Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders.

ABSTRACT: Genome-wide association studies (GWAS) of complex traits, such as alcohol use disorders (AUD), usually identify variants in non-coding regions and cannot by themselves distinguish whether the associated variants are functional or in linkage disequilibrium with the functional variants. Transcriptome studies can identify genes whose expression differs between alcoholics and controls. To test which variants associated with AUD may cause expression differences, we integrated data from deep RNA-seq and GWAS of four postmortem brain regions from 30 subjects with AUD and 30 controls to analyze allele-specific expression (ASE). We identified 88 genes with differential ASE in subjects with AUD compared to controls. Next, to test one potential mechanism contributing to the differential ASE, we analy

SUBMITTER: Rao X 

PROVIDER: S-EPMC7050407 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature