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Updated: Sep 14, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Role of expression quantitative trait loci (eQTL) in understanding genetic mechanisms underlying common complex
Sung Eun Hong1, Murim Choi1, Jeongha Lee1
1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
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, provide an opportunity to explain how at least some GWAS variants behave and to elucidate the mechanisms underlying individual-level variations. This approach can further be utilized to identify novel drug targets that are tailored to individuals harboring specific genotypes.
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