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.
Ophthalmic Genet. 2021 Dec;42(6):698-705. doi: 10.1080/13816810.2021.1955275. Epub 2021 Aug 13.
To replicate the finding of the association of five gene polymorphisms (rs7865618, rs1063192, rs944800, rs2157719, and rs4977756) with primary open-angle glaucoma (POAG) and to analyze them for possible association with pseudoexfoliation glaucoma (PXFG) in a Caucasian population of Central Russia.
A total of 932 participants of Russian ethnicity (self-reported), including 328 patients with PXFG, 208 patients with POAG (high-tension glaucoma), and 396 controls, were enrolled in the study. The SNPs were analyzed for possible associations using logistic regression.
Several haplotypes based on the studied SNPs were associated with POAG (three haplotypes) and PXFG (six haplotypes). Haplotype AAAGG of loci rs1063192-rs7865618-rs2157719-rs944800-rs4977756 conferred the highest risk for both POAG (OR = 3.99, р = 0.001) and PXFG (OR = 2.84, р = 0.001).
The gene was associated with an increased risk of both POAG and PXFG in Caucasians of Central Russia. The gene may be related to the development of various types of glaucoma.
复制五个基因多态性（rs7865618、rs1063192、rs944800、rs2157719 和 rs4977756）与原发性开角型青光眼（POAG）关联的发现，并分析它们与俄罗斯中部白种人群中假剥脱性青光眼（PXFG）的可能关联。
共纳入 932 名俄罗斯裔参与者（自述），包括 328 名 PXFG 患者、208 名 POAG（高眼压性青光眼）患者和 396 名对照者。使用逻辑回归分析 SNP 与可能的关联。
基于所研究的 SNP 的几种单倍型与 POAG（三种单倍型）和 PXFG（六种单倍型）相关。位于 rs1063192-rs7865618-rs2157719-rs944800-rs4977756 位点的 AAGGG 单倍型为 POAG（OR=3.99，p=0.001）和 PXFG（OR=2.84，p=0.001）的风险最高。
该基因与俄罗斯中部白种人群中 POAG 和 PXFG 的发病风险增加相关。该基因可能与各种类型青光眼的发生有关。
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