内皮型一氧化氮合酶和N5，N10-亚甲基四氢叶酸还原酶基因多态性与苏皖地区汉族人群早发冠心病易感性的相关关系

目的 探讨内皮型一氧化氮合酶(eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与苏皖地区汉族人群早发冠心病(PCAD)发病的关系.方法 采用病例对照研究的方法,应用聚合酶链反应-限制性片长多态性(PCR-RFLP)技术,分别检测131例PCAD患者(PCAD组)和131例年龄、性别相匹配的无冠心病者(对照组)的eNOS和MTHFR基因的单核苷酸多态性,判定其基因型并统计各基因型及等位基因的频率.结果 eNOS基因G894T多态性在PCAD组和对照组中的基因型分布(x2=2.072,P=0.355)和T等位基因频率(x2=0.727,P=0.394)差异均无统计学意义.MTHFR基因C677T基因型在PCAD组CT和TT型分布均高于对照组(x2 =14.290,P=0.001),T等位基因频率亦高于对照组(x2=16.339,P =0.000),差异有显著性(P＜0.05).Logistic回归分析显示,携带MTHFR基因C677TTT基因型是PCAD发病的独立危险因素.结论 eNOS基因G894T多态性可能与苏皖地区汉族人群PCAD发病无关；MTHFR基因677C/T多态性的TT基因型可能增加苏皖地区汉族人群PCAD的患病风险,T等位基因可能是PCAD的遗传易感基因.

Correlation Study on Polymorphisms of the Endodermis Nitricoxide Synthase Gene and N5, N10 Methylene Tetrahydrofolate Reductase Gene in Han Patients with Premature Coronary Artery Disease in the Suwan Region

AimTo investigate a potential association of the gene polymorphisms of endodermis nitricoxide synthase(eNOS) and N5,N10 methylene tetrahydrofolate reductase(MTHFR) gene with premature coronary artery disease(PCAD).MethodsThe polymorphisms of gene eNOS and MTHFR were measured by polymerase chain reaction and restriction fragment length polymorphism analysis(PCR-RFLP) in 131 patients with PCAD(PCAD group)and 131 non-coronary heart disease patients(control group),who were matched in age and sex.ResultsThe frequencies of eNOS G894T gene polymorphism(χ2=2.072,P=0.355) and its T allele(χ2=0.727,P=0.394) in PCAD group were not significantly different from those in control group.The frequencies of MTHFR C677T gene polymorphism T allele were significantly higher in PCAD group than those in control group(χ2=16.339,P=0.000).The frequencies of the three genotypes(CC,CT and TT) were significantly different between the two groups(χ2=14.290,P=0.001).Logistic regression analysis indicated that MTHFR 677C/T TT genotype was an independent risk factor in PCAD(P<0.05).ConclusionThe eNOS G894T polymorphism may have no association with the pathogenesis of PCAD in Han patients of Swnan region;the TT genotype of the MTHFR C677T gene may increase the risk of PCAD.The genetic polymorphism of MTHFR gene promoter is associated with the susceptibility to PCAD in Suwan Han nationality.