations between PROMIS-Rx Misuse and Anxiety T-scores remained relatively unchanged across the conditions (rs=.31-.43, ps < .001).CONCLUSIONS: Applying a stopping rule based on number of initial "best health" responses reduced response burden for respondents with lower levels of misuse. The tradeoff was less measurement precision for those individuals, which could be an acceptable tradeoff when the chief concern is in discriminating higher levels of misuse.
View details for DOI 10.1093/pm/pnab159
View details for PubMedID 33944948
-
Rapid online assessment of reading ability.
Scientific reports
2021; 11 (1): 6396
Abstract
An accurate model of the factors that contribute to individual differences in reading ability depends on data collection in large, diverse and representative samples of research participants. However, that is rarely feasible due to the constraints imposed by standardized measures of reading ability which require test administration by trained clinicians or researchers. Here we explore whether a simple, two-alternative forced choice, time limited lexical decision task (LDT), self-delivered through the web-browser, can serve as an accurate and reliable measure of reading ability. We found that performance on the LDT is highly correlated with scores on standardized measures of reading ability such as the Woodcock-Johnson Letter Word Identification test (r=0.91, disattenuated r=0.94). Importantly, the LDT reading ability measure is highly reliable (r=0.97). After optimizing the list of words and pseudowords based on item response theory, we found that a short experiment with 76 trials (2-3min) provides a reliable (r=0.95) measure of reading ability. Thus, the self-administered, Rapid Online Assessment of Reading ability (ROAR) developed here overcomes the constraints of resource-intensive, in-person reading assessment, and provides an efficient and automated tool for effective online research into the mechanisms of reading (dis)ability.
View details for DOI 10.1038/s41598-021-85907-x
View details for PubMedID 33737729
-
Young Children's Prosocial Behavior Protects Against Academic Risk in Neighborhoods With Low Socioeconomic Status.
Child development
2021
Abstract
Children raised in neighborhoods with low socioeconomic status (SES) are at risk for low academic achievement. Identifying factors that help children from disadvantaged neighborhoods thrive is critical for reducing inequalities. We investigated whether children's prosocial behavior buffers concurrent and subsequent academic risk in disadvantaged neighborhoods in Bradford, UK. Diverse children (N=1,175) were followed until age seven, with measurements taken at four times. We used governmental indices of neighborhood-level SES, teacher observations of prosocial behaviors, and direct assessments of academic achievement. Neighborhood SES was positively associated with academic achievement among children with low levels of prosocial behavior, but not among children with high levels of prosocial behavior. Prosocial behavior may mitigate academic risk across early childhood.
View details for DOI 10.1111/cdev.13549
View details for PubMedID 33594683
-
Genetics and Child Development: Recent Advances and Their Implications for Developmental Research
CHILD DEVELOPMENT PERSPECTIVES
2021
View details for DOI 10.1111/cdep.12400
View details for Web of Science ID 000611958300001
-
Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.
Nature genetics
2021; 53 (1): 35–44
Abstract
Little is known about the genetic architecture of traits affecting educational attainment other than cognitive ability. We used genomic structural equation modeling and prior genome-wide association studies (GWASs) of educational attainment (n = 1,131,881) and cognitive test performance (n = 257,841) to estimate SNP associations with educational attainment variation that is independent of cognitive ability. We identified 157 genome-wide-significant loci and a polygenic architecture accounting for 57% of genetic variance in educational attainment. Noncognitive genetics were enriched in the same brain tissues and cell types as cognitive performance, but showed different associations with gray-matter brain volumes. Noncognitive genetics were further distinguished by associations with personality traits, less risky behavior and increased risk for certain psychiatric disorders. For socioeconomic success and longevity, noncognitive and cognitive-performance genetics demonstrated associations of similar magnitude. By conducting a GWAS of a phenotype that was not directly measured, we offer a view of genetic architecture of noncognitive skills influencing educational success.
View details for DOI 10.1038/s41588-020-00754-2
View details for PubMedID 33414549
-
Innovative methods to analyse the impact of gender norms on adolescent health using global health survey data.
Social science & medicine (1982)
2021; 293: 114652
Abstract
Understanding how gender norms affect health is an important entry point into designing programs and policies to change norms and improve gender equality and health. However, it is rare for global health datasets to include questions on gender norms, especially questions that go beyond measuring gender-related attitudes, thus limiting gender analysis.We developed five case studies using health survey data from six countries to demonstrate approaches to defining and operationalising proxy measures and analytic approaches to investigating how gender norms can affect health. Key findings, strengths and limitations of our norms proxies and methodological choices are summarised.Case studies revealed links between gender norms and multiple adolescent health outcomes. Proxys for norms were derived from data on attitudes, beliefs, and behaviours, as well as differences between attitudes and behaviours. Data were cross-sectional, longitudinal, census- and social network-based. Analytic methods were diverse. We found that gender norms affect: 1) Intimate partner violence in Nigeria; 2) Unhealthy weight control behaviours in Brazil and South Africa; 3) HIV status in Zambia; 4) Health and social mobility in the US; and 5) Childbirth in Honduras.Researchers can use existing global health survey data to examine pathways through which gender norms affect health by generating proxies for gender norms. While direct measures of gender norms can greatly improve the understanding of how gender affects health, proxy measures for norms can be designed for the specific health-related outcome and normative context, for instance by either aggregating behaviours or attitudes or quantifying the difference (dissonance) between them. These norm proxies enable evaluations of the influence of gender norms on health and insights into possible reference groups and sanctions for non-compliers, thus informing programmes and policies to shape norms and improve health.
View details for DOI 10.1016/j.socscimed.2021.114652
View details for PubMedID 34915243
-
Assessing the Impact of a Test Question: Evidence from the "Underground Railroad" Controversy
EDUCATIONAL MEASUREMENT-ISSUES AND PRACTICE
2020
View details for DOI 10.1111/emip.12411
View details for Web of Science ID 000599977400001
-
Heteroscedastic regression modeling elucidates gene-by-environment interaction
SPRINGER. 2020: 451–52
View details for Web of Science ID 000581004100037
-
Genetic associations between non-cognitive skills and educational outcomes: The role of parental environment
SPRINGER. 2020: 446–47
View details for Web of Science ID 000581004100025
-
Interactions between Polygenic Scores and Environments: Methodological and Conceptual Challenges
SOCIOLOGICAL SCIENCE
2020; 7: 465–86
View details for DOI 10.15195/v7.a19
View details for Web of Science ID 000575889800001
-
Interactions between Polygenic Scores and Environments: Methodological and Conceptual Challenges.
Sociological science
2020; 7: 465-486
Abstract
Interest in the study of gene-environment interaction has recently grown due to the sudden availability of molecular genetic data-in particular, polygenic scores-in many long-running longitudinal studies. Identifying and estimating statistical interactions comes with several analytic and inferential challenges; these challenges are heightened when used to integrate observational genomic and social science data. We articulate some of these key challenges, provide new perspectives on the study of gene-environment interactions, and end by offering some practical guidance for conducting research in this area. Given the sudden availability of well-powered polygenic scores, we anticipate a substantial increase in research testing for interaction between such scores and environments. The issues we discuss, if not properly addressed, may impact the enduring scientific value of gene-environment interaction studies.
View details for DOI 10.15195/v7.a19
View details for PubMedID 36091972
View details for PubMedCentralID PMC9455807
-
A mutation associated with stress resistance in mice is associated with human grip strength and mortality.
Biodemography and social biology
2020; 65 (3): 245–56
Abstract
Hand gripstrength (GS) is a valid and reliable predictor of future morbidity and mortality and is considered a useful indicator of aging. In this paper, we use results from the genetic analysis in animal studies to evaluate associations for GS, frailty, and subsequent mortality among humans. Specifically, we use data from the Health and Retirement Survey (HRS) to investigate the association between three polymorphisms in a candidate frailty gene (Tiam1) and GS. Results suggest that the A allele in rs724561 significantly reduces GS among older adults in the US (b=-0.340; p <.006) and is significantly associated with self-reported weakness (b=0.221; p =.036). This same polymorphism was weakly associated (one-tailed) with an increased risk of mortality (b=1.091; p <.093) and adjustments for GS rendered this association statistically non-significant (b=1.048; p <.361). Overall, our results provide tentative evidence that the Tiam1 gene may be associated with frailty development, but we encourage further studies.
View details for DOI 10.1080/19485565.2020.1744425
View details for PubMedID 32727277
-
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Addiction biology
2020: e12880
Abstract
Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg ], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
View details for DOI 10.1111/adb.12880
View details for PubMedID 32064741
-
A large-scale genome-wide association study meta-analysis of cannabis use disorder.
The lancet. Psychiatry
2020
Abstract
Variation in liability to cannabis use disorder has a strong genetic component (estimated twin and family heritability about 50-70%) and is associated with negative outcomes, including increased risk of psychopathology. The aim of the study was to conduct a large genome-wide association study (GWAS) to identify novel genetic variants associated with cannabis use disorder.To conduct this GWAS meta-analysis of cannabis use disorder and identify associations with genetic loci, we used samples from the Psychiatric Genomics Consortium Substance Use Disorders working group, iPSYCH, and deCODE (20 916 case samples, 363 116 control samples in total), contrasting cannabis use disorder cases with controls. To examine the genetic overlap between cannabis use disorder and 22 traits of interest (chosen because of previously published phenotypic correlations [eg, psychiatric disorders] or hypothesised associations [eg, chronotype] with cannabis use disorder), we used linkage disequilibrium score regression to calculate genetic correlations.We identified two genome-wide significant loci: a novel chromosome 7 locus (FOXP2, lead single-nucleotide polymorphism [SNP] rs7783012; odds ratio [OR] 1·11, 95% CI 1·07-1·15, p=1·84 × 10-9) and the previously identified chromosome 8 locus (near CHRNA2 and EPHX2, lead SNP rs4732724; OR 0·89, 95% CI 0·86-0·93, p=6·46 × 10-9). Cannabis use disorder and cannabis use were genetically correlated (rg 0·50, p=1·50 × 10-21), but they showed significantly different genetic correlations with 12 of the 22 traits we tested, suggesting at least partially different genetic underpinnings of cannabis use and cannabis use disorder. Cannabis use disorder was positively genetically correlated with other psychopathology, including ADHD, major depression, and schizophrenia.These findings support the theory that cannabis use disorder has shared genetic liability with other psychopathology, and there is a distinction between genetic liability to cannabis use and cannabis use disorder.National Institute of Mental Health; National Institute on Alcohol Abuse and Alcoholism; National Institute on Drug Abuse; Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing; The European Commission, Horizon 2020; National Institute of Child Health and Human Development; Health Research Council of New Zealand; National Institute on Aging; Wellcome Trust Case Control Consortium; UK Research and Innovation Medical Research Council (UKRI MRC); The Brain & Behavior Research Foundation; National Institute on Deafness and Other Communication Disorders; Substance Abuse and Mental Health Services Administration (SAMHSA); National Institute of Biomedical Imaging and Bioengineering; National Health and Medical Research Council (NHMRC) Australia; Tobacco-Related Disease Research Program of the University of California; Families for Borderline Personality Disorder Research (Beth and Rob Elliott) 2018 NARSAD Young Investigator Grant; The National Child Health Research Foundation (Cure Kids); The Canterbury Medical Research Foundation; The New Zealand Lottery Grants Board; The University of Otago; The Carney Centre for Pharmacogenomics; The James Hume Bequest Fund; National Institutes of Health: Genes, Environment and Health Initiative; National Institutes of Health; National Cancer Institute; The William T Grant Foundation; Australian Research Council; The Virginia Tobacco Settlement Foundation; The VISN 1 and VISN 4 Mental Illness Research, Education, and Clinical Centers of the US Department of Veterans Affairs; The 5th Framework Programme (FP-5) GenomEUtwin Project; The Lundbeck Foundation; NIH-funded Shared Instrumentation Grant S10RR025141; Clinical Translational Sciences Award grants; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institute of General Medical Sciences.
View details for DOI 10.1016/S2215-0366(20)30339-4
View details for PubMedID 33096046
-
Genetic associations with mathematics tracking and persistence in secondary school.
NPJ science of learning
2020; 5 (1): 1
Abstract
Maximizing the flow of students through the science, technology, engineering, and math (STEM) pipeline is important to promoting human capital development and reducing economic inequality. A critical juncture in the STEM pipeline is the highly cumulative sequence of secondary school math courses. Students from disadvantaged schools are less likely to complete advanced math courses. Here, we conduct an analysis of how the math pipeline differs across schools using student polygenic scores, which are DNA-based indicators of propensity to succeed in education. We integrated genetic and official school transcript data from over 3000 European-ancestry students from U.S. high schools. We used polygenic scores as a molecular tracer to understand how the flow of students through the high school math pipeline differs in socioeconomically advantaged versus disadvantaged schools. Students with higher education polygenic scores were tracked to more advanced math already at the beginning of high school and persisted in math for more years. Analyses using genetics as a molecular tracer revealed that the dynamics of the math pipeline differed by school advantage. Compared to disadvantaged schools, advantaged schools buffered students with low polygenic scores from dropping out of math. Across all schools, even students with exceptional polygenic scores (top 2%) were unlikely to take the most advanced math classes, suggesting substantial room for improvement in the development of potential STEM talent. These results link new molecular genetic discoveries to a common target of educational-policy reforms.
View details for DOI 10.1038/s41539-020-0060-2
View details for PubMedID 33536441
-
Separating Measured Genetic and Environmental Effects: Evidence Linking Parental Genotype and Adopted Child Outcomes.
Behavior genetics
2020
Abstract
There has been widespread adoption of genome wide summary scores (polygenic scores) as tools for studying the importance of genetics and associated life course mechanisms across a range of demographic and socioeconomic outcomes. However, an often unacknowledged issue with these studies is that parental genetics impact both child environments and child genetics, leaving the effects of polygenic scores difficult to interpret. This paper uses multi-generational data containing polygenic scores for parents (n = 7193) and educational outcomes for adopted (n = 855) and biological (n = 20,939) children, many raised in the same families, which allows us to separate the influence of parental polygenic scores on children outcomes between environmental (adopted children) and environmental and genetic (biological children) effects. Our results complement recent work on "genetic nurture" by showing associations of parental polygenic scores with adopted children's schooling, providing additional evidence that polygenic scores combine genetic and environmental influences and that research designs are needed to separate these estimated impacts.
View details for DOI 10.1007/s10519-020-10000-4
View details for PubMedID 32350631
-
Genetic associations with mathematics tracking and persistence in secondary school.
NPJ science of learning
2020; 5: 1
Abstract
Maximizing the flow of students through the science, technology, engineering, and math (STEM) pipeline is important to promoting human capital development and reducing economic inequality. A critical juncture in the STEM pipeline is the highly cumulative sequence of secondary school math courses. Students from disadvantaged schools are less likely to complete advanced math courses. Here, we conduct an analysis of how the math pipeline differs across schools using student polygenic scores, which are DNA-based indicators of propensity to succeed in education. We integrated genetic and official school transcript data from over 3000 European-ancestry students from U.S. high schools. We used polygenic scores as a molecular tracer to understand how the flow of students through the high school math pipeline differs in socioeconomically advantaged versus disadvantaged schools. Students with higher education polygenic scores were tracked to more advanced math already at the beginning of high school and persisted in math for more years. Analyses using genetics as a molecular tracer revealed that the dynamics of the math pipeline differed by school advantage. Compared to disadvantaged schools, advantaged schools buffered students with low polygenic scores from dropping out of math. Across all schools, even students with exceptional polygenic scores (top 2%) were unlikely to take the most advanced math classes, suggesting substantial room for improvement in the development of potential STEM talent. These results link new molecular genetic discoveries to a common target of educational-policy reforms.
View details for DOI 10.1038/s41539-020-0060-2
View details for PubMedID 32047651
View details for PubMedCentralID PMC7002519
-
Using Machine Learning to Advance Early Warning Systems: Promise and Pitfalls
TEACHERS COLLEGE RECORD
2020; 122 (14)
View details for Web of Science ID 000623395900003
-
Not a family matter: The effects of religiosity on academic outcomes based on evidence from siblings.
Social science research
2020; 88-89: 102426
Abstract
Religiosity has been positively linked with multiple measures of academic success, but it is unclear whether the "effect" of religiosity on academic outcomes is causal or spurious. One source of heterogeneity that may contribute to a child's level of religiosity and his/her academic success is family background. This paper is the first to use sibling differences to estimate the associations between religiosity on short and long-term academic success. Our analysis yields two main results. First, more religious adolescents earned higher GPAs in high school, even after including family fixed effects. Second, because they earned higher GPAs in high school, more religious adolescents completed more years of education 14 years after their religiosity was measured. Our findings suggest that adolescents' religious commitments influence their schooling in both the short and long term and should be more actively included and theorized as important drivers of educational and economic stratification.
View details for DOI 10.1016/j.ssresearch.2020.102426
View details for PubMedID 32469740
-
Gender Norms and Weight Control Behaviors in U.S. Adolescents: A Prospective Cohort Study (1994-2002).
The Journal of adolescent health : official publication of the Society for Adolescent Medicine
2020; 66 (1S): S34–S41
Abstract
PURPOSE: The aim of this article was to determine the relationship between gender norms and weight control behaviors in U.S. adolescents.METHODS: We analyzed prospective cohort data from the National Longitudinal Study of Adolescent to Adult Health (N= 9,861), at baseline in 1994-1995 (ages 11-18years, Wave I), 1-year follow-up (ages 12-19years, Wave II), and 7-year follow-up (ages 18-26years, Wave III). The primary exposure variable was a measure of one's gender normativity based on the degree to which males and females behave in ways that are similar to the behaviors of their same-gender peers. The outcome variable was an individual's weight control attempts (trying to lose or gain weight) and behaviors (dieting, fasting/skipping meals, vomiting, or weight-loss pills/laxatives/diuretics to lose weight or ate different/more foods than usual or taking supplements to gain weight).RESULTS: In logistic regression analyses controlling for potential confounders, a higher baseline individual gender normativity score (higher femininity in females and higher masculinity in males) was associated with weight loss attempts (beta= .10; p= .01) and weight loss behaviors (beta= .18; p<.001) in girls but was associated with weight gain attempts (beta= .18; p < .001) and behaviors (beta= .16; p < .001) in boys at 1-year follow-up. Higher individual gender normativity score was protective of weight loss attempts (beta=-.15; p < .001) and weight loss behaviors (beta=-.17; p<.001) in males but not females at 7-year follow-up. Loess plots provided visualizations of significant relationships.CONCLUSIONS: Gender norms may reinforce a thinner body ideal for girls but a larger ideal for boys.
