Optimal variable identification for accurate detection of causal expression Quantitative Trait Loci with applications in heart-related diseases.

ABSTRACT: Gene expression plays a pivotal role in various diseases, contributing significantly to their mechanisms. Most GWAS risk loci are in non-coding regions, potentially affecting disease risk by altering gene expression in specific tissues. This expression is notably tissue-specific, with genetic variants substantially influencing it. However, accurately detecting the expression Quantitative Trait Loci (eQTL) is challenging due to limited heritability in gene expression, extensive linkage disequilibrium (LD), and multiple causal variants. The single variant association approach in eQTL analysis is limited by its susceptibility to capture the combined effects of multiple variants, and a bias towards common variants, underscoring the need for a more robust method to accurately identify causal eQ

SUBMITTER: Wang G 

PROVIDER: S-EPMC11215961 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature