Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects.

ABSTRACT: Interpreting the susceptible loci documented by genome-wide association studies (GWASs) is of utmost importance in the post-GWAS era. Since most complex traits are contributed by multiple tissues, analyzing tissue-specific effects of expression quantitative trait loci (eQTLs) is a promising approach. Here we describe "opposite eQTL effects", i.e., gene expression effects of eQTLs that are in the opposite direction between different tissues, as the biologically meaningful annotations of genes and genetic variants for understanding the GWAS loci. The genes and single-nucleotide polymorphisms (SNPs) associated with the opposite eQTL effects (opp-multi-eQTL-Genes and opp-multi-eQTL-SNPs) were extracted from the largest eQTL database provided by the Genotype-Tissue Expression (GTEx) project (re

SUBMITTER: Mizuno A 

PROVIDER: S-EPMC6871526 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature