The association of ARR3 genetic polymorphisms with pathologic myopia in Northern Chinese population.

IF 2.7 2区医学 Q1 OPHTHALMOLOGY

Experimental eye research Pub Date : 2025-10-09 DOI:10.1016/j.exer.2025.110691

Wenna Gao, Min Zhang, Guangqi An, Fan Yang, Lin Li, Xuemin Jin, Liping Du

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引用次数: 0

Abstract

Purpose: The study is conducted to illustrate the relationship between the single nucleotide polymorphisms (SNPs) of ARR3 and pathologic myopia (PM) among the general public residing in Northern China.

Methods: PM patients and the emmetropic controls were recruited in Northern China. The venous blood samples of subjects were collected, following which DNA were extracted. Seven SNPs of the ARR3 gene, including rs10449043, rs11094147, rs1572732, rs1768567, rs3818861, rs4844220, and rs5936872, were genotyped by the iPLEX Gold Genotyping Assay. The SHEsis platform was employed to evaluate linkage disequilibrium and haplotype blocks, and the SPSS software was used to assess correlations.

Results: There were 575 PM patients and 742 age-matched controls being enrolled in the study. No statistical significance was identified on the relationship between ARR3 SNPs and PM. Results of subgroup analyses based on the degree of chorioretinal atrophy indicated that compared with the heterozygote TC in rs1768567, the homozygotes TT and CC significantly protected the aggravation of female PM from the tessellated fundus to the diffuse chorioretinal atrophy. Although there existed the strong linkage disequilibrium among tested SNPs, 4 major haplotypes of them were not related to the onset and severity of PM.

Conclusions: The study has emphasized the significance of ARR3 SNPs in the progression of chorioretinal atrophy in female PM.

Trial registration: The study was retrospectively registered in the clinicaltrials.gov (identifier: NCT06204211).

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ARR3基因多态性与中国北方人群病理性近视的关系

目的：研究中国北方地区普通人群ARR3基因单核苷酸多态性（snp）与病理性近视（PM）的关系。方法：在中国北方招募PM患者和非斜视性对照。采集受试者静脉血样本，提取DNA。采用iPLEX金基因分型法对ARR3基因的7个snp进行分型，包括rs10449043、rs11094147、rs1572732、rs1768567、rs3818861、rs4844220和rss5936872。利用SHEsis平台评估连锁不平衡和单倍型块，用SPSS软件评估相关性。结果：575名PM患者和742名年龄匹配的对照组被纳入研究。ARR3 snp与PM之间的关系无统计学意义。基于绒毛膜视网膜萎缩程度的亚组分析结果显示，与rs1768567的杂合子TC相比，纯合子TT和CC显著保护了女性PM从眼底块化到弥漫性绒毛膜视网膜萎缩的加重。虽然检测的snp之间存在较强的连锁不平衡，但其中4个主要单倍型与PM的发病和严重程度无关。结论：本研究强调了ARR3 snp在女性PM的绒毛膜视网膜萎缩进展中的意义。试验注册：该研究已在clinicaltrials.gov（识别码：NCT06204211）上回顾性注册。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Experimental eye research 医学-眼科学

CiteScore

6.80

自引率

5.90%

发文量

323

审稿时长

66 days

期刊介绍： The primary goal of Experimental Eye Research is to publish original research papers on all aspects of experimental biology of the eye and ocular tissues that seek to define the mechanisms of normal function and/or disease. Studies of ocular tissues that encompass the disciplines of cell biology, developmental biology, genetics, molecular biology, physiology, biochemistry, biophysics, immunology or microbiology are most welcomed. Manuscripts that are purely clinical or in a surgical area of ophthalmology are not appropriate for submission to Experimental Eye Research and if received will be returned without review.