View details for DOI 10.1016/j.jadohealth.2019.08.020
View details for PubMedID 31866036
-
Genes, Gender Inequality, and Educational Attainment
AMERICAN SOCIOLOGICAL REVIEW
2019; 84 (6): 1069–98
View details for DOI 10.1177/0003122419886550
View details for Web of Science ID 000498070900004
-
Cohort Trends in the Gender Distribution of Household Tasks in the United States and the Implications for Understanding Disability
JOURNAL OF AGING AND HEALTH
2019; 31 (10): 1748–69
View details for DOI 10.1177/0898264318793469
View details for Web of Science ID 000496322200002
-
Sleep-wake disorders in Alzheimer's disease: further genetic analyses in relation to objective sleep measures.
International psychogeriatrics
2019: 1–7
Abstract
This paper presents updated analyses on the genetic associations of sleep disruption in individuals with Alzheimer's disease (AD). We published previously a study of the association between single nucleotide polymorphisms (SNPs) found in eight genes related to circadian rhythms and objective measures of sleep-wake disturbances in 124 individuals with AD. Here, we present new relevant analyses using polygenic risk scores (PRS) and variable number tandem repeats (VNTRs) enumerations. PRS were calculated using the genetic data from the original participants and relevant genome wide association studies (GWAS). VNTRs for the same circadian rhythm genes studied with SNPs were obtained from a separate cohort of participants using whole genome sequencing (WGS). Objectively (wrist actigraphy) determined wake after sleep onset (WASO) was used as a measure of sleep disruption. None of the PRS were associated with sleep disturbance. Computer analyses using VNTRseek software generated a total of 30 VNTRs for the circadian-related genes but none appear relevant to our objective sleep measure. In addition, of 71 neurotransmitter function-related genes, 29 genes had VNTRs that differed from the reference VNTR, but it was not clear if any of these might affect circadian function in AD patients. Although we have not found in either the current analyses or in our previous published analyses of SNPs any direct linkages between identified genetic factors and WASO, research in this area remains in its infancy.
View details for DOI 10.1017/S1041610219001777
View details for PubMedID 31739820
-
Genes related to education predict frailty among older adults in the United States
SPRINGER. 2019: 490
View details for Web of Science ID 000494050500018
-
Evaluation of the Preliminary Validity of Misuse of Prescription Pain Medication Items from the Patient-Reported Outcomes Measurement Information System (PROMIS)(R)
PAIN MEDICINE
2019; 20 (10): 1925–33
View details for DOI 10.1093/pm/pnz001
View details for Web of Science ID 000498052000007
-
Implications of gendered behaviour and contexts for social mobility in the USA: a nationally representative observational study
LANCET PLANETARY HEALTH
2019; 3 (10): E420–E428
View details for Web of Science ID 000525924400011
-
Implications of gendered behaviour and contexts for social mobility in the USA: a nationally representative observational study.
The Lancet. Planetary health
2019; 3 (10): e420–e428
Abstract
BACKGROUND: We constructed measures of an individual's gendered behaviour and their gendered environment to investigate the salience of gender norms during adolescence for social mobility during the next decade of life.METHODS: In this nationally representative observational study, we collected individual-level data from the National Longitudinal Study of Adolescent to Adult Health (Add Health), which enrolled a cohort of nationally representative school students aged 11-19 years from across the USA and followed them up for 14 years (ie, to age 25-33 years). We characterised gendered behaviour for adolescents in a performative sense via self-reports of behaviours and beliefs. We aggregated this individual-level measure to create a proxy measure of an individual's social context by taking averages for an individual's peers of the same sex and school year.FINDINGS: Between Jan 5, 1994, and Dec 26, 1995, Add Health collected data on a cohort of 20 745 students. 14 540 respondents were followed-up 14 years later between April 3, 2007, and Feb 1, 2009, of whom 7722 (53·1%) were female. More masculine male respondents were downwardly mobile; they were enrolled in school for fewer years and were more likely to have lower status jobs than their less masculine same-sex school peers. More masculine male respondents were also more likely to have jobs in occupational categories with larger proportions of males than their same-sex school peers. Gendered behaviour was not predictive of future educational and occupational attainment for female respondents. Male adolescents in school years with more masculine same-sex peers than male adolescents in other school years also tended to have lower educational and occupational attainment than their male peers. Educational and occupational attainment in early midlife for female respondents was not affected by their gendered environment.INTERPRETATION: Gender, when measured as a set of gender-distinct behaviours in adolescence, was associated with differential patterns of social mobility from adolescence to young adulthood. Moreover, variation in an individual's local gender norms has implications for subsequent socioeconomic attainment, especially for male adolescents. These findings have potential implications for observed health disparities.FUNDING: Bill & Melinda Gates Foundation.
View details for DOI 10.1016/S2542-5196(19)30191-3
View details for PubMedID 31625514
-
Genetics and the geography of health, behaviour and attainment
NATURE HUMAN BEHAVIOUR
2019; 3 (6): 576–86
View details for DOI 10.1038/s41562-019-0562-1
View details for Web of Science ID 000471237800014
-
Genetic risk, body mass index, and weight control behaviors: Unlocking the triad.
The International journal of eating disorders
2019
Abstract
BACKGROUND: The relationship between genetic risk for body mass index (BMI) and weight control behaviors remains unknown. The objectives of this study were to determine the association between genetic risk for BMI and weight control behaviors in young adults, and to examine actual measured BMI as a potential mediator variable.METHOD: We analyzed data from three data collection waves of the National Longitudinal Study of Adolescent to Adult Health. The BMI polygenic score (PGS) was based on published genome-wide association studies for BMI. BMI was collected at 11-18years and 18-26years. Weight control behaviors included self-reported: (a) weight loss behaviors (dieting, vomiting, fasting/skipping meals, diet pills, laxatives, or diuretic use to lose weight) and (b) weight gain behaviors (eating more or different foods than normal, taking supplements to gain weight).RESULTS: Among 4,397 participants, the BMI PGS was associated with higher odds of weight loss behaviors in females (OR 1.24, 95% CI 1.14-1.35) and males (OR 1.43, 95% CI 1.26-1.62), and this association was mediated by BMI (indirect effect 0.04, 95% CI 0.03-0.05 in females and 0.03, 95% CI 0.03-0.04 in males). The BMI PGS was associated with lower odds of weight gain behaviors in females and males, which was also mediated by actual BMI.CONCLUSIONS: The BMI PGS was associated with weight loss behaviors in both males and females, and this association was mediated by actual measured BMI. Clinical interventions to prevent high BMI, particularly for individuals with genetic risk, may also prevent subsequent development of potentially unhealthy weight loss behaviors.
View details for PubMedID 30994932
-
Genetics and the geography of health, behaviour and attainment.
Nature human behaviour
2019
Abstract
Young people's life chances can be predicted by characteristics of their neighbourhood1. Children growing up in disadvantaged neighbourhoods exhibit worse physical and mental health and suffer poorer educational and economic outcomes than children growing up in advantaged neighbourhoods. Increasing recognition that aspects of social inequalities tend, in fact, to be geographical inequalities2-5 is stimulating research and focusing policy interest on the role of place in shaping health, behaviour and social outcomes. Where neighbourhood effects are causal, neighbourhood-level interventions can be effective. Where neighbourhood effects reflect selection of families with different characteristics into different neighbourhoods, interventions should instead target families or individuals directly. To test how selection may affect different neighbourhood-linked problems, we linked neighbourhood data with genetic, health and social outcome data for >7,000 European-descent UK and US young people in the E-Risk and Add Health studies. We tested selection/concentration of genetic risks for obesity, schizophrenia, teen pregnancy and poor educational outcomes in high-risk neighbourhoods, including genetic analysis of neighbourhood mobility. Findings argue against genetic selection/concentration as an explanation for neighbourhood gradients in obesity and mental health problems. By contrast, modest genetic selection/concentration was evident for teen pregnancy and poor educational outcomes, suggesting that neighbourhood effects for these outcomes should be interpreted with care.
View details for PubMedID 30962612
-
New Evidence of Skin Color Bias and Health Outcomes Using Sibling Difference Models: A Research Note
DEMOGRAPHY
2019; 56 (2): 753–62
View details for DOI 10.1007/s13524-018-0756-6
View details for Web of Science ID 000463793700016
-
Evaluation of the Preliminary Validity of Misuse of Prescription Pain Medication Items from the Patient-Reported Outcomes Measurement Information System (PROMIS).
Pain medicine (Malden, Mass.)
2019
Abstract
OBJECTIVE: The National Institutes of Health's Patient-Reported Outcomes Measurement Information System (PROMIS) includes an item bank for measuring misuse of prescription pain medication (PROMIS-Rx Misuse). The bank was developed and its validity evaluated in samples of community-dwelling adults and patients in addiction treatment programs. The goal of the current study was to investigate the validity of the item bank among patients with mixed-etiology chronic pain conditions.METHOD: A consecutive sample of 288 patients who presented for initial medical evaluations at a tertiary pain clinic completed questionnaires using the open-source Collaborative Health Outcomes Information Registry. Participants were predominantly middle-aged (M [SD]=51.6 [15.5] years), female (62.2%), and white/non-Hispanic (51.7%). Validity was evaluated by estimating the association between PROMIS-Rx Misuse scores and scores on other measures and testing the ability of scores to distinguish among risk factor subgroups expected to have different levels of prescription pain medicine misuse (known groups analyses).RESULTS: Overall, score associations with other measures were as expected and scores effectively distinguished among patients with and without relevant risk factors.CONCLUSION: The study results supported the preliminary validity of PROMIS-Rx Misuse item bank scores for the assessment of prescription opioid misuse in patients visiting an outpatient pain clinic.
