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Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

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  • The IBC 50K CAD Consortium

Abstract

Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through which the novel variants could affect CAD risk were explored through association tests with vascular risk factors and gene expression. We confirmed associations of several previously known CAD susceptibility loci (eg, 9p21.3:p

Suggested Citation

  • The IBC 50K CAD Consortium, 2011. "Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease," PLOS Genetics, Public Library of Science, vol. 7(9), pages 1-14, September.
    • Handle: RePEc:plo:pgen00:1002260
    DOI: 10.1371/journal.pgen.1002260
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