Ben Domingue is an assistant professor in the Graduate School of Education at Stanford University. He is interested in how student outcomes are leveraged to inform our understanding of student learning, teacher performance, and the efficacy of other programs. He has a particular interest in the technical issues that make it challenging to draw simple inferences from such student outcomes. While not analyzing item response data, he may be found thinking about the implications for social science of the sudden increase in our capacity to measure human DNA and the promise and pitfalls associated with how this new data may change our understanding of human behavior.
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 - Present)
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
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)
PhD, University of Colorado Boulder, Education (2012)
MA, University of Texas at Austin, Mathematics (2006)
BS, University of Texas at Austin, Mathematics (2001)
Brain and Learning Sciences
Current Research and Scholarly Interests
Ben Domingue is an assistant professor in the Graduate School of Education at Stanford University and a faculty fellow at Stanford's Center for Population Health Sciences. I am interested in how item responses collected via test or survey are leveraged to inform our understanding of human behavior (typically in the context of students or patients). I have a particular interest in the technical issues that make it challenging to draw simple inferences from such item responses. My work on student test scores has been done using data from both the US and abroad. While not analyzing item response data, I also work on projects pertaining to the implications for social science of the sudden increase in our capacity to measure human DNA and the promise and pitfalls associated with how this new data may change our understanding of human behavior.
- 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)
- Independent Studies (4)
- Prior Year Courses
Doctoral Dissertation Reader (AC)
Rosa Chavez, Sara Dozier, Anna Popova
Doctoral Dissertation Advisor (AC)
Lief Esbenshade, David Lang, Ben Stenhaug, Ajay Tripathi
Ishita Ahmed, Thomas Caruso, Catie Connolly, Radhika Kapoor, Saurabh Khanna, Crystal Moore, Ben Stenhaug, Lily Steyer
The Earliest Origins of Genetic Nurture: The Prenatal Environment Mediates the Association Between Maternal Genetics and Child Development.
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
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
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
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
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
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
2014; 9 (7)
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
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
2014; 79 (1): 1-19
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
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
Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.
2021; 53 (1): 35–44
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
- Assessing the Impact of a Test Question: Evidence from the "Underground Railroad" Controversy EDUCATIONAL MEASUREMENT-ISSUES AND PRACTICE 2020
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
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
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.
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
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
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
Genetic associations with mathematics tracking and persistence in secondary school.
NPJ science of learning
2020; 5: 1
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
A large-scale genome-wide association study meta-analysis of cannabis use disorder.
The lancet. Psychiatry
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
Separating Measured Genetic and Environmental Effects: Evidence Linking Parental Genotype and Adopted Child Outcomes.
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
Not a family matter: The effects of religiosity on academic outcomes based on evidence from siblings.
Social science research
2020; 88-89: 102426
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
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
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
- Genes, Gender Inequality, and Educational Attainment AMERICAN SOCIOLOGICAL REVIEW 2019; 84 (6): 1069–98
- 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
Sleep-wake disorders in Alzheimer's disease: further genetic analyses in relation to objective sleep measures.
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
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
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
Genetic risk, body mass index, and weight control behaviors: Unlocking the triad.
The International journal of eating disorders
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
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
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.)
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)
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.
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
Genes related to education predict frailty among older adults in the United States.
The journals of gerontology. Series B, Psychological sciences and social sciences
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
- Curve Fitting from Probabilistic Emissions and Applications to Dynamic Item Response Theory IEEE. 2019: 1336–41
- PERFORMANCE OF POLYGENIC SCORES ACROSS ANCESTRALLY DIVERSE POPULATIONS: SCIENTIFIC AND ETHICAL CONSIDERATIONS ELSEVIER SCIENCE BV. 2019: S833–S834
Adolescent gender norms and adult health outcomes in the USA: a prospective cohort study.
The Lancet. Child & adolescent health
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.
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
Gender norms and health: insights from global survey data.
Lancet (London, England)
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
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders.
2018; 21 (12): 1656–69
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
- Schools as Moderators of Genetic Associations with Life Course Attainments: Evidence from the WLS and Add Heath SOCIOLOGICAL SCIENCE 2018; 5: 513–40
Father Absence and Accelerated Reproductive Development in Non-Hispanic White Women in the United States
2018; 55 (4): 1245–67
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
- Education, Smoking, and Cohort Change: Forwarding a Multidimensional Theory of the Environmental Moderation of Genetic Effects AMERICAN SOCIOLOGICAL REVIEW 2018; 83 (4): 802–32
Wide educational disparities in young adult cardiovascular health
2018; 5: 249–56
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
A sibling method for identifying vQTLs
2018; 13 (4): e0194541
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
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
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
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
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
Education, Smoking, and Cohort Change: Forwarding a Multidimensional Theory of the Environmental Moderation of Genetic Effects.
American sociological review
2018; 83 (4): 802–32
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
Cohort Trends in the Gender Distribution of Household Tasks in the United States and the Implications for Understanding Disability.
Journal of aging and health
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
Schools as Moderators of Genetic Associations with Life Course Attainments: Evidence from the WLS and Add Health.
2018; 5: 513–40
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 PubMedID 30613760
View details for PubMedCentralID PMC6314676
The social genome: Current findings and implications for the study of human genetics
2017; 13 (3): e1006615
View details for PubMedID 28301508
The Genetics of Success: How Single-Nucleotide Polymorphisms Associated With Educational Attainment Relate to Life-Course Development.
2016; 27 (7): 957-972
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
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
Genome-Wide Estimates of Heritability for Social Demographic Outcomes
BIODEMOGRAPHY AND SOCIAL BIOLOGY
2016; 62 (1): 1-18
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
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
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
- Cohort Effects in the Genetic Influence on Smoking BEHAVIOR GENETICS 2016; 46 (1): 31-42
Changing Polygenic Penetrance on Phenotypes in the 20(th) Century Among Adults in the US Population.
2016; 6: 30348-?
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
Cohort Effects in the Genetic Influence on Smoking.
2016; 46 (1): 31–42
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 PubMedID 26223473
View details for PubMedCentralID PMC4720550
The Bell Curve Revisited: Testing Controversial Hypotheses with Molecular Genetic Data.
2016; 3: 520–39
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
- Breastfeeding is associated with waist-to-height ratio in young adults BMC PUBLIC HEALTH 2015; 15
Polygenic Influence on Educational Attainment: New evidence from The National Longitudinal Study of Adolescent to Adult Health.
2015; 1 (3): 1-13
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
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
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
2015; 45 (1): 12-23
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
2014; 25 (11): 1975-1986
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
Testing the key assumption of heritability estimates based on genome-wide genetic relatedness
JOURNAL OF HUMAN GENETICS
2014; 59 (6): 342-345
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
Is the Gene-Environment Interaction Paradigm Relevant to Genome-Wide Studies? The Case of Education and Body Mass Index
2014; 51 (1): 119-139
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
- Gene-environment interactions related to body mass: School policies and social context as environmental moderators JOURNAL OF THEORETICAL POLITICS 2012; 24 (3): 370-388
Ethnicity, Body Mass, and Genome-Wide Data
BIODEMOGRAPHY AND SOCIAL BIOLOGY
2010; 56 (2): 123-136
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