内皮固有型一氧化氮合酶基因4b/a多态性与2型糖尿病并发冠心病的关联性研究

The relationship between polymorphism of intron 4 (4b/a) of the endothelial constitutive nitric oxide synthase gene and type 2 diabetes mellituscomplicated with coronary heart disease

目的本研究探讨内皮固有型一氧化氮合酶(ecNOS)基因第4内含子27bp可变数目串联重复序列(VNTR)插入/缺失多态性(4b/a)与2型糖尿病(T2DM)并发冠心病的关联性。方法观察80例2型糖尿病、92例T2DM合并冠心病患者及119例正常对照组人群,提取基因组DNA并应用PCR技术检测ecNOS基因内含子4VNTR多态性。结果ecNOS基因4b/a多态性与T2DM及T2DM并发冠心病无关。发现1例4a/a纯合子基因型者,位于T2DM并发冠心病组。结论缺失型等位基因4a可能处于非统治地位,是否与T2DM并发冠心病有关仍待更大样本的观察。

Objective To investigate the relationship between polymorphism of intron 4 （4b/a） of the end othelial constitutive nitric oxide synthase（ecNOS） gene and type 2 diabetes mellitus（DM） complicated with coronary hear tdisease. Methods 80 patients with type 2 DM （Group DM）, 90 patients with type 2 DM complicated with coronary heart disease（ Group DH） ）and 119 healthy subjects （ Control group） were observed in this study. Genome DNA was extracted from anticoagulant blood. The polymorphism 4b/a was determined by polymerase chain reaction （PCR） .Results The polymorphism of intron 4 （4b/a） of ecNOS genome was not correlated with type 2 DM or type 2 DM complicated with coronary heart disease. There was only one homozygote 4a/a patient in group DH. Conclusion The allele 4a might be in non-dominant position, and whether which is related with type 2 DM complicated with coronary heart disease need to beobserved in more specimens further.