Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.

ABSTRACT:

Background

Heart failure (HF) is a morbid and heritable disorder for which the biological mechanisms are incompletely understood. We therefore examined genetic associations with HF in a large national biobank, and assessed whether refined phenotypic classification would facilitate genetic discovery.

Methods

We defined all-cause HF among 488 010 participants from the UK Biobank and performed a genome-wide association analysis. We refined the HF phenotype by classifying individuals with left ventricular dysfunction and without coronary artery disease as having nonischemic cardiomyopathy (NICM), and repeated a genetic association analysis. We then pursued replication of lead HF and NICM variants in independent cohorts, and performed adjusted association analyses to assess wheth

SUBMITTER: Aragam KG 

PROVIDER: S-EPMC6511334 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature