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和与中国沈阳原发性开角型青光眼患者相关的单核苷酸多态性。

Single-nucleotide polymorphisms of and linked to primary open-angle glaucoma among patients of Shenyang, China.

机构信息

Department of Ophthalmology, The Fourth People's Hospital of Shenyang, Shenyang 110031, P.R. China.

Department of Laboratory Animal Science, China Medical University, Shenyang, Liaoning 110122, P.R. China.

出版信息

Exp Biol Med (Maywood). 2023 Dec;248(23):2319-2324. doi: 10.1177/15353702231214254. Epub 2024 Jan 19.

Abstract

The potential for adverse outcomes and classifications of glaucoma differ among race, country, gender, and family medical history. Nearly, 50 represent candidate genes are considered as potential contributors to the happening for the primary open-angle glaucoma (POAG) since the advent of GWASs. Our investigation is the first to report the Toll-like receptor 4 () and growth arrest-specific 7 () among people in Shenyang, China; to investigate whether single-nucleotide polymorphisms (SNPs) in () or gene are risk factors for POAG among people in Shenyang, China; and also to explore their potential pathogenic mechanisms. POAG patients from July 2015 to June 2019 at Shenyang Fourth People's Hospital were selected. A total of 218 POAG patients and 252 controls were enrolled. Eight potentially functional SNPs of (rs7868859, rs7873784, rs77358523, and rs752998) and (rs8012311, rs11656696, rs74629981, and rs9900085) were genotyped. Multifactor analysis was conducted to evaluate the correlation between , , and POAG. The allele frequency of rs7873784 of demonstrated that the GC ( = 0.030), CC ( = 0.040), and GC + CC genotypes ( = 0.009) were significantly higher compared with CC genotype for POAG patients than that for controls. The rs8072311 and rs9900085 of gene also were significantly associated with POAG. Haplotype analysis found that the C-A-T-A haplotype (order: rs7873784-rs77358523-rs752998-rs7868859) of gene and the two haplotypes A-C-C-A and C-C-A-C of (order: rs9900085-rs74629981-rs8072311-rs11656696) were associated with an elevated susceptibility to POAG ( < 0.05). In this study, rs7868859 of and rs8012311 and rs9900085 polymorphisms of were first identified to be related to POAG among people in Shenyang, China.

摘要

青光眼的不良结局和分类因种族、国家、性别和家族病史而异。自全基因组关联研究(GWAS)问世以来,近 50 个候选基因被认为是原发性开角型青光眼(POAG)发生的潜在贡献者。我们的研究首次报道了 Toll 样受体 4()和生长停滞特异性 7()在中国沈阳人群中的存在;探讨了中国沈阳人群中是否存在基因中的单核苷酸多态性(SNPs)或 基因是 POAG 的危险因素;并探讨了它们的潜在致病机制。本研究从 2015 年 7 月至 2019 年 6 月在沈阳第四人民医院选择 POAG 患者。共纳入 218 例 POAG 患者和 252 例对照。对 8 个潜在功能的 SNPs(rs7868859、rs7873784、rs77358523 和 rs752998)和 (rs8012311、rs11656696、rs74629981 和 rs9900085)进行了基因分型。采用多因素分析评估与 POAG 之间的相关性。基因 rs7873784 的等位基因频率表明,与 CC 基因型相比,GC(=0.030)、CC(=0.040)和 GC+CC 基因型(=0.009)在 POAG 患者中明显更高。基因 rs8072311 和 rs9900085 也与 POAG 显著相关。单倍型分析发现,基因的 C-A-T-A 单倍型(顺序:rs7873784-rs77358523-rs752998-rs7868859)和 (顺序:rs9900085-rs74629981-rs8072311-rs11656696)的两个单倍型 A-C-C-A 和 C-C-A-C 与 POAG 的易感性升高有关(<0.05)。在这项研究中,首次确定了中国沈阳人群中基因的 rs7868859 和 rs8012311 以及基因的 rs9900085 多态性与 POAG 有关。

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