Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

ABSTRACT: Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-ass

SUBMITTER: Baillie JK 

PROVIDER: S-EPMC5849332 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature