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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 Diabetes Heart Study (DHS) is a family-based study enriched for type 2 diabetes (T2D). The cohort included 1443 European American and African American participants from 564 families with multiple cases of type 2 diabetes (Bowden et al., 2010. Review of Diabetic Studies 7:188-201. PMID: 21409311). The cohort was recruited between 1998 and 2006. Participants were extensively phenotyped for measures of subclinical CVD and other known CVD risk factors. Primary outcomes were quantified burden of vascular calcified plaque in the coronary artery, carotid artery, and abdominal aorta all determined from non-contrast computed tomography scans.

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

Recruitment into DHS:

Inclusion: Singletons with T2D and siblings concordant for T2D with T2D developing after the age of 35 years and treated with insulin and/or oral agents and confirmed by measurement of blood glucose and glycosylated hemoglobin at recruitment.

Exclusion: Historical evidence of ketoacidosis.

DHS participants with CAC were selected for WGS in TOPMed, prioritizing inclusion of families.

Study History

1998-2006: Recruitment and Participant Visits

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
  • Principal Investigators
    • Donald W. Bowden. Wake Forest School of Medicine, Winston-Salem, NC, USA.
    • Barry I. Freedman. Wake Forest School of Medicine, Winston-Salem, NC, USA.
    • J. Jeffrey Carr. Wake Forest School of Medicine, Winston-Salem, NC, USA.
    • Carl D. Langefeld. Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Funding Sources
    • R01 HL067348. National Institutes of Health, Bethesda, MD, USA.