eNOS基因和FⅦ基因多态性与冠心病的相关性研究

目的 探讨内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因外显子7的Glu298Asp和凝血因子Ⅶ(coagulation factor VH,FVH)基因外显子8的Arg353Gin多态性与汉族人群冠心病(CHD)及老年人CHD发病的关系.方法 选取147例CHD患者和116例正常对照组人群,应用聚合酶链反瘟-限制性片段长度多态性(PCR-RFLP)分析技术检测eNOS基因Glu298Asp和FⅦ基因Arg353G1n多态性.结果 ①eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率CHD组分别为78.9%、20.4%、0.68%和对照组分别为89.7%、10.3%和0.0%;FⅦ基因型频率CHD组和对照组之间差异无统计学意义(P＞0.05);②Glu/Asp+Asp/Asp型和Asp等位基因频率CHD组(21.1%和10.9%)显著高于对照组(10.3%和5.2%)(P＜0.05),Asp等位基因对≥60岁老年人发生CHD的风险增高,OR=2.43,95%CI:1.22～4.86(P＜0.05);③携带FⅦ基因Arg/Gln+Gln/Gln型和Gin等位基因个体发生CHD的风险降低,OR=0.77,95%CI:0.33～0.56和OR=0.85,95%CI:0.38～0.53(P＞0.05).结论 eNOS基因Asp等位基因可能是汉族老年人CHD发病的遗传易感因素之一;FⅦ基因Arg353Gln多态性与CHD发病无关.

Association of Genetic Polymorphisms in eNOS Gene and FⅦGene with Coronary Atherosclerotic Heart Disease in Chinese People

Objective To investigated the association of polymorphisms in the exon 7 of the endothelial nitric oxide svnthase(eNOS)gene and the gene exon 8 of the coagulation factor Ⅶ(FⅦ)with coronary athemsclerotic heart disease(CHD).Methods For 147 patients with CHD and 116 unrelated health individuals,the Glu298Asp polvnorphism at exon 7 of the endothelial nitric oxide synthase gene and the Arg353Gln polymorphism of the FVH gene were studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)analysis.Results ①In CHD patients the frequencies of the Gln/Glu,Glu/Asp,or Asp/Asp genotvpe of the eNOS gene were 78.9%,20.4%,or 0.68%,respectively,and in controls the genotype frequencies were 89.7%,10.3%,or 0.0%,respectively.The genotype and allele frequencies of FⅦ gene did not differ between CHD patients and controls.②Both the Glu/Asp+Asp/Asp genotype and Asp allele of eNOS occurred more frequently in CHD group(21.1%and 10.9%)than in normal controls(10.3% and 5.2%)(P＜0.05).In ≥60 years old group the Asp allele was significantly associated with CHD(OR= 2.43.95%CI:1.22～4.86)(P＜0.05);③Carriers of the Arg/Gin+Gin/Gin genotype and Gin allele(exon 8 polymorphism)were at a slightly lower frequencies among patients 8.2%vs10.3%and 4.4%vs 5.2%,respectivelv(OR=0.77,95%CI:0.33～0.56;OR=0.85,95%CI:0.38～0.53)(P＜0.05).Conclusion The above findings suggest that Glu298Asp polymorphism of eNOS gene is likely to be one of the risk factors for CHD patient at≥60 years old.No association between Arg353Gln polymorphism of the FⅦ gene and CHD was observed in our population.