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Study Description

This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. TOPMed is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole-genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program aims to uncover factors that increase or decrease the risk of disease, to identify subtypes of disease, and to develop more targeted and personalized treatments. Two genotype call sets derived from WGS are now available, Freeze 8 (GRCh38) and Freeze 9b (GRCh38), with largely overlapping sample sets. Information about how to identify other TOPMed WGS accessions for cross-study analysis, as well as descriptions of TOPMed methods of data acquisition, data processing and quality control, are provided in the accompanying documents, "TOPMed Whole Genome Sequencing Project - Freeze 8, Phases 1-4" and "TOPMed Whole Genome Sequencing Project - Freeze 9b, Phases 1-4". Please check the study list at the top of each of these methods documents to determine whether it applies to this study accession.

The Hypertension Genetic Epidemiology Network Study (HyperGEN) - Genetics of Left Ventricular (LV) Hypertrophy is a familial study aimed to understand genetic risk factors for LV hypertrophy by conducting genetic studies of continuous traits from echocardiography exams. The originating HyperGEN study aimed to understand genetic risk factors for hypertension. Data from detailed clinical exams as well as genotyping data for linkage studies, candidate gene studies and GWAS have been collected and is shared between HyperGEN and the ancillary HyperGEN - Genetics of LV Hypertrophy study.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

HyperGEN recruited 470 multiply-affected population-based hypertensive AA sibships (N=1224 siblings) from 1996-1999. HyperGEN probands were ascertained by early onset hypertension (i.e., before 60 years); to participate, they had to have at least one hypertensive sibling who was also willing to participate. Hypertension was defined according to antihypertensive treatment or BP (systolic BP ≥140 or diastolic BP ≥90 measured on at least at two time points); Type 1 diabetes and renal failure were exclusion criteria. The HyperGEN study extended recruitment to include all offspring (n=546) of the proband and his/her siblings during the second 5-year funding period. HyperGEN also recruited participants randomly selected from the source cohorts where the families were ascertained to represent population allele frequencies; 414 African American participants were recruited randomly. In total, ~2,200 African-American participants were examined and gave permission for DNA testing and sharing from sites in Birmingham, AL and Winston-Salem, NC. Of those ~2000 have data recorded from an echocardiography exam and were included in the TOPMed study of LV hypertrophy and related traits.

Study History

The parent HyperGEN study includes both black and white participants. The HyperGEN-Genetics of LV Hypertrophy TopMED supplement study includes genotype and phenotype data from 2104 black participants, the majority of them with echocardiographic data.

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
Links to Related Resources
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
  • Principal Investigator
    • Donna K. Arnett, PhD. School of Public Health, University of Kentucky, Lexington, KY, USA.
  • Funding Source
    • R01 HL55673. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.