View details for PubMedID 30856659
-
Genetics and Education: Recent Developments in the Context of an Ugly History and an Uncertain Future
AERA OPEN
2019; 5 (1)
View details for DOI 10.1177/2332858418810516
View details for Web of Science ID 000509665500001
-
THE GENETIC RISK FOR BODY MASS INDEX AND WEIGHT LOSS BEHAVIORS
ELSEVIER SCIENCE INC. 2019: S53
View details for Web of Science ID 000455853700102
-
New Evidence of Skin Color Bias and Health Outcomes Using Sibling Difference Models: A Research Note.
Demography
2019
Abstract
In this research note, we use data from the National Longitudinal Study of Adolescent to Adult Health (Add Health) to determine whether darker skin tone predicts hypertension among siblings using a family fixed-effects analytic strategy. We find that even after we account for common family background and home environment, body mass index, age, sex, and outdoor activity, darker skin color significantly predicts hypertension incidence among siblings. In a supplementary analysis using newly released genetic data from Add Health, we find no evidence that our results are biased by genetic pleiotropy, whereby differences in alleles among siblings relate to coloration and directly to cardiovascular health simultaneously. These results add to the extant evidence on color biases that are distinct from those based on race alone and that will likely only heighten in importance in an increasingly multiracial environment as categorization becomes more complex.
View details for PubMedID 30627966
-
Curve Fitting from Probabilistic Emissions and Applications to Dynamic Item Response Theory
IEEE. 2019: 1336–41
View details for DOI 10.1109/ICDM.2019.00170
View details for Web of Science ID 000555729900161
-
PERFORMANCE OF POLYGENIC SCORES ACROSS ANCESTRALLY DIVERSE POPULATIONS: SCIENTIFIC AND ETHICAL CONSIDERATIONS
ELSEVIER SCIENCE BV. 2019: S833–S834
View details for DOI 10.1016/j.euroneuro.2017.08.094
View details for Web of Science ID 000462156400223
-
Gender norms and health: insights from global survey data.
Lancet (London, England)
2019
Abstract
Despite global commitments to achieving gender equality and improving health and wellbeing for all, quantitative data and methods to precisely estimate the effect of gender norms on health inequities are underdeveloped. Nonetheless, existing global, national, and subnational data provide some key opportunities for testing associations between gender norms and health. Using innovative approaches to analysing proxies for gender norms, we generated evidence that gender norms impact the health of women and men across life stages, health sectors, and world regions. Six case studies showed that: (1) gender norms are complex and can intersect with other social factors to impact health over the life course; (2) early gender-normative influences by parents and peers can have multiple and differing health consequences for girls and boys; (3) non-conformity with, and transgression of, gender norms can be harmful to health, particularly when they trigger negative sanctions; and (4) the impact of gender norms on health can be context-specific, demanding care when designing effective gender-transformative health policies and programmes. Limitations of survey-based data are described that resulted in missed opportunities for investigating certain populations and domains. Recommendations for optimising and advancing research on the health impacts of gender norms are made.
View details for DOI 10.1016/S0140-6736(19)30765-2
View details for PubMedID 31155273
-
Adolescent gender norms and adult health outcomes in the USA: a prospective cohort study.
The Lancet. Child & adolescent health
2019
Abstract
Previous research has documented differences in health behaviours between men and women, with differential risks and health outcomes between the sexes. Although some sex-specific differences in health outcomes are caused by biological factors, many others are socially driven through gender norms. We therefore aimed to assess whether gender expression as an adolescent, determined by the degree to which an individual's behvaiours were typical of their gender, were associated with health behaviours and outcomes in adulthood.In this prospective cohort study, we used data from the National Longitudinal Study of Adolescent to Adult Health, a nationally representative sample of US adolescents from whom data were collected during adolescence (ages 11-18 years) and adulthood (ages 24-32 years). We created a measure of gender expression that was based on the degree to which male and female adolescents and adults behave in stereotypically masculine (for men) or feminine (for women) ways relative to their same-gender peers. Adolescents were assessed for baseline sociodemographic characteristics and gender expression, and these participants were later assessed, during adulthood, for their gender expression and health behaviours and outcomes, which included depression, self-rated health, drug and alcohol use, cardiovascular risk factors, experience of sexual violence, diet, and obesity. These data were collected via surveys, except for body-mass index, cholesterol, and blood pressure, which were collected as biomarkers.Between April and December, 1995, self-reported data were collected from 10 480 female and 10 263 male adolescents; similar data were subsequently collected in several waves in this cohort, with a final collection between January, 2008, and February, 2009, when participants were aged 24-32 years. We used data from this final wave and from baseline, and our study represents a secondary analysis of these data. Of these participants, complete follow-up data from 6721 (80%) adult women and 5885 (80%) adult men were available. Gender expression was stable for men and women from adolescence to adulthood. High masculinity (vs low masculinity) in adolescent and adult men was positively associated with smoking in the past month, use of marijuana and recreational drugs, prescription drug misuse (adult gender expression only), and consumption of fast food and soda (adolescent gender expression only) in the past week. However, higher masculine gender expression in adult men was negatively associated with diagnosed depression and high cholesterol in adulthood, and masculine gender expression in adolescent and adult men was negatively associated with high blood pressure in adults. High femininity (vs low femininity) in adolescent or adult women was positively associated with high cholesterol and blood pressure (both adult gender expression only), depression, migraines (adult gender expression only), and physical limitations (ie, health problems that limited their daily activities). However, higher femininity in adolescence was negatively associated with self-rated good health in adulthood. Although feminine gender expression in adolescents was predictive of adult recreational and prescription drug and marijuana use and experience of sexual violence, feminine gender expression in adulthood was negatively associated with adult substance use and experience of sexual violence, suggesting that expressions of femininity typical of adolescents impart risks that expression of femininity as an adult does not. Individuals who are highly masculine or feminine seem to be at greatest risk of adverse health outcomes and behaviours.We found compelling evidence that adolescent gender expression is correlated with health in adulthood independently of gender expression as an adult. Although more research is needed to identify causal mechanisms, our results suggest that those designing health behaviour interventions should carefully consider integrating gender transformative components into interventions.Eunice Kennedy Shriver National Institute of Child Health and Human Development, Gender Equality, Integrated Delivery, HIV, Nutrition, Family Planning, and Water Sanitation and Hygiene Program Strategy Teams (Bill and Melinda Gates Foundation).
View details for DOI 10.1016/S2352-4642(19)30160-9
View details for PubMedID 31155319
-
Pathways Between a Polygenic Score for Educational Attainment and Higher Educational Attainment in an African American Sample.
Behavior genetics
2019
Abstract
We investigated the extent to which performance on standardized achievement tests, executive function (EF), and aggression in childhood and adolescence accounted for the relationship between a polygenic score for educational attainment (EA PGS) and years of education in a community sample of African Americans. Participants (N = 402; 49.9% female) were initially recruited for an elementary school-based prevention trial in a Mid-Atlantic city and followed into adulthood. In first and twelfth grade, participants completed math and reading standardized tests and teachers reported on participants' aggression and EF, specifically impulsivity and concentration problems. At age 20, participants reported on their years of education and post-secondary degrees attained and their genotype was assayed from blood or buccal swabs. An EA PGS was created using results from a large-scale GWAS on EA. A higher EA PGS was associated with higher education indirectly via adolescent achievement. No other mediating mechanisms were significant. Adolescent academic achievement is thus one mechanism through which polygenic propensity for EA influences post-secondary education among urban, African American youth.
View details for DOI 10.1007/s10519-019-09982-7
View details for PubMedID 31760550
-
Genes related to education predict frailty among older adults in the United States.
The journals of gerontology. Series B, Psychological sciences and social sciences
2019
Abstract
This article expands on research that links education and frailty among older adults by considering the role of genes associated with education.Data come from a sample of 7,064 non-Hispanic, white adults participating in the 2004-2012 waves of the Health and Retirement Study. Frailty was measured with two indices: (1) The Frailty Index which corresponds to a deficit accumulation model; and (2) The Paulson-Lichtenberg Frailty Index which corresponds to the biological syndrome/ phenotype model. Genes associated with education were quantified using an additive polygenic score. Associations between the polygenic score and frailty indices were tested using a series of multilevel models, controlling for multiple observations for participants across waves.Results showed a strong and negative association between genes for education and frailty symptoms in later life. This association exists above and beyond years of completed education and we demonstrate that this association becomes weaker as older adults approach their 80s.The results contribute to the education-health literature by highlighting new and important pathways through which education might be linked to successful aging.
View details for DOI 10.1093/geronb/gbz092
View details for PubMedID 31362310
-
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders.
Nature neuroscience
2018; 21 (12): 1656–69
Abstract
Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest genome-wide association study to date of DSM-IV-diagnosed AD. Genome-wide data on 14,904 individuals with AD and 37,944 controls from 28 case-control and family-based studies were meta-analyzed, stratified by genetic ancestry (European, n=46,568; African, n=6,280). Independent, genome-wide significant effects of different ADH1B variants were identified in European (rs1229984; P=9.8*10-13) and African ancestries (rs2066702; P=2.2*10-9). Significant genetic correlations were observed with 17 phenotypes, including schizophrenia, attention deficit-hyperactivity disorder, depression, and use of cigarettes and cannabis. The genetic underpinnings of AD only partially overlap with those for alcohol consumption, underscoring the genetic distinction between pathological and nonpathological drinking behaviors.
View details for PubMedID 30482948
-
Analysis of Polygenic Score Usage and Performance Across Diverse Human Populations
NATURE PUBLISHING GROUP. 2018: S320
View details for Web of Science ID 000509546600590
-
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
NATURE NEUROSCIENCE
2018; 21 (12): 1656-+
View details for DOI 10.1038/s41593-018-0275-1
View details for Web of Science ID 000451324700005
-
Schools as Moderators of Genetic Associations with Life Course Attainments: Evidence from the WLS and Add Heath
SOCIOLOGICAL SCIENCE
2018; 5: 513–40
View details for DOI 10.15195/v5.a22
View details for Web of Science ID 000440607600001
-
Education, Smoking, and Cohort Change: Forwarding a Multidimensional Theory of the Environmental Moderation of Genetic Effects
AMERICAN SOCIOLOGICAL REVIEW
2018; 83 (4): 802–32
View details for DOI 10.1177/0003122418785368
View details for Web of Science ID 000439348300007
-
Education, Smoking, and Cohort Change: Forwarding a Multidimensional Theory of the Environmental Moderation of Genetic Effects.
American sociological review
2018; 83 (4): 802-832
Abstract
We introduce a genetic correlation by environment interaction model [(rG)xE] which allows for social environmental moderation of the genetic relationship between two traits. To empirically demonstrate the significance of the (rG)xE perspective, we use genome wide information from respondents of the Health and Retirement Study (HRS; n = 8,181; birth years 1920-1959) and the National Longitudinal Study of Adolescent to Adult Health (Add Health; n = 4,347; birth years 1974-1983) to examine whether the genetic correlation (rG) between education and smoking has increased over historical time. Genetic correlation estimates (rGHRS = -0.357; rGAdd Health = -0.729) support this hypothesis. Using polygenic scores for educational attainment, we show that this is not due to latent indicators of intellectual capacity, and we highlight the importance of education itself as an explanation of the increasing genetic correlation. Analyses based on contextual variation the milieus of the Add Health respondents corroborate key elements of the birth cohort analyses. We argue that the increasing overlap with respect to genes associated with educational attainment and smoking is a fundamentally social process involving complex process of selection based on observable behaviors that may be linked to genotype.
View details for DOI 10.1177/0003122418785368
View details for PubMedID 31534265
View details for PubMedCentralID PMC6750804
-
Schools as Moderators of Genetic Associations with Life Course Attainments: Evidence from the WLS and Add Health.
Sociological science
2018; 5: 513-540
Abstract
Genetic variants identified in genome-wide association studies of educational attainment have been linked with a range of positive life course development outcomes. However, it remains unclear whether school environments may moderate these genetic associations. We analyze data from two biosocial surveys that contain both genetic data and follow students from secondary school through mid- to late life. We test if the magnitudes of the associations with educational and occupational attainments varied across the secondary schools that participants attended or with characteristics of those schools. Although we find little evidence that genetic associations with educational and occupational attainment varied across schools or with school characteristics, genetic associations with any postsecondary education and college completion were moderated by school-level socioeconomic status. Along similar lines, we observe substantial between-school variation in the average level of educational attainment students achieved for a fixed genotype. These findings emphasize the importance of social context in the interpretation of genetic associations. Specifically, our results suggest that though existing measures of individual genetic endowment have a linear relationship with years of schooling that is relatively consistent across school environments, school context is crucial in connecting an individual's genotype to his or her likelihood of crossing meaningful educational thresholds.
View details for DOI 10.15195/v5.a22
View details for PubMedID 30613760
View details for PubMedCentralID PMC6314676
-
Wide educational disparities in young adult cardiovascular health
SSM-POPULATION HEALTH
2018; 5: 249–56
Abstract
Widening educational differences in overall health and recent stagnation in cardiovascular disease mortality rates highlight the critical need to describe and understand educational disparities in cardiovascular health (CVH) among U.S. young adults. We use two data sets representative of the U.S. population to examine educational disparities in CVH among young adults (24-34) coming of age in the 21st century: the National Health and Nutrition Examination Survey (2005-2010; N= 689) and the National Longitudinal Study of Adolescent to Adult Health (2007-2008; N=11,200). We employ descriptive statistics and regression analysis. The results show that fewer than one in four young adults had good CVH (at least 5 out of 7 ideal cardiovascular indicators). Young adults who had not attained a college degree demonstrate particularly disadvantaged CVH compared with their college-educated peers. Such educational disparities persist after accounting for a range of confounders, including individuals' genetic propensity to develop coronary artery disease. The results indicate that the CVH of today's young adults is troubling and especially compromised for individuals with lower levels of educational attainment. These results generate substantial concern about the future CVH of the US population, particularly for young adults with a low level of education.
View details for PubMedID 30094320
-
Father Absence and Accelerated Reproductive Development in Non-Hispanic White Women in the United States
DEMOGRAPHY
2018; 55 (4): 1245–67
Abstract
Girls who experience father absence in childhood also experience accelerated reproductive development in comparison with peers with present fathers. One hypothesis advanced to explain this empirical pattern is genetic confounding, wherein gene-environment correlation (rGE) causes a spurious relationship between father absence and reproductive timing. We test this hypothesis by constructing polygenic scores for age at menarche and first birth using recently available genome-wide association study results and molecular genetic data on a sample of non-Hispanic white females from the National Longitudinal Study of Adolescent to Adult Health. We find that young women's accelerated menarche polygenic scores are unrelated to their exposure to father absence. In contrast, polygenic scores for earlier age at first birth tend to be higher in young women raised in homes with absent fathers. Nevertheless, father absence and the polygenic scores independently and additively predict reproductive timing. We find no evidence in support of the rGE hypothesis for accelerated menarche and only limited evidence in support of the rGE hypothesis for earlier age at first birth.
View details for PubMedID 29978338
-
A sibling method for identifying vQTLs
PLOS ONE
2018; 13 (4): e0194541
Abstract
The propensity of a trait to vary within a population may have evolutionary, ecological, or clinical significance. In the present study we deploy sibling models to offer a novel and unbiased way to ascertain loci associated with the extent to which phenotypes vary (variance-controlling quantitative trait loci, or vQTLs). Previous methods for vQTL-mapping either exclude genetically related individuals or treat genetic relatedness among individuals as a complicating factor addressed by adjusting estimates for non-independence in phenotypes. The present method uses genetic relatedness as a tool to obtain unbiased estimates of variance effects rather than as a nuisance. The family-based approach, which utilizes random variation between siblings in minor allele counts at a locus, also allows controls for parental genotype, mean effects, and non-linear (dominance) effects that may spuriously appear to generate variation. Simulations show that the approach performs equally well as two existing methods (squared Z-score and DGLM) in controlling type I error rates when there is no unobserved confounding, and performs significantly better than these methods in the presence of small degrees of confounding. Using height and BMI as empirical applications, we investigate SNPs that alter within-family variation in height and BMI, as well as pathways that appear to be enriched. One significant SNP for BMI variability, in the MAST4 gene, replicated. Pathway analysis revealed one gene set, encoding members of several signaling pathways related to gap junction function, which appears significantly enriched for associations with within-family height variation in both datasets (while not enriched in analysis of mean levels). We recommend approximating laboratory random assignment of genotype using family data and more careful attention to the possible conflation of mean and variance effects.
View details for PubMedID 29617452
-
Genetic Risks for Chronic Conditions: Implications for Long-term Wellbeing
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
2018; 73 (4): 477–83
Abstract
Relationships between genetic risks for chronic diseases and long-run wellbeing are largely unexplored. We examined the associations between genetic predispositions to several chronic conditions and long-term functional health and socioeconomic status (SES).We used data on a nationally representative sample of 9,317 adults aged 65 years or older from the 1992 to 2012 Health and Retirement Survey (HRS) in the US. Survey data were linked to genetic data on nearly 2 million single-nucleotide polymorphisms (SNPs). We measured individual-level genetic predispositions for coronary-artery disease, type 2 diabetes (T2D), obesity, rheumatoid arthritis (RA), Alzheimer's disease, and major depressive disorder (MDD) by polygenic risk scores (PRS) derived from genome-wide association studies (GWAS). The outcomes were self-rated health, depressive symptoms, cognitive ability, activities of everyday life, educational attainment, and wealth. We employed regression analyses for the outcomes including all polygenic scores and adjusting for gender, birth period, and genetic ancestry.The polygenic scores had important associations with functional health and SES. An increase in genetic risk for all conditions except T2D was significantly (p < .01) associated with reduced functional health and socioeconomic outcomes. The magnitudes of functional health declines were meaningful and in many cases equivalent in magnitude to several years of aging. These associations were robust to several sensitivity checks for ancestry and adjustment for parental educational attainment and age at death or the last interview if alive.Stronger genetic predispositions for leading chronic conditions are related to worse long-run health and SES outcomes, likely reflecting the adverse effects of the onset of these conditions on one's wellbeing.
View details for PubMedID 28958056
View details for PubMedCentralID PMC5861924
-
Geographic Clustering of Polygenic Scores at Different Stages of the Life Course.
