Robustness of quantifying mediating effects of genetically regulated expression on complex traits with mediated expression score regression.

ABSTRACT: Genetic association signals have been mostly found in noncoding regions through genome-wide association studies (GWAS), suggesting the roles of gene expression regulation in human diseases and traits. However, there has been limited success in colocalizing expression quantitative trait locus (eQTL) with disease-associated variants. Mediated expression score regression (MESC) is a recently proposed method to quantify the proportion of trait heritability mediated by genetically regulated gene expressions (GReX). Applications of MESC to GWAS results have yielded low estimation of mediated heritability for many traits. As MESC relies on stringent independence assumptions between cis-eQTL effects, gene effects, and nonmediated SNP effects, it may fail to characterize the true relationshi

SUBMITTER: Lin C 

PROVIDER: S-EPMC10599978 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature