Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity.

ABSTRACT: Uncovering the functional impact of genetic variation on gene expression is important in understanding tissue biology and the pathogenesis of complex traits. Despite large efforts to map expression quantitative trait loci (eQTLs) across many human tissues, our ability to translate those findings to understanding human disease has been incomplete, and the majority of disease loci are not explained by association with expression of a target gene. Cell-type specificity and the presence of multiple independent causal variants for many eQTLs are potential confounders contributing to the apparent discrepancy with disease loci. In this study, we investigate the tissue specificity of genetic effects on gene expression and the overlap with disease loci while considering the presence of multiple cau

SUBMITTER: Arvanitis M 

PROVIDER: S-EPMC8874223 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature