该基因多态性与近视的关联。

Association of polymorphisms in the gene with myopia.

作者信息

Chen Shu Ying, Xu You Mei, Tam Pancy O S, Pang Chi Pui, Tham Clement C, Yam Jason C, Chen Li Jia

机构信息

Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.

Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.

出版信息

Br J Ophthalmol. 2025 Mar 20;109(4):456-462. doi: 10.1136/bjo-2024-325935.

DOI:10.1136/bjo-2024-325935

PMID:39406463

Abstract

PURPOSE

To evaluate the associations of single-nucleotide polymorphisms (SNPs) in the ( gene with myopia.

METHODS

25 SNPs in were selected, including 23 haplotype-tagging SNPs, SNP rs2142308 from a previous genome-wide association study (GWAS) of myopia and rs11200638, a SNP strongly associated with age-related macular degeneration (AMD). All SNPs were genotyped in a Hong Kong Chinese cohort of 533 myopia subjects (including 175 high myopia, 189 moderate myopia and 189 mild myopia) and 280 non-myopic controls. The association of individual SNPs were evaluated in overall myopia and different subgroups of myopia using logistic regression.

RESULTS

A tagging SNP, rs11200647, was significantly associated with myopia (p=2.17×10, OR=0.67). Nominal associations were detected for the AMD-associated SNP rs11200638 (p=0.0042, OR=1.37) and tagging SNPs rs12266322 (p=0.0048, OR=0.59) and rs17103569 (p=0.047, OR=1.34). The association of rs11200647 with myopia remained significant after adjusting for rs11200638, rs12266322 and rs17103569. In sub-group analysis, two tagging SNPs, rs11200647 (p=2.24×10, OR=0.58) and rs12266322 (p=8.31×10, OR=0.39), showed significant association with moderate myopia. In haplotype association analysis, haplotypes AT (p=1.00×10, OR=1.77) and haplotype GT (p=0.0019, OR=0.64), defined by rs11200647 and rs66884382, were significantly associated with myopia.

CONCLUSIONS

This study provided new evidence to support as an associated gene for myopia, especially moderate myopia. The findings suggested that myopia and AMD may have shared genetic components.

摘要

目的

评估（基因中的单核苷酸多态性（SNP）与近视的关联。

方法

选取了该基因中的25个SNP，包括23个标签单倍型SNP、来自先前近视全基因组关联研究（GWAS）的SNP rs2142308以及与年龄相关性黄斑变性（AMD）密切相关的SNP rs11200638。对香港一个由533名近视受试者（包括175名高度近视、189名中度近视和189名轻度近视）及280名非近视对照组成的队列进行了所有SNP的基因分型。使用逻辑回归评估单个SNP在总体近视及近视不同亚组中的关联。

结果

一个标签SNP rs11200647与近视显著相关（p = 2.17×10，比值比[OR]=0.67）。检测到AMD相关SNP rs11200638（p = 0.0042，OR = 1.37）以及标签SNP rs12266322（p = 0.0048，OR = 0.59）和rs17103569（p = 0.047，OR = 1.34）存在名义上的关联。在对rs11200638、rs12266322和rs17103569进行校正后，rs11200647与近视的关联仍然显著。在亚组分析中，两个标签SNP，rs11200647（p = 2.24×10，OR = 0.58）和rs12266322（p = 8.31×10，OR = 0.39），与中度近视显著相关。在单倍型关联分析中，由rs11200647和rs66884382定义的单倍型AT（p = 1.00×10，OR = 1.77）和单倍型GT（p = 0.0019，OR = 0.64）与近视显著相关。