Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.

ABSTRACT: Identifying causal genetic variants and understanding their mechanisms of effect on traits remains a challenge in genome-wide association studies (GWASs). In particular, how genetic variants (i.e., trans-eQTLs) affect expression of remote genes (i.e., trans-eGenes) remains unknown. We hypothesized that some trans-eQTLs regulate expression of distant genes by altering the expression of nearby genes (cis-eGenes). Using published GWAS datasets with 39,165 single-nucleotide polymorphisms (SNPs) associated with 1,960 traits, we explored whole blood gene expression associations of trait-associated SNPs in 5,257 individuals from the Framingham Heart Study. We identified 2,350 trans-eQTLs (at p < 10^-7); more than 80% of them were found to have cis-associated eGenes. Mediation testing su

SUBMITTER: Yao C 

PROVIDER: S-EPMC5384035 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature