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非动脉炎性前部缺血性视神经病变中内皮型一氧化氮合酶基因多态性

Endothelial nitric oxide synthase gene polymorphisms in non-arteritic anterior ischemic optic neuropathy.

作者信息

Sakai Tsutomu, Shikishima Keigo, Matsushima Masato, Kitahara Kenji

机构信息

Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan.

出版信息

Graefes Arch Clin Exp Ophthalmol. 2007 Feb;245(2):288-92. doi: 10.1007/s00417-005-0245-7.

Abstract

BACKGROUND

To examine the association between the polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and the occurrence of non-arteritic anterior ischemic optic neuropathy (NAION).

METHODS

We studied 15 patients with NAION (mean age, 62 years; 60% male). We investigated two polymorphisms of the eNOS gene, Glu298Asp polymorphism of exon 7 and T(-786)C polymorphism of the promoter region. The genotype distribution in NAION was compared with the control (mean age, 63 years; 63% male) distribution.

RESULTS

There was no significant difference in the genotype distribution of the Glu298Asp polymorphism between the NAION and control groups (P = 1.000), whereas the genotype dis-tribution of the T(-786)C polymorphism varied significantly between the patients with NAION and control subjects (P = 0.002). After adjusting on covariates, individuals with the CC genotype of the T(-786)C polymorphism were more likely to develop NAION compared with those with TT genotype (odds ratio = 0.09: 95% CI 0.01-0.86).

CONCLUSIONS

We found an increased prevalence of T(-786)C polymorphism of the eNOS gene in patients with NAION. Our data suggest that the T(-786)C polymorphism of the eNOS gene may be an important risk factor in the development of NAION in Japanese subjects.

摘要

背景

研究内皮型一氧化氮合酶(eNOS)基因多态性与非动脉炎性前部缺血性视神经病变(NAION)发生之间的关联。

方法

我们研究了15例NAION患者(平均年龄62岁;60%为男性)。我们调查了eNOS基因的两个多态性,即第7外显子的Glu298Asp多态性和启动子区域的T(-786)C多态性。将NAION患者的基因型分布与对照组(平均年龄63岁;63%为男性)的分布进行比较。

结果

NAION组和对照组之间Glu298Asp多态性的基因型分布无显著差异(P = 1.000),而NAION患者与对照受试者之间T(-786)C多态性的基因型分布差异显著(P = 0.002)。在对协变量进行调整后,与TT基因型个体相比,T(-786)C多态性CC基因型个体更易发生NAION(比值比 = 0.09:95%可信区间0.01 - 0.86)。

结论

我们发现NAION患者中eNOS基因T(-786)C多态性的患病率增加。我们的数据表明,eNOS基因的T(-786)C多态性可能是日本受试者发生NAION的一个重要危险因素。

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