Dr. Jacquelyn Crane is a Clinical Assistant Professor in the Pediatric Hematology Oncology division at Lucile Packard Children’s Hospital, Stanford University School of Medicine. She received her undergraduate degree from Dartmouth College. She then conducted laboratory-based genetics research for two years in the Pauls lab at Massachusetts General Hospital. She received her medical degree from Tufts University School of Medicine and completed her pediatrics residency and pediatric hematology/oncology fellowship training at University of California Los Angeles. As a pediatric hematology & oncology fellow, she engaged in computational analysis of osteosarcoma transcriptomic data in the Graeber Lab and completed a medical education fellowship certificate program. Her primary clinical and research interests include sarcomas, Wilms tumor, and other solid tumors, cancer genomics, clinical trials and medical education. She is the associate program director of the pediatric hematology-oncology fellowship.

Clinical Focus

  • Solid Tumors
  • Sarcomas
  • Wilms Tumor
  • Pediatric Hematology-Oncology

Academic Appointments

Administrative Appointments

  • Associate Program Director, Pediatric Hematology-Oncology Fellowship (2021 - Present)

Honors & Awards

  • Awardee, Medical Educators Institute, American Society of Hematology (2019)
  • Alice Litman Moss Award - outstanding clinical care, scholarship & professionalism during residency, University of California Los Angeles Pediatric Residency Program (2017)

Boards, Advisory Committees, Professional Organizations

  • Member, Children's Oncology Group (COG) (2017 - Present)
  • Member, American Society of Pediatric Hematology/Oncology (ASPHO) (2018 - Present)
  • Member, American Society of Hematology (ASH) (2019 - Present)
  • Member, Connective Tissue Oncology Society (CTOS) (2020 - Present)
  • Member, American Society of Clinical Oncology (ASCO) (2022 - Present)

Professional Education

  • Board Certification: American Board of Pediatrics, Pediatric Hematology-Oncology (2021)
  • Fellowship: UCLA Pediatric Hematology Oncology Fellowship (2020) CA United States of America
  • Board Certification: American Board of Pediatrics, Pediatrics (2017)
  • Residency: UCLA Pediatric Residency (2017) CA
  • Medical Education: Tufts University School of Medicine (2014) MA
  • BA, Dartmouth College, Psychology (2008)

Graduate and Fellowship Programs

  • Pediatric Hem/Onc (Fellowship Program)

All Publications

  • Children's Oncology Group's 2023 blueprint for research: Soft tissue sarcomas. Pediatric blood & cancer Oberoi, S., Crane, J. N., Haduong, J. H., Rudzinski, E. R., Wolden, S. L., Dasgupta, R., Linardic, C. M., Weiss, A. R., Venkatramani, R., Children's Oncology Group Soft Tissue Sarcoma Committee 2023: e30556


    In the United States, approximately 850-900 children and adolescents each year are diagnosed with soft tissue sarcomas (STS). STS are divided into rhabdomyosarcoma (RMS) and non-rhabdomyosarcoma STS (NRSTS). RMS and NRSTS are risk stratified into low-, intermediate-, and high-risk categories, with 5-year survival rates of approximately 90%, 50%-70%, and 20%, respectively. Recent key achievements from the Children's Oncology Group (COG) STS Committee include the identification of new molecular prognostic factors for RMS, development and validation of a novel risk stratification system for NRSTS, successful completion of a collaborative NRSTS clinical trial with adult oncology consortia, and collaborative development of the INternational Soft Tissue SaRcoma ConsorTium (INSTRuCT). Current COG trials for RMS are prospectively evaluating a new risk stratification system that incorporates molecular findings, de-intensification of therapy for a very low-risk subgroup, and augmented therapy approaches for intermediate- and high-risk RMS. Trials for NRSTS exploring novel targets and local control modalities are in development.

    View details for DOI 10.1002/pbc.30556

    View details for PubMedID 37430436

  • Fibroblast Activation Protein Expression in Sarcomas. Sarcoma Crane, J. N., Graham, D. S., Mona, C. E., Nelson, S. D., Samiei, A., Dawson, D. W., Dry, S. M., Masri, M. G., Crompton, J. G., Benz, M. R., Czernin, J., Eilber, F. C., Graeber, T. G., Calais, J., Federman, N. C. 2023; 2023: 2480493


    Fibroblast activation protein alpha (FAP) is highly expressed by cancer-associated fibroblasts in multiple epithelial cancers. The aim of this study was to characterize FAP expression in sarcomas to explore its potential utility as a diagnostic and therapeutic target and prognostic biomarker in sarcomas.Available tissue samples from patients with bone or soft tissue tumors were identified at the University of California, Los Angeles. FAP expression was evaluated via immunohistochemistry (IHC) in tumor samples (n = 63), adjacent normal tissues (n = 30), and positive controls (n = 2) using semiquantitative systems for intensity (0 = negative; 1 = weak; 2 = moderate; and 3 = strong) and density (none, <25%, 25-75%; >75%) in stromal and tumor/nonstromal cells and using a qualitative overall score (not detected, low, medium, and high). Additionally, RNA sequencing data in publicly available databases were utilized to compare FAP expression in samples (n = 10,626) from various cancer types and evaluate the association between FAP expression and overall survival (OS) in sarcoma (n = 168).The majority of tumor samples had FAP IHC intensity scores ≥2 and density scores ≥25% for stromal cells (77.7%) and tumor cells (50.7%). All desmoid fibromatosis, myxofibrosarcoma, solitary fibrous tumor, and undifferentiated pleomorphic sarcoma samples had medium or high FAP overall scores. Sarcomas were among cancer types with the highest mean FAP expression by RNA sequencing. There was no significant difference in OS in patients with sarcoma with low versus high FAP expression.The majority of the sarcoma samples showed FAP expression by both stromal and tumor/nonstromal cells. Further investigation of FAP as a potential diagnostic and therapeutic target in sarcomas is warranted.

    View details for DOI 10.1155/2023/2480493

    View details for PubMedID 37333052

    View details for PubMedCentralID PMC10275689

  • Quality of cancer family history taking in pediatric solid tumor patients Hu, B., Kirkey, D., McGuinness, M., Wakeling, A., Kreimer, S. R., Crane, J., Rangaswami, A. A., Spunt, S. L. LIPPINCOTT WILLIAMS & WILKINS. 2023
  • A Case Report of Mediastinal Teratoma in a Pediatric Patient With Nephrotic Syndrome: Paraneoplastic Syndrome or Incidental Finding? Journal of pediatric hematology/oncology Alva, H. L., Ahn, H., Zhao, X., Obeidat, M., Charu, V., Crane, J. N., Marsenic, O. 2023


    A 12-year-old female presented with weight gain, edema, and shortness of breath. Laboratory and urine studies confirmed nephrotic syndrome and presence of a mediastinal mass, identified as a mature teratoma after resection. Nephrotic syndrome persisted despite resection and renal biopsy confirmed minimal change disease, which ultimately responded to steroid treatment. She had two relapses of nephrotic syndrome after vaccination administration, both of which occurred within eight months of tumor resection and were responsive to steroids. Autoimmune and infectious workup for other causes of nephrotic syndrome was negative. This is the first reported case of nephrotic syndrome associated with mediastinal teratoma.

    View details for DOI 10.1097/MPH.0000000000002684

    View details for PubMedID 37278520

  • Comment on: Metastatic rhabdomyosarcoma: Evidence of the impact of radiotherapy on survival. A retrospective single-center experience. Pediatric blood & cancer Crane, J. N., Donaldson, S. S., Spunt, S. L., Hiniker, S. M. 2022: e30111

    View details for DOI 10.1002/pbc.30111

    View details for PubMedID 36495537

  • Clinical group and modified TNM stage for rhabdomyosarcoma: A review from the Children's Oncology Group. Pediatric blood & cancer Crane, J. N., Xue, W., Qumseya, A., Gao, Z., Arndt, C. A., Donaldson, S. S., Harrison, D. J., Hawkins, D. S., Linardic, C. M., Mascarenhas, L., Meyer, W. H., Rodeberg, D. A., Rudzinski, E. R., Shulkin, B. L., Walterhouse, D. O., Venkatramani, R., Weiss, A. R. 2022: e29644


    The Children's Oncology Group (COG) uses Clinical Group (CG) and modified Tumor Node Metastasis (TNM) stage to classify rhabdomyosarcoma (RMS). CG is based on surgicopathologic findings and is determined after the completion of initial surgical procedure(s) but prior to chemotherapy and/or radiation therapy. The modified TNM stage is based on clinical and radiographic findings and is assigned prior to any treatment. These systems have evolved over several decades. We review the history, evolution, and rationale behind the current CG and modified TNM classification systems used by COG for RMS. Data from the seven most recently completed and reported frontline COG trials (D9602, D9802, D9803, ARST0331, ARST0431, ARST0531, ARST08P1) were analyzed, and confirm that CG and modified TNM stage remain relevant and useful for predicting prognosis in RMS. We propose updates based on recent data and discuss factors warranting future study to further optimize these classification systems.

    View details for DOI 10.1002/pbc.29644

    View details for PubMedID 35253352

  • [18F]FDG PET/CT for evaluating early response to neoadjuvant chemotherapy in pediatric patients with sarcoma: a prospective single-center trial. EJNMMI research Polverari, G., Ceci, F., Passera, R., Crane, J., Du, L., Li, G., Fanti, S., Bernthal, N., Eilber, F. C., Allen-Auerbach, M., Czernin, J., Calais, J., Federman, N. 2020; 10 (1): 122


    INTRODUCTION: This is a prospective, single-center trial in pediatric patients with sarcoma aiming to evaluate [18F]FDG PET/CT as a tool for early response assessment to neoadjuvant chemotherapy (neo-CTX).METHODS: Bone or soft tissue sarcoma patients with (1) baseline [18F]FDG PET/CT within 4weeks prior to the start of neo-CTX (PET1), (2) early interim [18F]FDG PET/CT (6weeks after the start of neo-CTX (PET2), (3) evaluation of neo-CTX response by histology or MRI, and (4) definitive therapy after neo-CTX (surgery or radiation) were included. Semiquantitative PET parameters (SUVmax, SUVmean, SUVpeak, MTV and TLG) and their changes from PET1 to PET2 (DeltaPET) were obtained. The primary endpoint was to evaluate the predictive value of PET1, PET2 and DeltaPET parameters for overall survival (OS) and time to progression (TTP). The secondary outcome was to evaluate if [18F]FDG PET/CT can predict the response to neo-CTX assessed by histopathology or MRI. Primary and secondary outcomes were also evaluated in a subpopulation of patients with bone involvement only.RESULTS: Thirty-four consecutive patients were enrolled (10 females; 24 males; median age 15.1years). 17/34 patients (50%) had osteosarcoma, 13/34 (38%) Ewing's sarcoma, 2/34 (6%) synovial sarcoma and 2/34 (6%) embryonal liver sarcoma. Median follow-up was 39months (range 16-84). Eight of 34 patients (24%) died, 9/34 (27%) were alive with disease, and 17/34 (50%) had no evidence of residual/recurrent disease. Fifteen of 34 (44%) and 19/34 (56%) were responders and non-responders, respectively. PET2-parameters were associated with longer TTP (p<0.02). DeltaMTV was associated with tissue response to neo-CTX (p=0.047). None of the PET1, PET2 or DeltaPET parameters were associated with OS.CONCLUSION: [18F]FDG PET/CT performed 6weeks after the start of neo-CTX can serve as an early interim biomarker for TTP and pathologic response but not for OS in pediatric patients with sarcoma.