The Russell Sage Foundation journal of the social sciences : RSF
2018; 4 (4): 137–49
Abstract
We interrogate state-level clustering of polygenic scores at different points in the life course and variation in the association of mean polygenic scores in a respondent's state of birth with corresponding phenotypes. The polygenic scores for height and smoking show the most state-level clustering (2 to 4 percent) with relatively little clustering observed for the other scores. However, even the small amounts of observed clustering are potentially meaningful. The state-mean polygenic score for educational attainment is strongly associated with an individual's educational attainment net of that person's polygenic score. The ecological clustering of polygenic scores may denote a new environmental factor in gene-environment research. We conclude by discussing possible mechanisms that underlie this association and the implications of our findings for social and genetic research.
View details for PubMedID 30740524
-
Genetic Predisposition to Obesity and Medicare Expenditures
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
2018; 73 (1): 66–72
Abstract
The relationship between obesity and health expenditures is not well understood. We examined the relationship between genetic predisposition to obesity measured by a polygenic risk score for body mass index (BMI) and Medicare expenditures.Biennial interview data from the Health and Retirement Survey for a nationally representative sample of older adults enrolled in fee-for-service Medicare were obtained from 1991 through 2010 and linked to Medicare claims for the same period and to Genome-Wide Association Study (GWAS) data. The study included 6,628 Medicare beneficiaries who provided 68,627 complete person-year observations during the study period. Outcomes were total and service-specific Medicare expenditures and indicators for expenditures exceeding the 75th and 90th percentiles. The BMI polygenic risk score was derived from GWAS data. Regression models were used to examine how the BMI polygenic risk score was related to health expenditures adjusting for demographic factors and GWAS-derived ancestry.Greater genetic predisposition to obesity was associated with higher Medicare expenditures. Specifically, a 1 SD increase in the BMI polygenic risk score was associated with a $805 (p < .001) increase in annual Medicare expenditures per person in 2010 dollars (~15% increase), a $370 (p < .001) increase in inpatient expenses, and a $246 (p < .001) increase in outpatient services. A 1 SD increase in the polygenic risk score was also related to increased likelihood of expenditures exceeding the 75th percentile by 18% (95% CI: 10%-28%) and the 90th percentile by 27% (95% CI: 15%-40%).Greater genetic predisposition to obesity is associated with higher Medicare expenditures.
View details for PubMedID 29240910
View details for PubMedCentralID PMC5861952
-
CONCEPTUALIZING SCHOOL BELONGINGNESS IN NATIVE YOUTH: FACTOR ANALYSIS OF THE PSYCHOLOGICAL SENSE OF SCHOOL MEMBERSHIP SCALE
AMERICAN INDIAN AND ALASKA NATIVE MENTAL HEALTH RESEARCH
2018; 25 (3): 26–51
Abstract
The Psychological Sense of School Membership (PSSM) scale is widely used to measure school belongingness among adolescents. However, previous studies identify inconsistencies in factor structures across different populations. The factor structure of the PSSM has yet to be examined with American Indian/Alaska Native (AI/AN) youth, a population of keen interest given reports of their educational and health disparities, and the potential of belongingness as a protective factor against risk behaviors. Thus, this study examined the factor structure of the PSSM in two samples of AI adolescents (N = 349). The two main aims of this study were to 1) determine if a comparable factor structure exists between the two AI groups and 2) examine the factor structure of the PSSM for use in AI/AN populations. Randomization analysis was used to test research aim one, and exploratory factor analysis was used to test research aim two. Analyses revealed that comparable factor structures existed based on responses from the two AI groups. Analyses also identified two factors: school identification/peer support and connection with teachers. Moreover, negatively worded statements were found to be unreliable and were removed from the final scale, reducing the PSSM to 13 items. Findings from this study will assist researchers and clinicians with assessing sense of school belongingness in AI/AN adolescents and with appropriately interpreting aspects of belongingness for this population.
View details for Web of Science ID 000447634800002
View details for PubMedID 30320875
-
Cohort Trends in the Gender Distribution of Household Tasks in the United States and the Implications for Understanding Disability.
Journal of aging and health
2018: 898264318793469
Abstract
Measures of disability depend on health and social roles in a given environment. Yet, social roles can change over time as they have by gender. We document how engagement in Instrumental Activities of Daily Living (IADLs) is shifting by gender and birth cohort among older adults, and the challenges these shifts can create for population-level estimates of disability.We used the Health and Retirement Study ( N = 25,047) and multinomial logistic regression models with an interaction term between gender and birth cohort to predict limitation and nonperformance relative to no difficulty conducting IADLs.Nonperformance of IADLs have significantly decreased among younger cohorts. Women in younger cohorts were more likely to use a map, whereas men in younger cohorts were more likely to prepare meals and shop.Failing to account for gender and cohort changes in IADL, performance may lead to systematic bias in estimates of population-level disability.
View details for PubMedID 30141717
-
Analysis of genetic similarity among friends and schoolmates in the National Longitudinal Study of Adolescent to Adult Health (Add Health)
SPRINGER. 2017: 676
View details for Web of Science ID 000415813600113
-
The Implications of Reduced Testing for Teacher Accountability
AERA OPEN
2017; 3 (2)
View details for DOI 10.1177/2332858417704411
View details for Web of Science ID 000509661300007
-
The social genome: Current findings and implications for the study of human genetics
PLOS GENETICS
2017; 13 (3): e1006615
View details for PubMedID 28301508
-
Measuring Student Learning in Technical Programs: A Case Study From Colombia
AERA OPEN
2017; 3 (1)
View details for DOI 10.1177/2332858417692997
View details for Web of Science ID 000509661100014
-
The Genetics of Success: How Single-Nucleotide Polymorphisms Associated With Educational Attainment Relate to Life-Course Development.
Psychological science
2016; 27 (7): 957-972
Abstract
A previous genome-wide association study (GWAS) of more than 100,000 individuals identified molecular-genetic predictors of educational attainment. We undertook in-depth life-course investigation of the polygenic score derived from this GWAS using the four-decade Dunedin Study (N = 918). There were five main findings. First, polygenic scores predicted adult economic outcomes even after accounting for educational attainments. Second, genes and environments were correlated: Children with higher polygenic scores were born into better-off homes. Third, children's polygenic scores predicted their adult outcomes even when analyses accounted for their social-class origins; social-mobility analysis showed that children with higher polygenic scores were more upwardly mobile than children with lower scores. Fourth, polygenic scores predicted behavior across the life course, from early acquisition of speech and reading skills through geographic mobility and mate choice and on to financial planning for retirement. Fifth, polygenic-score associations were mediated by psychological characteristics, including intelligence, self-control, and interpersonal skill. Effect sizes were small. Factors connecting DNA sequence with life outcomes may provide targets for interventions to promote population-wide positive development.
View details for DOI 10.1177/0956797616643070
View details for PubMedID 27251486
View details for PubMedCentralID PMC4946990
-
Assortative mating and differential fertility by phenotype and genotype across the 20th century
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2016; 113 (24): 6647-6652
Abstract
This study asks two related questions about the shifting landscape of marriage and reproduction in US society over the course of the last century with respect to a range of health and behavioral phenotypes and their associated genetic architecture: (i) Has assortment on measured genetic factors influencing reproductive and social fitness traits changed over the course of the 20th century? (ii) Has the genetic covariance between fitness (as measured by total fertility) and other traits changed over time? The answers to these questions inform our understanding of how the genetic landscape of American society has changed over the past century and have implications for population trends. We show that husbands and wives carry similar loadings for genetic factors related to education and height. However, the magnitude of this similarity is modest and has been fairly consistent over the course of the 20th century. This consistency is particularly notable in the case of education, for which phenotypic similarity among spouses has increased in recent years. Likewise, changing patterns of the number of children ever born by phenotype are not matched by shifts in genotype-fertility relationships over time. Taken together, these trends provide no evidence that social sorting is becoming increasingly genetic in nature or that dysgenic dynamics have accelerated.
View details for DOI 10.1073/pnas.1523592113
View details for Web of Science ID 000377948800037
View details for PubMedID 27247411
View details for PubMedCentralID PMC4914190
-
The Geographic Distribution of Genetic Risk as Compared to Social Risk for Chronic Diseases in the United States
BIODEMOGRAPHY AND SOCIAL BIOLOGY
2016; 62 (1): 126-142
Abstract
There is an association between chronic disease and geography, and there is evidence that the environment plays a critical role in this relationship. Yet at the same time, there is known to be substantial geographic variation by ancestry across the United States. Resulting geographic genetic variation-that is, the extent to which single nucleotide polymorphisms (SNPs) related to chronic disease vary spatially-could thus drive some part of the association between geography and disease. We describe the variation in chronic disease genetic risk by state of birth by taking risk SNPs from genome-wide association study meta-analyses for coronary artery disease, diabetes, and ischemic stroke and creating polygenic risk scores. We compare the amount of variability across state of birth in these polygenic scores to the variability in parental education, own education, earnings, and wealth. Our primary finding is that the polygenic risk scores are only weakly differentially distributed across U.S. states. The magnitude of the differences in geographic distribution is very small in comparison to the distribution of social and economic factors and thus is not likely sufficient to have a meaningful effect on geographic disease differences by U.S. state.
