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内皮型一氧化氮合酶(eNOS)基因多态性与巴西人群原发性开角型青光眼风险的关联。

Association of polymorphisms of endothelial nitric oxide synthase (eNOS) gene with the risk of primary open angle glaucoma in a Brazilian population.

机构信息

Universidade Estadual de Santa Cruz, Department of Health, Laboratory of Pharmacogenomic and Genetic Epidemiology (LAFEM), Ilhéus, Bahia, 45662-900, Brazil.

出版信息

Gene. 2012 Jul 10;502(2):142-6. doi: 10.1016/j.gene.2012.04.047. Epub 2012 Apr 24.

Abstract

The present study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) gene polymorphisms with primary open angle glaucoma (POAG). We conducted a case-control study that included 90 patients with POAG and 127 healthy controls whose blood samples were genotyped for the functional polymorphisms T-786C and Glu298Asp of the eNOS gene by Taqman fluorescent allelic discrimination assay. The T-786C polymorphism was significantly associated as a risk factor for POAG among women (OR: 2.28; 95% CI: 1.11 to 4.70, p=0.024) and marginally associated to the risk of POAG in the patients ≥52 years of age at diagnosis (OR: 2.11; 95% CI: 0.98 to 4.55, p=0,055). However, these results was not confirmed after adjustments for gender, age, self-declared skin color, tobacco smoking and eNOS genotypes by multivariate logistic regression model (OR: 2.08; 95% CI: 0.87 to 5.01, p=0.101 and OR: 2.20; 95% CI: 0.95 to 5.12, p=0.067, respectively). The haplotype CG of T-786C and Glu298Asp showed a borderline association with risk of POAG in the overall analysis (OR: 1.76; 95% CI: 0.98 to 3.14, p=0.055) and among women (OR: 2.02; 95% CI: 0.98 to 4.16, p=0.052). Furthermore, the CG haplotype was significantly associated with the development of POAG for the age at diagnosis group ≥52 years (OR: 3.48; 95% CI: 1.54 to 7.84, p=0.002).We suggested that haplotypes of the polymorphisms T-786C and Glu298Asp of eNOS may interact with gender and age in modulating the risk of POAG.

摘要

本研究旨在探讨内皮型一氧化氮合酶(eNOS)基因多态性与原发性开角型青光眼(POAG)的关系。我们进行了一项病例对照研究,共纳入 90 例 POAG 患者和 127 例健康对照者,采用 Taqman 荧光等位基因鉴别检测法对 eNOS 基因的 T-786C 和 Glu298Asp 功能多态性进行基因分型。T-786C 多态性与女性 POAG 作为危险因素显著相关(OR:2.28;95%CI:1.11 至 4.70,p=0.024),且与诊断时年龄≥52 岁的 POAG 患者的风险有轻微关联(OR:2.11;95%CI:0.98 至 4.55,p=0.055)。然而,这些结果在经过多变量逻辑回归模型调整性别、年龄、自我报告的肤色、吸烟状况和 eNOS 基因型后并未得到证实(OR:2.08;95%CI:0.87 至 5.01,p=0.101 和 OR:2.20;95%CI:0.95 至 5.12,p=0.067,分别)。T-786C 和 Glu298Asp 的 CG 单倍型在总体分析中与 POAG 风险呈临界关联(OR:1.76;95%CI:0.98 至 3.14,p=0.055),且在女性中与 POAG 风险呈关联(OR:2.02;95%CI:0.98 至 4.16,p=0.052)。此外,CG 单倍型与诊断时年龄≥52 岁的 POAG 发病年龄组显著相关(OR:3.48;95%CI:1.54 至 7.84,p=0.002)。我们认为,eNOS 基因的 T-786C 和 Glu298Asp 多态性的单倍型可能与性别和年龄相互作用,调节 POAG 的风险。

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