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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 (TLR4) and growth arrest-specific 7 (GAS7) among people in Shenyang, China; to investigate whether single-nucleotide polymorphisms (SNPs) in (TLR4) or GAS7 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 TLR4 (rs7868859, rs7873784, rs77358523, and rs752998) and GAS7 (rs8012311, rs11656696, rs74629981, and rs9900085) were genotyped. Multifactor analysis was conducted to evaluate the correlation between TLR4, GAS7, and POAG. The allele frequency of rs7873784 of TLR4 demonstrated that the GC (P = 0.030), CC (P = 0.040), and GC + CC genotypes (P = 0.009) were significantly higher compared with CC genotype for POAG patients than that for controls. The rs8072311 and rs9900085 of GAS7 gene also were significantly associated with POAG. Haplotype analysis found that the C-A-T-A haplotype (order: rs7873784-rs77358523-rs752998-rs7868859) of TLR4 gene and the two haplotypes A-C-C-A and C-C-A-C of GAS7 (order: rs9900085-rs74629981-rs8072311-rs11656696) were associated with an elevated susceptibility to POAG (P < 0.05). In this study, rs7868859 of TLR4 and rs8012311 and rs9900085 polymorphisms of GAS7 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的可能性因种族而异，国家,性别,和家族病史。几乎，50代表候选基因被认为是自GWAS出现以来原发性开角型青光眼（POAG）发生的潜在贡献者。我们的调查是第一个报道Toll样受体4（TLR4）和生长停滞特异性7（GAS7）在沈阳人群中，中国;调查（TLR4）或GAS7基因中的单核苷酸多态性（SNP）是否是沈阳人群POAG的危险因素，并探讨其潜在的致病机制。选取2015年7月至2019年6月在沈阳市第四人民医院就诊的POAG患者。共纳入218名POAG患者和252名对照。对TLR4的八个潜在功能性SNP(rs7868859、rs7873784、rs77358523和rs752998)和GAS7(rs8012311、rs11656696、rs74629981和rs9900085)进行了基因分型。采用多因素分析评价TLR4、GAS7和POAG的相关性。TLR4的rs7873784等位基因频率表明GC(P=0.030),CC(P=0.040),与CC基因型相比，POAG患者的GCCC基因型（P=0.009）显着高于对照组。GAS7基因的rs8072311和rs9900085也与POAG显著相干。单倍型分析发现，TLR4基因的C-A-T-A单倍型（顺序：rs7873784-rs77358523-rs752998-rs7868859）和GAS7的两个单倍型A-C-C-A和C-C-A-C（顺序：rs9900085-rs7461s981<66srAG）的易感性与P在这项研究中,在沈阳人群中，TLR4的rs7868859和GAS7的rs8012311和rs9900085多态性首次被鉴定为与POAG相关，中国。
