新疆哈萨克族内皮型一氧化氮合酶基因rs7830和rs3918188多态性与原发性高血压的相关性

目的:探讨新疆哈萨克族内皮型一氧化氮合酶(eNOS)基因rs7830和rs3918188位点多态性与原发性高血压(EH)的相关性。方法:采用流行病学的病例-对照研究方法,用经典的酚-氯仿法进行DNA抽取、PCR及纯化,用SNaPshot分型技术对新疆哈萨克族363名EH患者(EH组)和370名正常血压者(NT组)进行eNOS基因rs7830和rs3918188分型,并采用生化技术测定空腹血糖、尿酸、胆固醇、甘油三酯等10项血浆指标,测定体重指数、腰臀比等指标。结果:(1)年龄(P<0.01)、体重指数(P<0.01)、甘油三酯(P<0.01)、低密度脂蛋白(P<0.05)和载脂蛋白A1/B(P<0.05)是新疆哈萨克族EH发生的影响因素;(2)新疆哈萨克族eNOS基因rs7830和rs3918188位点的基因型和等位基因频率在2组分布均无差异(P>0.05);(3)新疆哈萨克族eNOS基因rs7830和rs3918188位点所构建的CA、CC、AC和AA 4种单倍型频率在2组中分布均无差异(P>0.05)。结论:(1)年龄、体重指数和甘油三酯是新疆哈萨克族EH发生的危险因素,而低密度脂蛋白和载脂蛋白A1/B是新疆哈萨克族EH发生的保护因素;(2)新疆哈萨克族eNOS基因rs3918188和rs7830位点多态性与EH的发生均不相关。

Association of endothelial nitric oxide synthase gene rs7830 and rs3918188 polymorphisms with essential hypertension in Kazakh of Xinjiang region

AIM: To investigate the correlation between endothelial nitric oxide synthase (eNOS) rs7830 and rs3918188 locus polymorphisms and essential hypertension (EH) in the Kazakh of Xinjiang region. METHODS: Epidemiological case-control study was conducted. DNA was extracted by classic phenol-chloroform method, PCR amplification and purification. The rs7830 and rs3918188 of eNOS gene in 363 EH patients (EH group) and 370 normotensive controls (NT group) in the Kazakh of Xinjiang region were genotyped by the technique of SNaPshot single nucleotide polymorphism genotyping. The plasma levels of fasting blood glucose, uric acid, cholesterol and triglyceride were measured by biochemical methods. Determination of body mass index and waist-hip ratio was also conducted. RESULTS: Age (P<0.01), body mass index (P<0.01), triglyceride (P<0.01), low-density lipoprotein (P<0.05) and apolipoprotein A1/B (P<0.05) were the independent factors for EH in the Kazakh of Xinjiang region. No difference of eNOS gene rs7830 and rs3918188 loci in the genotype frequency and the allele frequency distribution between EH patients and normotensive controls in the Kazakh of Xinjiang region was observed (P>0.05). The frequency distribution of CA, CC, AC and AA haplotypes from eNOS gene rs7830 and rs3918188 loci between EH group and NT group also had no difference in the Kazakh of Xinjiang region (P>0.05). CONCLUSION: Age, body mass index and triglyceride are the independent risk factors, while low-density lipoprotein and apolipoprotein A1/B are the independent protective factors for EH in the Kazakh of Xinjiang region. The polymorphisms of eNOS gene rs3918188 and rs7830 loci are not related to EH in the Kazakh of Xinjiang region.