View details for DOI 10.1080/19485565.2016.1141353
View details for Web of Science ID 000373629600008
View details for PubMedID 27050037
-
Genome-Wide Estimates of Heritability for Social Demographic Outcomes
BIODEMOGRAPHY AND SOCIAL BIOLOGY
2016; 62 (1): 1-18
Abstract
An increasing number of studies that are widely used in the demographic research community have collected genome-wide data from their respondents. It is therefore important that demographers have a proper understanding of some of the methodological tools needed to analyze such data. This article details the underlying methodology behind one of the most common techniques for analyzing genome-wide data, genome-wide complex trait analysis (GCTA). GCTA models provide heritability estimates for health, health behaviors, or indicators of attainment using data from unrelated persons. Our goal was to describe this model, highlight the utility of the model for biodemographic research, and demonstrate the performance of this approach under modifications to the underlying assumptions. The first set of modifications involved changing the nature of the genetic data used to compute genetic similarities between individuals (the genetic relationship matrix). We then explored the sensitivity of the model to heteroscedastic errors. In general, GCTA estimates are found to be robust to the modifications proposed here, but we also highlight potential limitations of GCTA estimates.
View details for DOI 10.1080/19485565.2015.1068106
View details for Web of Science ID 000373629600001
View details for PubMedID 27050030
-
Cohort Effects in the Genetic Influence on Smoking
BEHAVIOR GENETICS
2016; 46 (1): 31-42
Abstract
We examine the hypothesis that the heritability of smoking has varied over the course of recent history as a function of associated changes in the composition of the smoking and non-smoking populations. Classical twin-based heritability analysis has suggested that genetic basis of smoking has increased as the information about the harms of tobacco has become more prevalent-particularly after the issuance of the 1964 Surgeon General's Report. In the present paper we deploy alternative methods to test this claim. We use data from the Health and Retirement Study to estimate cohort differences in the genetic influence on smoking using both genomic-relatedness-matrix restricted maximum likelihood and a modified DeFries-Fulker approach. We perform a similar exercise deploying a polygenic score for smoking using results generated by the Tobacco and Genetics consortium. The results support earlier claims that the genetic influence in smoking behavior has increased over time. Emphasizing historical periods and birth cohorts as environmental factors has benefits over existing GxE research. Our results provide additional support for the idea that anti-smoking policies of the 1980s may not be as effective because of the increasingly important role of genotype as a determinant of smoking status.
View details for DOI 10.1007/s10519-015-9731-9
View details for Web of Science ID 000368722300004
View details for PubMedCentralID PMC4720550
-
Cohort Effects in the Genetic Influence on Smoking.
Behavior genetics
2016; 46 (1): 31-42
Abstract
We examine the hypothesis that the heritability of smoking has varied over the course of recent history as a function of associated changes in the composition of the smoking and non-smoking populations. Classical twin-based heritability analysis has suggested that genetic basis of smoking has increased as the information about the harms of tobacco has become more prevalent-particularly after the issuance of the 1964 Surgeon General's Report. In the present paper we deploy alternative methods to test this claim. We use data from the Health and Retirement Study to estimate cohort differences in the genetic influence on smoking using both genomic-relatedness-matrix restricted maximum likelihood and a modified DeFries-Fulker approach. We perform a similar exercise deploying a polygenic score for smoking using results generated by the Tobacco and Genetics consortium. The results support earlier claims that the genetic influence in smoking behavior has increased over time. Emphasizing historical periods and birth cohorts as environmental factors has benefits over existing GxE research. Our results provide additional support for the idea that anti-smoking policies of the 1980s may not be as effective because of the increasingly important role of genotype as a determinant of smoking status.
View details for DOI 10.1007/s10519-015-9731-9
View details for PubMedID 26223473
View details for PubMedCentralID PMC4720550
-
The Bell Curve Revisited: Testing Controversial Hypotheses with Molecular Genetic Data.
Sociological science
2016; 3: 520–39
Abstract
In 1994, the publication of Herrnstein's and Murray's The Bell Curve resulted in a social science maelstrom of responses. In the present study, we argue that Herrnstein's and Murray's assertions were made prematurely, on their own terms, given the lack of data available to test the role of genotype in the dynamics of achievement and attainment in U.S. society. Today, however, the scientific community has access to at least one dataset that is nationally representative and has genome-wide molecular markers. We deploy those data from the Health and Retirement Study in order to test the core series of propositions offered by Herrnstein and Murray in 1994. First, we ask whether the effect of genotype is increasing in predictive power across birth cohorts in the middle twentieth century. Second, we ask whether assortative mating on relevant genotypes is increasing across the same time period. Finally, we ask whether educational genotypes are increasingly predictive of fertility (number ever born [NEB]) in tandem with the rising (negative) association of educational outcomes and NEB. The answers to these questions are mostly no; while molecular genetic markers can predict educational attainment, we find little evidence for the proposition that we are becoming increasingly genetically stratified.
View details for PubMedID 29130056
View details for PubMedCentralID PMC5679002
-
Changing Polygenic Penetrance on Phenotypes in the 20(th) Century Among Adults in the US Population.
Scientific reports
2016; 6: 30348-?
Abstract
This study evaluates changes in genetic penetrance-defined as the association between an additive polygenic score and its associated phenotype-across birth cohorts. Situating our analysis within recent historical trends in the U.S., we show that, while height and BMI show increasing genotypic penetrance over the course of 20(th) Century, education and heart disease show declining genotypic effects. Meanwhile, we find genotypic penetrance to be historically stable with respect to depression. Our findings help inform our understanding of how the genetic and environmental landscape of American society has changed over the past century, and have implications for research which models gene-environment (GxE) interactions, as well as polygenic score calculations in consortia studies that include multiple birth cohorts.
View details for DOI 10.1038/srep30348
View details for PubMedID 27456657
View details for PubMedCentralID PMC4960614
-
On the practices and challenges of measuring higher education value added: the case of Colombia
ASSESSMENT & EVALUATION IN HIGHER EDUCATION
2016; 41 (5): 695-720
View details for DOI 10.1080/02602938.2016.1168772
View details for Web of Science ID 000377038800004
-
Breastfeeding is associated with waist-to-height ratio in young adults
BMC PUBLIC HEALTH
2015; 15
Abstract
The current study investigated the association between breastfeeding and adult weight distribution using an emerging indicator of weight distribution, the waist-to-height ratio (WHtR).The study sample consisted of two subsamples of individuals that were part of the National Longitudinal Study of Adolescent Health. One sample (n = 1,179) consisted of individuals from the sibling pair data. A second sample (n = 4,648) consisted of individuals that were not part of the paired data. Regression models were constructed to establish if there was a relationship between breastfeeding and two measures of weight distribution: WHtR and body mass index (BMI). Controls for parental socioeconomic status, maternal smoking, race, sex, age, birth weight, maternal BMI, genetic ancestry, and a genetic risk score (GRS) for obesity were included. In addition, a behavioral risk score (BRS) was constructed to control for other residual confounding factors.A significant, inverse relationship between breastfeeding and adult WHtR persisted in models constructed from the sibling pair sample (P = 0.002) and unrelated sample (P < 0.0001). This association remained significant with the inclusion of ancestry principal components, GRS, and a measure of maternal obesity.The moderate association between breastfeeding and weight distribution persists into adulthood while controlling for potential confounders. This paper also provides evidence that the WHtR may be a superior outcome measure to BMI in studies investigating breastfeeding and obesity.
View details for DOI 10.1186/s12889-015-2611-7
View details for PubMedID 26700003
View details for PubMedCentralID PMC4688938
-
Polygenic Influence on Educational Attainment: New evidence from The National Longitudinal Study of Adolescent to Adult Health.
AERA open
2015; 1 (3): 1-13
Abstract
Recent studies have begun to uncover the genetic architecture of educational attainment. We build on this work using genome-wide data from siblings in the National Longitudinal Study of Adolescent to Adult Health (Add Health). We measure the genetic predisposition of siblings to educational attainment using polygenic scores. We then test how polygenic scores are related to social environments and educational outcomes. In Add Health, genetic predisposition to educational attainment is patterned across the social environment. Participants with higher polygenic scores were more likely to grow up in socially advantaged families. Even so, the previously published genetic associations appear to be causal. Among pairs of siblings, the sibling with the higher polygenic score typically went on to complete more years of schooling as compared to their lower-scored co-sibling. We found subtle differences between sibling fixed effect estimates of the genetic effect versus those based on unrelated individuals.
View details for DOI 10.1177/2332858415599972
View details for PubMedID 28164148
View details for PubMedCentralID PMC5291340
-
Prevention, Use of Health Services, and Genes: Implications of Genetics for Policy Formation
JOURNAL OF POLICY ANALYSIS AND MANAGEMENT
2015; 34 (3): 519-U228
Abstract
We evaluate the hypothesis that genetic factors influence the use of health services and prevention behaviors in a national sample of adult twins in the United States. The analysis compares the correlation of these outcomes between identical twins, who share all their genes, to the correlation between nonidentical twins, who share, on average, only one-half of their genes. Because the environmental similarities of twins are assumed to be the same for identical and nonidentical twin pairs, researchers can partition the variance in behavioral outcomes that are due to genetic and environmental factors. Using established methods in this field, we find evidence of significant genetic influences on preferences toward prevention, overall prevention effort, routine checkups, and prescription drug use. Use of curative services does not appear to be influenced by genes. Our findings offer several implications for policymakers and researchers and suggest that genetics could be informative for health services and policy research.
View details for DOI 10.1002/pam.21835
View details for Web of Science ID 000356005100005
View details for PubMedID 26106669
-
What can genes tell us about the relationship between education and health?
SOCIAL SCIENCE & MEDICINE
2015; 127: 171-180
Abstract
We use genome wide data from respondents of the Health and Retirement Study (HRS) to evaluate the possibility that common genetic influences are associated with education and three health outcomes: depression, self-rated health, and body mass index. We use a total of 1.7 million single nucleotide polymorphisms obtained from the Illumina HumanOmni2.5-4v1 chip from 4233 non-Hispanic white respondents to characterize genetic similarities among unrelated persons in the HRS. We then used the Genome Wide Complex Trait Analysis (GCTA) toolkit, to estimate univariate and bivariate heritability. We provide evidence that education (h(2) = 0.33), BMI (h(2) = 0.43), depression (h(2) = 0.19), and self-rated health (h(2) = 0.18) are all moderately heritable phenotypes. We also provide evidence that some of the correlation between depression and education as well as self-rated health and education is due to common genetic factors associated with one or both traits. We find no evidence that the correlation between education and BMI is influenced by common genetic factors.
View details for DOI 10.1016/j.socscimed.2014.08.001
View details for Web of Science ID 000350074800019
View details for PubMedID 25113566
-
The National Longitudinal Study of Adolescent to Adult Health (Add Health) Sibling Pairs Genome-Wide Data
BEHAVIOR GENETICS
2015; 45 (1): 12-23
Abstract
Here we provide a detailed description of the genome-wide information available on the National Longitudinal Study of Adolescent to Adult Health (Add Health) sibling pair subsample (Harris et al. in Twin Res Hum Genet 16:391-398, 2013). A total of 2,020 samples were genotyped (including duplicates) arising from 1946 Add Health individuals from the sibling pairs subsample. After various steps for quality control (QC) and quality assurance (QA), we have high quality genome-wide data available on 1,888 individuals. In this report, we first highlight the QC and QA steps that were taken to prune the data of poorly performing samples and genetic markers. We further estimate the pairwise biological relationships using genome-wide data and compare those estimates to the assumed relationships in Add Health. Additionally, using genome-wide data from known regional reference populations from Europe, West Africa, North and South America, Japan and China, we estimate the relative genetic ancestry of the respondents. Finally, rather than conducting a traditional cross-sectional genome-wide association study (GWAS) of body mass index (BMI), we opted to utilize the extensive publicly available genome-wide information to conduct a weighted GWAS of longitudinal BMI while accounting for both family and ethnic variation.
View details for DOI 10.1007/s10519-014-9692-4
View details for Web of Science ID 000348279200002
View details for PubMedID 25378290
-
Replicability and Robustness of Genome-Wide-Association Studies for Behavioral Traits
PSYCHOLOGICAL SCIENCE
2014; 25 (11): 1975-1986
Abstract
A recent genome-wide-association study of educational attainment identified three single-nucleotide polymorphisms (SNPs) whose associations, despite their small effect sizes (each R (2) ≈ 0.02%), reached genome-wide significance (p < 5 × 10(-8)) in a large discovery sample and were replicated in an independent sample (p < .05). The study also reported associations between educational attainment and indices of SNPs called "polygenic scores." In three studies, we evaluated the robustness of these findings. Study 1 showed that the associations with all three SNPs were replicated in another large (N = 34,428) independent sample. We also found that the scores remained predictive (R (2) ≈ 2%) in regressions with stringent controls for stratification (Study 2) and in new within-family analyses (Study 3). Our results show that large and therefore well-powered genome-wide-association studies can identify replicable genetic associations with behavioral traits. The small effect sizes of individual SNPs are likely to be a major contributing factor explaining the striking contrast between our results and the disappointing replication record of most candidate-gene studies.
View details for DOI 10.1177/0956797614545132
View details for Web of Science ID 000344874900001
View details for PubMedID 25287667
-
Norms as Group-Level Constructs: Investigating School-Level Teen Pregnancy Norms and Behaviors
SOCIAL FORCES
2014; 93 (1): 241-267
View details for DOI 10.1093/sf/sou063
View details for Web of Science ID 000342988400039
-
Testing the key assumption of heritability estimates based on genome-wide genetic relatedness
JOURNAL OF HUMAN GENETICS
2014; 59 (6): 342-345
Abstract
Comparing genetic and phenotypic similarity among unrelated individuals seems a promising way to quantify the genetic component of traits while avoiding the problematic assumptions plaguing twin- and other kin-based estimates of heritability. One approach uses a Genetic Relatedness Estimation through Maximum Likelihood (GREML) model for individuals who are related at less than 0.025 to predict their phenotypic similarity by their genetic similarity. Here we test the key underlying assumption of this approach: that genetic relatedness is orthogonal to environmental similarity. Using data from the Health and Retirement Study (and two other surveys), we show two unrelated individuals may be more likely to have been reared in a similar environment (urban versus nonurban setting) if they are genetically similar. This effect is not eliminated by controls for population structure. However, when we include this environmental confound in GREML models, heritabilities do not change substantially and thus potential bias in estimates of most biological phenotypes is probably minimal.
View details for DOI 10.1038/jhg.2014.14
View details for Web of Science ID 000338186000009
View details for PubMedID 24599117
-
Understanding multiple levels of norms about teen pregnancy and their relationships to teens' sexual behaviors
ADVANCES IN LIFE COURSE RESEARCH
2014; 20: 1-15
View details for DOI 10.1016/j.alcr.2013.12.004
View details for Web of Science ID 000336354300001
-
Is the Gene-Environment Interaction Paradigm Relevant to Genome-Wide Studies? The Case of Education and Body Mass Index
DEMOGRAPHY
2014; 51 (1): 119-139
Abstract
This study uses data from the Framingham Heart Study to examine the relevance of the gene-environment interaction paradigm for genome-wide association studies (GWAS). We use completed college education as our environmental measure and estimate the interactive effect of genotype and education on body mass index (BMI) using 260,402 single-nucleotide polymorphisms (SNPs). Our results highlight the sensitivity of parameter estimates obtained from GWAS models and the difficulty of framing genome-wide results using the existing gene-environment interaction typology. We argue that SNP-environment interactions across the human genome are not likely to provide consistent evidence regarding genetic influences on health that differ by environment. Nevertheless, genome-wide data contain rich information about individual respondents, and we demonstrate the utility of this type of data. We highlight the fact that GWAS is just one use of genome-wide data, and we encourage demographers to develop methods that incorporate this vast amount of information from respondents into their analyses.
View details for DOI 10.1007/s13524-013-0259-4
View details for Web of Science ID 000330990200007
View details for PubMedID 24281739
-
The Gains From Vertical Scaling
JOURNAL OF EDUCATIONAL AND BEHAVIORAL STATISTICS
2013; 38 (6): 551-576
View details for DOI 10.3102/1076998613508317
View details for Web of Science ID 000326778300001
-
Gene-environment interactions related to body mass: School policies and social context as environmental moderators
JOURNAL OF THEORETICAL POLITICS
2012; 24 (3): 370-388
View details for DOI 10.1177/0951629812437751
View details for Web of Science ID 000305352200004
-
Ethnicity, Body Mass, and Genome-Wide Data
BIODEMOGRAPHY AND SOCIAL BIOLOGY
2010; 56 (2): 123-136
Abstract
This article combines social and genetic epidemiology to examine the influence of self-reported ethnicity on body mass index (BMI) among a sample of adolescents and young adults. We use genetic information from more than 5,000 single nucleotide polymorphisms in combination with principal components analysis to characterize population ancestry of individuals in this study. We show that non-Hispanic white and Mexican-American respondents differ significantly with respect to BMI and differ on the first principal component from the genetic data. This first component is positively associated with BMI and accounts for roughly 3% of the genetic variance in our sample. However, after controlling for this genetic measure, the observed ethnic differences in BMI remain large and statistically significant. This study demonstrates a parsimonious method to adjust for genetic differences among individual respondents that may contribute to observed differences in outcomes. In this case, adjusting for genetic background has no bearing on the influence of self-identified ethnicity.
View details for DOI 10.1080/19485565.2010.524589
View details for Web of Science ID 000288381100002
View details for PubMedID 21387985
-
Genetic nature or genetic nurture? Introducing social genetic parameters to quantify bias in polygenic score analyses.
Biodemography and social biology
; 64 (3-4): 187–215
Abstract
Results from a genome-wide association study (GWAS) can be used to generate a polygenic score (PGS), an individual-level measure summarizing identified genetic influence on a trait dispersed across the genome. For complex, behavioral traits, the association between an individual's PGS and their phenotype may contain bias (from geographic, ancestral, and/or socioeconomic confounding) alongside the causal effect of the individual's genes. We formalize the introduction of a different source of bias in regression models using PGSs: the effects of parental genes on offspring outcomes, known as genetic nurture. GWAS do not discriminate between the various pathways through which genes become associated with outcomes, meaning existing PGSs capture both direct genetic effects and genetic nurture effects. We construct a theoretical model for genetic effects and show that the presence of genetic nurture biases PGS coefficients from both naïve OLS (between-family) and family fixed effects (within-family) regressions. This bias is in opposite directions; while naïve OLS estimates are biased away from zero, family fixed effects estimates are biased toward zero. We quantify this bias using two novel parameters: (1) the genetic correlation between the direct and nurture effects and (2) the ratio of the SNP heritabilities for the direct and nurture effects.
View details for DOI 10.1080/19485565.2019.1681257
View details for PubMedID 31852332