Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.

ABSTRACT: Genome-wide association studies (GWAS) aim to identify genetic factors associated with phenotypes. Standard analyses test variants for associations individually. However, variant-level associations are hard to identify and can be difficult to interpret biologically. Enrichment analyses help address both problems by targeting sets of biologically related variants. Here we introduce a new model-based enrichment method that requires only GWAS summary statistics. Applying this method to interrogate 4,026 gene sets in 31 human phenotypes identifies many previously-unreported enrichments, including enrichments of endochondral ossification pathway for height, NFAT-dependent transcription pathway for rheumatoid arthritis, brain-related genes for coronary artery disease, and liver-related genes for

SUBMITTER: Zhu X 

PROVIDER: S-EPMC6195536 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature