be230cLecture11

Genes mapped to cadmi suscepbbility loci show

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Unformatted text preview: enes. Rather, most loci harbor genes that have not been anBcipated to be involved in the pathogenesis of atherosclerosis. Many loci are devoid of protein ­coding genes. For some variants, the signal is even located in gene deserts. Many CAD/MI ­associated loci show expression quanBtaBve trait locus (eQTL) effects, ie, they affect the expression level of genes either in cis (at the locus) or in trans (at remote locaBons) With the excepBon of 7q32.2 (ZC3HC1) and 15q25 (MORF4L1), most loci show pleiotropic effects. The most pleiotropic loci are 11q23.3 (ZNF259 ­APOA5 ­APOA4 ­APOA1 ­APOC3) and 9p21.3 (CDKN2A/ CDKN2B), which harbor 26 and 20 staBsBcally significant associaBons with various phenotypes, respecBvely. Most variants increase the probability of CAD and MI only by a relaBvely small margin (≈5%–20%). Almost all CAD and MI loci were...
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This document was uploaded on 04/09/2014.

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