Pleiotropic expression quantitative trait loci are enriched in enhancers and transcription factor binding sites and impact more genes.

ABSTRACT: Integrating expression quantitative trait loci (eQTL) data with genome-wide association studies (GWAS) enables the discovery of pleiotropic gene regulatory variants that influence a wide range of traits and disease susceptibilities. However, a comprehensive understanding of the distribution of pleiotropic QTLs across the genome and their phenotypic associations remain limited. In this study, we systematically annotated genetic variants associated with both trait variation and gene expression changes, focusing specifically on the unique characteristics of pleiotropic eQTLs. By integrating data from 127 eQTL studies and 417 traits from the IEU Open GWAS Project, we identified 476 pleiotropic eQTL variants affecting two or more distinct traits. Our analysis highlighted 5345 eQTL candidates po

SUBMITTER: Gonzalez A 

PROVIDER: S-EPMC11635986 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature