ID
45619
Descrição
Principal Investigator: Katherine Nathanson, MD, Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA MeSH: Testicular Germ Cell Tumor,Nonseminomatous germ cell tumor,Cryptorchidism,Genetic Loci https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001349 Testicular germ cell tumors (TGCT) are the most common cancers in young men of European ancestry aged 20 to 39 years. The Testicular Cancer Consortium (TECAC) has brought together the largest genome-wise association study (GWAS) study of TGCT to date. We conducted a GWAS of 5,602 cases and 5,006 controls aggregated from 12 locations in the US and Europe. Logistic regression models adjusted for study center and genomic ancestry. Genotypes were imputed against the Human Haplotype Reference Consortium. Meta-analysis was performed to combine GWAS results with summary statistics from five previously published TGCT studies, UK Biobank, deCODE Genetics, and an independent set of cases and controls, for a total of 10,156 cases and 179,683 controls. 22 novel and 45 previously reported loci associated with TGCT surpassed genome-wide significance (p 5e-08).
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- 27/2/23 27/2/23 - Simon Heim
Titular dos direitos
Katherine Nathanson, MD, Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
Transferido a
27 de febrero de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001349 Identification of 22 Novel Loci Associated with Susceptibility to Testicular Germ Cell Tumors
This subject consent data table includes subject IDs and consent group information.
- StudyEvent: SEV1
- This subject consent data table includes subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs and sample aliases. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes subject's sex, race, ethnicity, race from PCA, and affection status for Testicular Germ Cell Tumors (TGCT).
- This sample attributes data table includes body site where sample was collected, analyte type, histological type, tumor status, case/control status for Testicular Germ Cell Tumors (TGCT), histology and side of first and second TGCT cases, family history of TGCT (n=4 variables), and medical history of cryptorchidism (n=2 variables).
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This subject consent data table includes subject IDs and consent group information.
- StudyEvent: SEV1
- This subject consent data table includes subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs and sample aliases. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes subject's sex, race, ethnicity, race from PCA, and affection status for Testicular Germ Cell Tumors (TGCT).
- This sample attributes data table includes body site where sample was collected, analyte type, histological type, tumor status, case/control status for Testicular Germ Cell Tumors (TGCT), histology and side of first and second TGCT cases, family history of TGCT (n=4 variables), and medical history of cryptorchidism (n=2 variables).
C0441833 (UMLS CUI [1,2])