内皮一氧化氮合酶基因G894T多态性与动脉瘤性蛛网膜下腔出血的相关性研究

目的 研究eNOS基因第7外显子G894T多态性与动脉瘤性蛛网膜下腔出血(aSAH)的相关性.方法 利用聚合酶链反应(PCR)、琼脂糖凝胶电泳验证PCR反应产物,限制性片段长度多态性(RFLP)分析比较aSAH患者和对照者eNOS基因型的构成及等位基因频率的分布.结果 aSAH患者组的GT+TT基因型和T等位基因频率显著高于对照组,差异具有统计学意义.基因型分布在破裂的颅内动脉瘤直径大小之间差异无统计学意义,但是与aSAH患者预后相关.结论 eNOS基因G894T多态性可能是asAH发病的危险因子之一,GT+TT基因型与不良预后密切相关.

The relationship between G894T polymorphism of endothelial nitric oxide synthase gene and spontaneous aneurismal subarachnoid hemorrhage

Objective To investigated a possible association between aneurysmal SAH and G894T (Clu298Asp) polymorphism in exon 7 of the endothelial nitric oxide synthase gene. Method To compare the allele gene and genotype frequency of polymorphism in exon 7 of the endothelial nitric oxide synthase gene G894T in 58 patients with aneurysmal subarachnoid hemorrhage ( aSAH group) and 67 healthy volunteers (control group) by means of polymerase chain reaction ( PCR), agarose gel electrophoresis and direct sequencing. Results There kinds of genetypes and two kinds of alleles were detected in this test eNOS GT + TT genotype and T allele were significantly more common in the patient group compared to the control group. No significant differences in the distributions of the eNOS G894T genotypes were found with regard to the sizes of ruptured aneurysms. Conclusions Polymorphism in exon 7 of the endothelial nitric oxide synthase gene G894T seems to be a possible risk factor for the onset of aneurismal subarachnoid hemorrhage. No significant relationship in the polymorphism in exon 7 of the eNOS gene were found with regard to the sizes of aneurysms. Multiple logistic regression analysis showed the eNOS GT + TT genotype was independently associated with an unfavorable outcome(GOS grade Ⅲ～Ⅴ) of aSAH.