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在来自俄罗斯中部的白种人群体中，剥脱性青光眼的候选基因多态性也与原发性开角型青光眼的风险相关。

gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia.

机构信息

Department of Medical Biological Disciplines, Belgorod State University, Belgorod, Russia.

Department of Life Sciences, College of Science and General Studies, Alfaisal University, Riyadh, Saudi Arabia.

出版信息

Mol Vis. 2021 May 8;27:262-269. eCollection 2021.

PMID:34012228
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8116259/
Abstract

PURPOSE

This study was aimed to replicate the previously reported associations of the three gene polymorphisms with exfoliation glaucoma (XFG) and to analyze these genetic variants for their possible contribution to primary open-angle glaucoma (POAG) in Caucasians from central Russia.

METHODS

In total, 932 participants were recruited for the study, including 328 patients with XFG, 208 patients with POAG, and 396 controls. The participants were of Russian ethnicity (self-reported) and born in Central Russia. They were genotyped at three single nucleotide polymorphisms (SNPs) of the gene (rs2165241, rs4886776, and rs893818). The association was analyzed using logistic regression.

RESULTS

Allele C of rs2165241 was associated with a decreased risk of XFG (odds ratio [OR] =0.27-0.45, p ≤5*10) and POAG (OR=0.35-0.47, р≤0.001), and allele A of rs4886776 and rs893818 were associated with a lower risk of XFG (OR=0.53-0.57, р≤0.001). Haplotype TGG of loci rs2165241-rs4886776-rs893818 was associated with an elevated risk of XFG (OR=2.23, р=0.001) and POAG (OR=2.01, р=0.001), haplotype CGG was also associated with a decreased risk of XFG (OR=0.45, р=0.001) and POAG (OR=0.35, р=0.001). Haplotype CAA was associated with a decreased risk of XFG only (OR=0.50, р=0.001).

CONCLUSIONS

Polymorphisms rs2165241, rs4886776, and rs893818 of the gene showed association with XFG and POAG in a Caucasian sample from central Russia.

摘要

目的

本研究旨在复制先前报道的三个基因多态性与剥脱性青光眼（XFG）的关联，并分析这些遗传变异在俄罗斯中部白种人原发性开角型青光眼（POAG）中的可能作用。

方法

共纳入 932 名研究对象，包括 328 名 XFG 患者、208 名 POAG 患者和 396 名对照组。参与者为俄罗斯裔（自述），出生于俄罗斯中部。他们在基因（rs2165241、rs4886776 和 rs893818）的三个单核苷酸多态性（SNP）上进行了基因分型。采用逻辑回归分析关联性。

结果

rs2165241 的等位基因 C 与 XFG（比值比 [OR] =0.27-0.45，p ≤5*10）和 POAG（OR=0.35-0.47，р≤0.001）的风险降低相关，rs4886776 和 rs893818 的等位基因 A 与 XFG（OR=0.53-0.57，р≤0.001）的风险降低相关。rs2165241-rs4886776-rs893818 基因座的 TGG 单倍型与 XFG（OR=2.23，p=0.001）和 POAG（OR=2.01，p=0.001）的风险升高相关，CGG 单倍型也与 XFG（OR=0.45，p=0.001）和 POAG（OR=0.35，p=0.001）的风险降低相关。CAA 单倍型仅与 XFG 风险降低相关（OR=0.50，p=0.001）。

结论

基因的 rs2165241、rs4886776 和 rs893818 多态性与俄罗斯中部白种人 XFG 和 POAG 相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c05/8116259/5a48fc966962/mv-v27-262-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c05/8116259/5a48fc966962/mv-v27-262-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c05/8116259/5a48fc966962/mv-v27-262-f1.jpg

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