一氧化氮合酶基因G894T变异与高血压病关系的研究  

Effects of G894T mutation in the endothelial nitric oxide synthase gene on blood pressure

作　　者：贾崇奇[1] 赵仲堂[1] 王立华 郝风荣[1] 冯月秋[1] 王束玫[1] 徐晓菲[1] 贾存显[1] 

机构地区：[1]山东大学公共卫生学院流行病学教研室,济南250012 [2]济南钢铁厂职工总医院二区分院

出　　处：《中华流行病学杂志》2003年第1期36-39,共4页Chinese Journal of Epidemiology

摘　　要：目的　探讨内皮型一氧化氮合酶 (eNOS)基因第 7外显子G894T变异 (Glu2 98Asp)与高血压病的关系。方法　以人群中筛检出的、未经药物治疗的 116例高血压病患者及 13 6名血压正常者为研究对象 ,运用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)检测G894T变异。结果G894T变异与高血压病显著相关 ,894T等位基因频率高血压病组显著高于血压正常组 ( 16.0 %∶8.8% ,P =0 .0 19) ,OR =1.96,95 %CI:1.14～ 3 .3 7。在病例组、对照组及两组合计中 ,G894T变异基因型的收缩压及舒张压水平皆显著升高 (P <0 .0 5 )。用多元协方差分析调整年龄、性别、吸烟、饮酒、体重指数、甘油三酯、总胆固醇、高密度脂蛋白胆固醇后 ,在病例与对照合计中 ,G894T变异基因型对收缩压及舒张压水平仍具有正显著影响 (P <0 .0 1)。结论　eNOS基因第Objective To analyze the association between G894T (Glu298Asp) mutation at exon 7 in the endothelial nitric oxide synthase gene and essential hypertension. Methods One hundred and sixteen essential hypertensives without taking hypertensive medication and 136 normotensives screened from health workers in a steel factory were selected as subjects in this study. Polymerase chain reaction (PCR) and Ban Ⅱ restriction enzyme digestion were performed to detect the G894T mutation. Results G894T mutation was significantly associated with essential hypertension. The T allele frequency in essential hypertensive group was significantly higher than that in normotensive group ( 16.0% versus 8.8%, P= 0.019, OR= 1.96,95%CI: 1.14- 3.37). The levels of systolic blood pressure and diastolic blood pressure in the G894T mutant genotypes were all significantly elevated in hypertensive, normotensive, and the total subjects ( P< 0.05). After adjusting factors as age, sex, smoking, alcohol drinking, body mass index, triglyceride, serum total cholesterol, serum high density lipoprotein cholesterol by analysis of multiple covariance, significant positive effect of the G894T mutant genotypes on blood pressure in the total subjects ( P< 0.01) was noticed. Conclusion This study suggested that the G894Tmutation in the endothelial nitric oxide synthase gene might serve as a major risk factor of essential hypertension in this study population.

关 键 词：G894T变异 一氧化氮合酶 高血压 基因多态性 遗传学 

分 类 号：R544.1[医药卫生—心血管疾病]