ID
45463
Description
Principal Investigator: Stephen Rich, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Stroke,Brain Ischemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000546 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The Ischemic Stroke Genetics Study (ISGS) is a study of newly onset cases (~600) with ischemic stroke (a stroke due to sudden interruption of blood flow to a part of the brain) compared with sex- and age-matched non-stroke participants. The study was conducted to determine the genes and their variants that contribute to an individual's risk of developing an ischemic stroke. The coordination of the recruitment and flow of the samples occurred at the Mayo Clinic, Jacksonville, FL, under the direction of James F. Meschia, MD. The University of Virginia (Stephen S. Rich, PhD) served as the analytic site for the genetic data. All GWAS data on ISGS participants have been deposited into dbGaP. As part of the NHLBI Exome Sequencing Project, DNA from a subset of ISGS participants will undergo exome sequencing. For the NHLBI ESP, a subset of 92 individuals with lacunar (small vessel) or atherosclerotic (large vessel) TOAST subtypes were selected from among all ISGS participants, excluding those individuals with TOAST subtypes of stroke of other etiology or of stroke with undetermined etiology. All 92 samples pass initial quality control metrics and 89 samples completed exome sequencing. A total of 75 participants with appropriate consent and variant calls had their genetic and phenotypic data deposited into dbGaP.
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Versions (2)
- 11/2/22 11/2/22 - Simon Heim
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Stephen Rich, PhD, University of Virginia, Charlottesville, VA, USA
Uploaded on
December 13, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000546 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (ISGS)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent information for subjects in the ISGS study.
- The subject sample mapping data table contains a mapping of subject IDs to sample IDs, ESP 6800 vcf IDs, Coriell IDs, and sample use.
- The subject phenotype data table contains variables of sociodemography (n=3; gender, ethnicity, and race), study name, ESP phenotype, subject's medical history (n=3 variables; hypertension, MI, and diabetes), ESP phenotype, age of enrollment and stroke, TOAST, blood pressure measurements, and anthropometric measurements, cholesterol measurements (n=3 variables), medications (n=2 variables), and smoking status.
- The sample attributes data table includes sample analyte type (DNA), body site where the sample was extracted, histological type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent information for subjects in the ISGS study.
- The subject sample mapping data table contains a mapping of subject IDs to sample IDs, ESP 6800 vcf IDs, Coriell IDs, and sample use.
- The subject phenotype data table contains variables of sociodemography (n=3; gender, ethnicity, and race), study name, ESP phenotype, subject's medical history (n=3 variables; hypertension, MI, and diabetes), ESP phenotype, age of enrollment and stroke, TOAST, blood pressure measurements, and anthropometric measurements, cholesterol measurements (n=3 variables), medications (n=2 variables), and smoking status.
- The sample attributes data table includes sample analyte type (DNA), body site where the sample was extracted, histological type, and tumor status.
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