    View details for DOI 10.1186/s13550-020-00715-0

    View details for PubMedID 33063147

  • A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma. Pediatric blood & cancer Crane, J. N., Chang, V. Y., Yong, W. H., Salamon, N. n., Kianmahd, J. n., Dorrani, N. n., Martinez-Agosto, J. A., Davidson, T. B. 2020; 67 (3): e28103

    View details for DOI 10.1002/pbc.28103

    View details for PubMedID 31793173

    View details for PubMedCentralID PMC7307637

  • Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis. Cancer genetics Strobel, K. M., Crane, J. N., Bradford, K. L., Naeini, Y. n., May, W. A., Chang, V. Y. 2019; 239: 33–35


    Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes to multiple malignancies, most commonly colorectal carcinoma, but has rarely been associated with lymphoma. We discuss one patient found to have Burkitt-like Lymphoma (BLL) with 11q aberration in the setting of previously undiagnosed FAP. We review the literature of FAP and associated malignancies and the provisional WHO classification of Burkitt-like lymphoma with 11q aberration. Both FAP and Burkitt-like lymphoma with 11q aberration involve perturbation of the MYC network and this may provide insight into a connection between these two diagnoses. However, further study is needed to elucidate if there is an increased risk of BLL and other subtypes of lymphoma among patients with FAP in order to provide optimal counseling and surveillance for patients with FAP.

    View details for DOI 10.1016/j.cancergen.2019.09.001

    View details for PubMedID 31520998

  • Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD AMERICAN JOURNAL OF PSYCHIATRY Yu, D., Mathews, C. A., Scharf, J. M., Neale, B. M., Davis, L. K., Gamazon, E. R., Derks, E. M., Evans, P., Edlund, C. K., Crane, J., Osiecki, L., Gallagher, P., Gerber, G., Haddad, S., Illmann, C., McGrath, L. M., Mayerfeld, C., Arepalli, S., Barlassina, C., Barr, C. L., Bellodi, L., Benarroch, F., Berrio, G. B., Bienvenu, O. J., Black, D. W., Bloch, M. H., Brentani, H., Bruun, R. D., Budman, C. L., Camarena, B., Campbell, D. D., Cappi, C., Silgado, J. C., Cavallini, M. C., Chavira, D. A., Chouinard, S., Cook, E. H., Cookson, M. R., Coric, V., Cullen, B., Cusi, D., Delorme, R., Denys, D., Dion, Y., Eapen, V., Egberts, K., Falkai, P., Fernandez, T., Fournier, E., Garrido, H., Geller, D., Gilbert, D. L., Girard, S. L., Grabe, H. J., Grados, M. A., Greenberg, B. D., Gross-Tsur, V., Gruenblatt, E., Hardy, J., Heiman, G. A., Hemmings, S. M., Herrera, L. D., Hezel, D. M., Hoekstra, P. J., Jankovic, J., Kennedy, J. L., King, R. A., Konkashbaev, A. I., Kremeyer, B., Kurlan, R., Lanzagorta, N., Leboyer, M., Leckman, J. F., Lennertz, L., Liu, C., Lochner, C., Lowe, T. L., Lupoli, S., Macciardi, F., Maier, W., Manunta, P., Marconi, M., McCracken, J. T., Restrepo, S. C., Moessner, R., Moorjani, P., Morgan, J., Muller, H., Murphy, D. L., Naarden, A. L., Nurmi, E., Ochoa, W. C., Ophoff, R. A., Pakstis, A. J., Pato, M. T., Pato, C. N., Piacentini, J., Pittenger, C., Pollak, Y., Rauch, S. L., Renner, T., Reus, V. I., Richter, M. A., Riddle, M. A., Robertson, M. M., Romero, R., Rosario, M. C., Rosenberg, D., Ruhrmann, S., Sabatti, C., Salvi, E., Sampaio, A. S., Samuels, J., Sandor, P., Service, S. K., Sheppard, B., Singer, H. S., Smit, J. H., Stein, D. J., Strengman, E., Tischfield, J. A., Turiel, M., Duarte, A. V., Vallada, H., Veenstra-VanderWeele, J., Walitza, S., Wang, Y., Weale, M., Weiss, R., Wendland, J. R., Westenberg, H. G., Shugart, Y. Y., Hounie, A. G., Miguel, E. C., Nicolini, H., Wagner, M., Ruiz-Linares, A., Cath, D. C., McMahon, W., Posthuma, D., Oostra, B. A., Nestadt, G., Routeau, G. A., Purcell, S., Jenike, M. A., Heutink, P., Hanna, G. L., Conti, D. V., Arnold, P. D., Freimer, N. B., Stewart, E., Knowles, J. A., Cox, N. J., Pauls, D. L. 2015; 172 (1): 82-93


    Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders.Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01).Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.

    View details for DOI 10.1176/appi.ajp.2014.13101306

    View details for Web of Science ID 000347146000013

    View details for PubMedID 25158072

    View details for PubMedCentralID PMC4282594

  • Genome-wide association study of obsessive-compulsive disorder MOLECULAR PSYCHIATRY Stewart, S. E., Yu, D., Scharf, J. M., Neale, B. M., Fagerness, J. A., Mathews, C. A., Arnold, P. D., Evans, P. D., Gamazon, E. R., Osiecki, L., McGrath, L., HADDAD, S., Crane, J., Hezel, D., Illman, C., Mayerfeld, C., Konkashbaev, A., Liu, C., Pluzhnikov, A., Tikhomirov, A., Edlund, C. K., Rauch, S. L., Moessner, R., Falkai, P., Maier, W., Ruhrmann, S., Grabe, H., Lennertz, L., Wagner, M., Bellodi, L., Cavallini, M. C., Richter, M. A., Cook, E. H., Kennedy, J. L., Rosenberg, D., Stein, D. J., Hemmings, S. M., Lochner, C., Azzam, A., Chavira, D. A., Fournier, E., Garrido, H., Sheppard, B., Umana, P., Murphy, D. L., Wendland, J. R., Veenstra-Vanderweele, J., Denys, D., Blom, R., Deforce, D., Van Nieuwerburgh, F., Westenberg, H. G., Walitza, S., Egberts, K., Renner, T., Miguel, E. C., Cappi, C., Hounie, A. G., do Rosario, M. C., SAMPAIO, A. S., Vallada, H., Nicolini, H., Lanzagorta, N., Camarena, B., Delorme, R., Leboyer, M., Pato, C. N., Pato, M. T., Voyiaziakis, E., Heutink, P., Cath, D. C., Posthuma, D., Smit, J. H., Samuels, J., Bienvenu, O. J., Cullen, B., Fyer, A. J., Grados, M. A., Greenberg, B. D., McCracken, J. T., Riddle, M. A., Wang, Y., Coric, V., Leckman, J. F., Bloch, M., Pittenger, C., Eapen, V., Black, D. W., Ophoff, R. A., Strengman, E., Cusi, D., Turiel, M., Frau, F., Macciardi, F., Gibbs, J. R., Cookson, M. R., Singleton, A., Hardy, J., Crenshaw, A. T., Parkin, M. A., Mirel, D. B., Conti, D. V., Purcell, S., Nestadt, G., Hanna, G. L., Jenike, M. A., Knowles, J. A., Cox, N., Pauls, D. L. 2013; 18 (7): 788-798


    Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the genetic variation predisposing to OCD. A set of individuals affected with DSM-IV OCD, a subset of their parents, and unselected controls, were genotyped with several different Illumina SNP microarrays. After extensive data cleaning, 1465 cases, 5557 ancestry-matched controls and 400 complete trios remained, with a common set of 469,410 autosomal and 9657 X-chromosome single nucleotide polymorphisms (SNPs). Ancestry-stratified case-control association analyses were conducted for three genetically-defined subpopulations and combined in two meta-analyses, with and without the trio-based analysis. In the case-control analysis, the lowest two P-values were located within DLGAP1 (P=2.49 × 10(-6) and P=3.44 × 10(-6)), a member of the neuronal postsynaptic density complex. In the trio analysis, rs6131295, near BTBD3, exceeded the genome-wide significance threshold with a P-value=3.84 × 10(-8). However, when trios were meta-analyzed with the case-control samples, the P-value for this variant was 3.62 × 10(-5), losing genome-wide significance. Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation QTLs (P<0.001) and frontal lobe expression quantitative trait loci (eQTLs) (P=0.001) was observed within the top-ranked SNPs (P<0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.

    View details for DOI 10.1038/mp.2012.85

    View details for Web of Science ID 000320712700012

    View details for PubMedID 22889921

    View details for PubMedCentralID PMC4218751

  • Genome-wide association study of Tourette's syndrome. Molecular psychiatry Scharf, J. M., Yu, D., Mathews, C. A., Neale, B. M., Stewart, S. E., Fagerness, J. A., Evans, P., Gamazon, E., Edlund, C. K., Service, S. K., Tikhomirov, A., Osiecki, L., Illmann, C., Pluzhnikov, A., Konkashbaev, A., Davis, L. K., Han, B., Crane, J., Moorjani, P., Crenshaw, A. T., Parkin, M. A., Reus, V. I., Lowe, T. L., Rangel-Lugo, M., Chouinard, S., Dion, Y., Girard, S., Cath, D. C., Smit, J. H., King, R. A., Fernandez, T. V., Leckman, J. F., Kidd, K. K., Kidd, J. R., Pakstis, A. J., State, M. W., Herrera, L. D., Romero, R., Fournier, E., Sandor, P., Barr, C. L., Phan, N., Gross-Tsur, V., Benarroch, F., Pollak, Y., Budman, C. L., Bruun, R. D., Erenberg, G., Naarden, A. L., Lee, P. C., Weiss, N., Kremeyer, B., Berrío, G. B., Campbell, D. D., Cardona Silgado, J. C., Ochoa, W. C., Mesa Restrepo, S. C., Muller, H., Valencia Duarte, A. V., Lyon, G. J., Leppert, M., Morgan, J., Weiss, R., Grados, M. A., Anderson, K., Davarya, S., Singer, H., Walkup, J., Jankovic, J., Tischfield, J. A., Heiman, G. A., Gilbert, D. L., Hoekstra, P. J., Robertson, M. M., Kurlan, R., Liu, C., Gibbs, J. R., Singleton, A., Hardy, J., Strengman, E., Ophoff, R. A., Wagner, M., Moessner, R., Mirel, D. B., Posthuma, D., Sabatti, C., Eskin, E., Conti, D. V., Knowles, J. A., Ruiz-Linares, A., Rouleau, G. A., Purcell, S., Heutink, P., Oostra, B. A., McMahon, W. M., Freimer, N. B., Cox, N. J., Pauls, D. L. 2013; 18 (6): 721-728


    Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.

    View details for DOI 10.1038/mp.2012.69

    View details for PubMedID 22889924

    View details for PubMedCentralID PMC3605224

  • Meta-analysis of association between obsessive-compulsive disorder and the 3 ' region of neuronal glutamate transporter gene SLC1A1 AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS Stewart, S. E., Mayerfeld, C., Arnold, P. D., Crane, J. R., O'Dushlaine, C., Fagerness, J. A., Yu, D., Scharf, J. M., Chan, E., Kassam, F., Moya, P. R., Wendland, J. R., Delorme, R., Richter, M. A., Kennedy, J. L., Veenstra-Vanderweele, J., Samuels, J., Greenberg, B. D., McCracken, J. T., Knowles, J. A., Fyer, A. J., Rauch, S. L., Riddle, M. A., Grados, M. A., Bienvenu, O. J., Cullen, B., Wang, Y., Shugart, Y. Y., Piacentini, J., Rasmussen, S., Nestadt, G., Murphy, D. L., Jenike, M. A., Cook, E. H., Pauls, D. L., Hanna, G. L., Mathews, C. A. 2013; 162B (4): 367-379


    The neuronal glutamate transporter gene SLC1A1 is a candidate gene for obsessive-compulsive disorder (OCD) based on linkage studies and convergent evidence implicating glutamate in OCD etiology. The 3' end of SLC1A1 is the only genomic region with consistently demonstrated OCD association, especially when analyzing male-only probands. However, specific allele associations have not been consistently replicated, and recent OCD genome-wide association and meta-analysis studies have not incorporated all previously associated SLC1A1 SNPs. To clarify the nature of association between SLC1A1 and OCD, pooled analysis was performed on all available relevant raw study data, comprising a final sample of 815 trios, 306 cases and 634 controls. This revealed weak association between OCD and one of nine tested SLC1A1 polymorphisms (rs301443; uncorrected P = 0.046; non-significant corrected P). Secondary analyses of male-affecteds only (N = 358 trios and 133 cases) demonstrated modest association between OCD and a different SNP (rs12682807; uncorrected P = 0.012; non-significant corrected P). Findings of this meta-analysis are consistent with the trend of previous candidate gene studies in psychiatry and do not clarify the putative role of SLC1A1 in OCD pathophysiology. Nonetheless, it may be important to further examine the potential associations demonstrated in this amalgamated sample, especially since the SNPs with modest associations were not included in the more highly powered recent GWAS or in a past meta-analysis including five SLC1A1 polymorphisms. This study underscores the need for much larger sample sizes in future genetic association studies and suggests that next-generation sequencing may be beneficial in examining the potential role of rare variants in OCD.

    View details for DOI 10.1002/ajmg.b.32137

    View details for Web of Science ID 000319416100005

    View details for PubMedID 23606572

  • Association between polymorphisms in GRIK2 gene and obsessive-compulsive disorder: a family-based study. CNS neuroscience & therapeutics Sampaio, A. S., Fagerness, J., Crane, J., Leboyer, M., Delorme, R., Pauls, D. L., Stewart, S. E. 2011; 17 (3): 141-7


    Several studies support a genetic influence on obsessive-compulsive disorder (OCD) etiology. The role of glutamate as an important neurotransmitter affecting OCD pathophysiology has been supported by neuroimaging, animal model, medication, and initial candidate gene studies. Genes involved in glutamatergic pathways, such as the glutamate receptor, ionotropic, kainate 2 (GRIK2), have been associated with OCD in previous studies. This study examines GRIK2 as a candidate gene for OCD susceptibility in a family-based approach. Probands had full DSM-IV diagnostic criteria for OCD. Forty-seven OCD probands and their parents were recruited from tertiary care OCD specialty clinics from France and USA. Genotypes of single nucleotide polymorphism (SNP) markers and related haplotypes were analyzed using Haploview and FBAT software. The polymorphism at rs1556995 (P= 0.0027; permuted P-value = 0.03) was significantly associated with the presence of OCD. Also, the two marker haplotype rs1556995/rs1417182, was significantly associated with OCD (P= 0.0019, permuted P-value = 0.01). This study supports previously reported findings of association between proximal GRIK2 SNPs and OCD in a comprehensive evaluation of the gene. Further study with independent samples and larger sample sizes is required.

