Application of GWAS and QTL combined analysis in the genetic pathogenic mechanism underlying age-related macular degeneration
10.3760/cma.j.cn115989-20230530-00201
- VernacularTitle:GWAS和QTL联合分析在年龄相关性黄斑变性遗传学发病机制研究中的应用
- Author:
Weiran ZHANG
1
;
Sennan WANG
;
Zhiqing LI
;
Yan ZHANG
Author Information
1. 天津医科大学眼科医院 天津医科大学眼科医院眼视光学院 天津医科大学眼科医院眼科研究所 国家眼耳鼻喉疾病临床医学研究中心天津市分中心 天津市视网膜功能与疾病重点实验室，天津 300384
- Publication Type:Journal Article
- Keywords:
Genome-wide association study;
Quantitative trait locus;
Age-related macular degeneration;
Retina
- From:
Chinese Journal of Experimental Ophthalmology
2025;43(7):651-655
- CountryChina
- Language:Chinese
-
Abstract:
Age-related macular degeneration (AMD) seriously endangers the visual health of the elderly, and its incidence rate is on the rise in recent years.As the aging of the population intensifies, the incidence rate of AMD will continue to rise.Therefore, it is crucial to explore its genetic pathogenic mechanism.Genome-wide association studies (GWAS) have identified a large number of single nucleotide polymorphisms associated with AMD.However, most of these polymorphisms are located in noncoding regions, and their functions are unclear.Therefore, revealing the regulatory effects of the genetic variations on gene expression, protein levels, and metabolite abundance serves as a powerful tool for deciphering the functions of noncoding variations discovered in GWAS.Furthermore, combining quantitative trait loci (QTLs) with GWAS can effectively explain GWAS data and increase the likelihood of discovering statistically significant genetic variation loci.This review summarizes research on the analysis and integration of GWAS combined with QTL data, aiming to better understand the impact of gene variations on the occurrence and development of AMD, thereby providing new ideas for searching for effective therapeutic targets for AMD.
