内皮型一氧化氮合酶基因G894T突变与中国人冠状动脉粥样硬化性心脏病的相关研究

目的 探讨内皮型一氧化氮合酶（endothelial nitric oxide synthase,e NOS）基因第7外显子G894T点突变与中国人冠状动脉粥样硬化性心脏病（简称冠心病）发病之间的关系。方法 应用聚合酶链反应技术，限制性内切酶分析和病例－对照方法，检测了108名中国汉族正常人，106例冠心病患者的eNOS基因G894T点突变频率。比较各组间的基因型频率与等位基因频率。结果 （1）中国汉族正常人eNOS基因G894T突变GG，GT，TT基因型频率分布为0.9095,0.0883和0.0021;G,T等位基因频率分别为0．9537和0．0463。（2）冠心病及其心肌梗塞亚组eNOS基因GT＋TT型频率分别为0．2219和0．2387，与GG型相比，均显著高于正常人（P＜0．05；冠心病组及心肌梗塞亚组T等位基因频率分别为0．1179和0．1275，均极显著高于正常人（P＜0．01。（3）冠状动脉造影确诊的冠心病患者eNOS基因G894T突变频率在单支，双支和多支病变组之间差异均无显著性（P＞0．05）。结论 eNOS基因G894T突变可能是中国人冠心病遗传易感性的基因标志之一。

The G894T mutation of the endothelial nitric oxide synthase gene is associated with coronary atherosclerotic heart disease in Chinese

Objective To investigate the association of the endothelial nitric oxide synthase (eNOS) gene polymorphism with coronary atherosclerotic heart disease (CHD) in Chinese Han nationality. Methods For 106 patients with CHD and 108 unrelated health individuals, the G894T mutation at exon 7 of the endothelial nitric oxide synthase gene was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.Results (1) Among the normal subjects of Chinese Han nationality, the frequencies of the eNOS/GG, GT and TT genotypes were 0 9095, 0.0883 and 0.0021, respectively. The G and T allele frequencies were 0.9537 and 0.0463. (2) The authors assumed the effects of the T allele to be dominant (GT and TT combined vs GG). The GT+TT genotype frequencies in CHD and myocardial infarction (MI) subgroup were 0.2219 and 0.2387, respectively. The frequencies of eNOS/GT+TT genotypes in CHD patients, as well as MI subgroup were significantly higher than that of the normal subjects ( P <0.05), respectively. The frequencies of T allele in CHD, MI subgroup were significantly higher than that in the normal subjects ( P <0 01), respectively. (3) This mutation was not related to the number of affected vessels in the 58 patients who had angiographically documented artery narrowing ( P >0 05). Conclusion The G894T mutation of the endothelial nitric oxide synthase gene may be a marker for genetical predisposition of CHD in Chinese Han population.