探讨内皮型一氧化氮合酶(eNOS)基因27bpVNTR多态性与新疆哈萨克族原发性高血压(EH)的相关性。采用流行病学的病例-对照研究方法,运用多重单碱基延伸分型技术(Multiplex sNaPshot)技术对新疆哈萨克族363名高血压患者(病例组)和370名健康人(对照组)进行eNOS基因27bpVNTR多态性分析,比较基因型、等位基因在病例和对照组中的分布频率与原发性高血压的相关性分析。27bpVNTR基因型bb、aa、ab、bc在对照组和病例组中分布频率分别为78.6%、1.1%、20%、0.3%和78.5%、1.9%、19%、0.6%;等位基因a、b、c分布频率分别为11.1%、88.8%、0.1%和11.4%、88.3%、0.3%;两组eNOS的基因型频率及等位基因差异无统计学意义(P〉0.05)。各指标如年龄、收缩压、舒张压、平均动脉压、脉压、体重指数、腰臀比、空腹血糖、胆固醇、甘油三酯、低密度脂蛋白、肌酐、尿酸、载脂蛋白A1/B的平均水平,两组间比较差异有统计学意义(P〈0.05);高密度脂蛋白、载脂蛋白-A1、载脂蛋白-B两组间均差异无统计学意义(P〉0.05)。eNOS基因27bpVNTR多态性可能与新疆哈萨克族人群EH不相关。
To investigate the association of the polymorphism for the endothelial nitric oxide synthase(eNOS) gene 27 bp varible number of tandem repeats(VNTR) with essential hypertension(EH) in Kazakans in of Xinjiang.Using case-control study,eNOS genotyping wasconducted in 363 EH cases and 370 controls among Kazakans in Xinjiang with Multiplex SNapshot.Genotype frequency and allele frequency were calculated and compared.The frequencies of bb,aa,ab,bc genotypes of eNOS gene were 78.6%,1.1%,20%,0.3% in control group respectively and 78.5%,1.9%,19%,0.6% in case group respectively.The frequencies of a、b、c were 82(11.1%),657(88.8%),1(0.1%) in control group and 83(11.4%)、641(88.3%)、2(0.3%) in case group.The distribution of a、b、c in case group were no significant differences from control group(P〉0.05).There were no significant differences in the frequencies of genotypes and allele(P〉0.05).The polymorphism of eNOS 27 bp VNTR may not be associated with essential hypertension in the Kazakh population of Xinjiang.