@article{Jia2026, 
author = {Zhe Jia and Jing Xu and Yingnan Ma and Siyu Wei and Chen Sun and Xingyu Chen and Jingxuan Kang and Haiyan Chen and Chen Zhang and Yu Dong and Junxian Tao and Xuying Guo and Hongchao Lv and Guoping Tang and Yongshuai Jiang and Mingming Zhang},
title = {eQTL analysis: A bridge from genome to mechanism},
year = {2026},
journal = {Genes & Diseases},
volume = {13},
number = {3},
keywords = {Expression quantitative trait locus, Gene expression, Genetic variation, Genome-wide association study, Single nucleotide polymorphism},
url = {https://www.sciopen.com/article/10.1016/j.gendis.2025.101850},
doi = {10.1016/j.gendis.2025.101850},
abstract = {Expression quantitative trait locus (eQTL) refers to a genetic variation associated with the expression of specific genes. It has been widely applied to explain the regulatory mechanisms linking genetic variations to complex traits or diseases. Several eQTLs have been identified from tissues and single cells in individuals. Furthermore, the integration of eQTL and other omics data can be used to detect novel susceptibility genes and consequently understand the dynamic regulation of trait-associated genetic variations at the system level. Here, we review the identification methods, analysis tools, research progress, and common data resources of eQTLs, as well as their role in four typical diseases. Finally, we discussed the application fields, challenges, and future development perspectives of eQTL.}
}