    View details for DOI 10.1111/j.1755-5949.2009.00130.x

    View details for PubMedID 20370803

    View details for PubMedCentralID PMC6493828

  • Family-based genetic association study of DLGAP3 in Tourette Syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Crane, J. n., Fagerness, J. n., Osiecki, L. n., Gunnell, B. n., Stewart, S. E., Pauls, D. L., Scharf, J. M. 2011; 156B (1): 108–14


    Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder that is familial and highly heritable. Although genetic influences are thought to play a significant role in the development of TS, no definite TS susceptibility genes have been identified to date. TS is believed to be genetically related to both obsessive-compulsive disorder (OCD) and grooming disorders (GD) such as trichotillomania (TTM). SAP90/PSD95-associated protein 3 (SAPAP3/DLGAP3) is a post-synaptic scaffolding protein that is highly expressed in glutamatergic synapses in the striatum and has recently been investigated as a candidate gene in both OCD and GD studies. Given the shared familial relationship between TS, OCD and TTM, DLGAP3 was evaluated as a candidate TS susceptibility gene. In a family-based sample of 289 TS trios, 22 common single nucleotide polymorphisms (SNPs) in the DLGAP3 region were analyzed. Nominally significant associations were identified between TS and rs11264126 and two haplotypes containing rs11264126 and rs12141243. Secondary analyses demonstrated that these results cannot be explained by the presence of comorbid OCD or TTM in the sample. Although none of these results remained significant after correction for multiple hypothesis testing, DLGAP3 remains a promising candidate gene for TS.

    View details for DOI 10.1002/ajmg.b.31134

    View details for PubMedID 21184590

    View details for PubMedCentralID PMC3066268

  • A neuropsychological study comparing patients infected with HCV and HBV without psychiatric comorbidities. Journal of medical virology Quarantini, L. C., Miranda-Scippa, A., Batista-Neves, S., Powell, V. B., Abreu, N., Abreu, K. C., Moura, I., Crane, J., Sampaio, A. S., Netto, L. R., Deoliveira, I. R., Paraná, R., Bressan, R. A., Lacerda, A. L. 2009; 81 (7): 1184-8


    Hepatitis C is one of the most common chronic infectious diseases worldwide, with well-documented extra-hepatic manifestations, such as a broad number of cognitive deficits. These impairments may be explained by psychiatric comorbidities, which have not been investigated properly in the literature. In order to elucidate a specific hepatitis C virus (HCV) induced cognitive impairment not related to mental disorders, neuropsychological performance of patients infected with HCV was compared with that of patients infected with hepatitis B virus cognitive impairment, especially psychiatric comorbidities. A total of 33 patients infected with HCV and 22 patients infected with HBV were included in the study. There were no significant differences between the two groups with regard to age or years of education. The group of patients infected with HCV performed significantly worse on visuo-spatial memory tasks after adjusting for years of education and age. There were no significant differences between patients infected with HCV and patients infected with HBV with regards to other neuropsychological functions. The data indicate that patients infected with HCV patients have poorer visuo-spatial memory performance than patients infected with HBV, suggesting that the cognitive deficit may be specific to HCV infection and not to secondary comorbid psychiatric disorders.

    View details for DOI 10.1002/jmv.21508

    View details for PubMedID 19475611

  • Religion and cancer: examining the possible connections. Journal of psychosocial oncology Crane, J. N. 2009; 27 (4): 469–86


    Numerous sound scientific studies (cross-sectional and longitudinal) have found a positive correlation between religion and physical and mental health. In particular, there is evidence that demonstrates that religion helps cancer patients better adjust to and cope with their disease, at least psychologically. However, some research suggests that mediating factors associated with religion may explain the positive effects of religion on health. This article argues that even if this is the case, there is still intrinsic value to religion in that the mediators themselves are strongly connected to religion, and therefore religion is important to the patient in terms of coping, support, hope, and meaning. This has possible important implications for clinical practice.

    View details for DOI 10.1080/07347330903182010

    View details for PubMedID 19813136