内皮型一氧化氮合酶基因多态性与冠心病的关联研究

目的对内皮型一氧化氮合酶(eNOS)基因-786T/C、4a4b、894G/T等3个多态性位点与中国汉族人群冠心病(CAD)发病的相关性进行联合研究。方法 148例中国汉族CAD患者和115例正常对照进行以下遗传学分析:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和PCR技术分析2个单核苷酸多态性(SNP)位点即-786T/C和894G/T,以及1个可变串联重复序列(VNTR)位点4a4b,检测各位点基因型和等位基因频率,采用HaploView4.0及SPSS13.0软件经χ2检验比较两组间各位点基因型及等位基因频率的差异。结果 CAD组中eNOS基因-786T/C位点CC基因型频率以及4a4b位点4a/4a基因型频率明显高于对照组,差异有统计学意义(P<0.05)。CAD组和对照组在eNOS基因的894G/T位点等位基因和基因型频率分布均无统计学意义(P>0.05)。结论 eNOS基因-786T/C和4a4b多态性与中国汉族人群CAD存在关联,C等位基因和4a等位基因可能是CAD发病的危险因素。eNOS基因894G/T位点与CAD可能无关联。

Association analysis of eNOS gene polymorphisms and coronary artery disease

Objective To investigate the relationship between the 3 polymorphisms （-786T/C,4a4b,894G/T） in endothelial nitric oxide synthase （eNOS） gene and coronary artery disease （CAD）.Methods 148 patients with CAD and 115 healthy unrelated individuals in a Chinese Han population were involved.The genotype and allele frequencies of each polymorphisms of the eNOS gene in these patients and normal controls were examined with polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLP） or PCR methods.Genotypes and allele frequencies were analyzed by HaploView 4.0 and SPSS 13.0 software.Results There were significant differences in both allele and genotype frequencies of-786T/C and 4a4b between the study and control group.The frequencies of CC genotype of the-786T/C and 4a/4a genotype of the 4a4b in eNOS gene were significantly higher in CAD than that in controls （P0.05）.Between patients with CAD and controls,there were no significant differences in the frequencies of the genotypes and alleles of the 894G/T in eNOS gene.Conclusions The-786T/C and 4a4b polymorphisms of eNOS gene may be associated with CAD.The individuals with C allele of-786T/C and 4a allele of 4a4b are susceptible to CAD.Between CAD and normal controls,there is no significant association in the and 894G/T polymorphism in eNOS gene.