Role of expression quantitative trait loci (eQTL) in understanding genetic mechanisms underlying common complex diseases.

ABSTRACT: Attaining a complete understanding of the genetic architecture underlying common complex traits is challenging due to the substantial contributions of nongenetic factors and the involvement of numerous influencing genes. Genome-wide association studies (GWAS) have identified novel variants associated with such traits, but our understanding of the molecular genetic mechanisms underlying those associations remains limited. Additionally, variants without significant associations from GWAS can influence gene expression, contributing to individual-level variation in traits. This review summarizes the evolution, advancements in, and practical applications of expression quantitative trait loci analysis. Recent large-scale expression quantitative trait loci studies, often at the single-cell level,

SUBMITTER: Hong SE 

PROVIDER: S-EPMC12357303 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature