You are here

Genome-wide association studies of cardiovascular risk factors: design, conduct and interpretation.

TitleGenome-wide association studies of cardiovascular risk factors: design, conduct and interpretation.
Publication TypeJournal Article
Year of Publication2009
AuthorsBis, JC, Glazer, NL, Psaty, BM
JournalJ Thromb Haemost
Volume7 Suppl 1
Pagination308-11
Date Published2009 Jul
ISSN1538-7836
KeywordsCardiovascular Diseases, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Quantitative Trait Loci, Risk Factors
Abstract<p>Relying on known biology, candidate-gene studies have been only modestly successful in identifying genetic variants associated with cardiovascular risk factors. Genome-wide association (GWA) studies, in contrast, allow broad scans across millions of loci in search of unsuspected genetic associations with phenotypes. The large numbers of statistical tests in GWA studies and the large sample sizes required to detect modest-sized associations have served as a powerful incentive for the development of large collaborative efforts such as the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. This article uses published data on three phenotypes, fibrinogen, uric acid, and electrocardiographic QT interval duration, from the CHARGE Consortium to describe several methodologic issues in the design, conduct, and interpretation of GWA studies, including the use of imputation and the need for additional genotyping. Even with large studies, novel genetic loci explain only a small proportion of the variance of cardiovascular phenotypes.</p>
DOI10.1111/j.1538-7836.2009.03392.x
Alternate JournalJ. Thromb. Haemost.
PubMed ID19630823
PubMed Central IDN/A
Grant ListHL080295 / HL / NHLBI NIH HHS / United States
HL085251 / HL / NHLBI NIH HHS / United States
HL087652 / HL / NHLBI NIH HHS / United States
HL74745 / HL / NHLBI NIH HHS / United States