Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure.

ABSTRACT: Failure of the human heart to maintain sufficient output of blood for the demands of the body, heart failure, is a common condition with high mortality even with modern therapeutic alternatives. To identify molecular determinants of mortality in patients with new-onset heart failure, we performed a meta-analysis of genome-wide association studies and follow-up genotyping in independent populations. We identified and replicated an association for a genetic variant on chromosome 5q22 with 36% increased risk of death in subjects with heart failure (rs9885413, P = 2.7x10-9). We provide evidence from reporter gene assays, computational predictions and epigenomic marks that this polymorphism increases activity of an enhancer region active in multiple human tissues. The polymorphism was further r

SUBMITTER: Smith JG 

PROVIDER: S-EPMC4858216 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature