Sakai Tsutomu, Shikishima Keigo, Matsushima Masato, Kitahara Kenji
Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan.
Graefes Arch Clin Exp Ophthalmol. 2007 Feb;245(2):288-92. doi: 10.1007/s00417-005-0245-7.
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).
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.
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).
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.
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。
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。
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）。
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。
