Giannopoulos Sotirios, Markoula Sofia, Asproudis Ioannis, Galidi Anna, Nikas Alexios, Kyritsis Athanassios P, Georgiou Ioannis
Department of Neurology, University of Ioannina School of Medicine, Ioannina, Greece.
Vis Neurosci. 2010 Nov;27(5-6):183-5. doi: 10.1017/S0952523810000350. Epub 2010 Nov 15.
Nonarteritic anterior ischemic optic neuropathy (NAION) is associated with vascular risk factors and a genetic predisposition for NAION. In this study, we examined the potential association of endothelial nitric oxide synthase (eNOS) G894T polymorphism with NAION. For this, 45 patients (29 men and 16 women) and 193 controls (122 men and 71 women) were enrolled prospectively and genotyped for eNOS genes. Genotypes were determined by polymerase chain reaction and restriction enzyme analysis. The prevalence of eNOS polymorphisms was estimated in NAION patients and controls. Genotype frequencies were estimated with chi-square test, and odds ratios were calculated. We found that eNOS G894T polymorphism is not associated with NAION occurrence as the genotype and allele frequencies were not significantly different between the control and patient groups (TT vs. GG + GT: P = 0.646 and T vs. G: P = 0.86). The precise mechanism of NAION occurrence has not been elucidated yet; since NAION may occur when a compromised watershed microcirculation is combined with insufficient autoregulation of systematic circulation, other alterations in the eNOS gene or polymorphism of genes involved in systematic circulation may be associated with NAION occurrence.
非动脉炎性前部缺血性视神经病变（NAION）与血管危险因素以及NAION的遗传易感性相关。在本研究中，我们检测了内皮型一氧化氮合酶（eNOS）G894T基因多态性与NAION之间的潜在关联。为此，前瞻性纳入了45例患者（29例男性和16例女性）和193例对照者（122例男性和71例女性），并对eNOS基因进行基因分型。通过聚合酶链反应和限制性酶切分析确定基因型。在NAION患者和对照者中评估eNOS基因多态性的患病率。用卡方检验估计基因型频率，并计算比值比。我们发现eNOS G894T基因多态性与NAION的发生无关，因为对照组和患者组之间的基因型和等位基因频率无显著差异（TT与GG + GT相比：P = 0.646；T与G相比：P = 0.86）。NAION发生的确切机制尚未阐明；由于当受损的分水岭微循环与体循环的自身调节不足相结合时可能发生NAION，eNOS基因的其他改变或参与体循环的基因多态性可能与NAION的发生有关。
