上皮细胞钠通道γ亚单位基因和神经前体细胞表达发育调控样基因多态性性与维吾尔族高血压病的相关分析  

Functional Polymorphisms in Epithelial Na Channel γ Subunit and Neural Precursor Cell Expressed Developmentally Down Regulated 4-like Gene and Essential Hypertension in Uyghur Population

作　　者：连波[1] 刘文娟[2] 陈兴栋[3] 徐玲[1] 王笑峰[1] 金力[1] 

机构地区：[1]复旦大学遗传学研究所,上海市200433 [2]新疆医科大学基础医学院,新疆乌鲁木齐市830000 [3]山东大学公共卫生学院,山东省济南市510632

出　　处：《中国动脉硬化杂志》2008年第5期399-402,共4页Chinese Journal of Arteriosclerosis

基　　金：国家自然科学基金(30500291)

摘　　要：目的探讨上皮细胞钠通道γ亚单位基因启动子区rs5718多态性及神经前体细胞表达发育调控样基因第一外显子rs4149601多态性同维吾尔族高血压病的关系。方法应用病例对照方法研究新疆吐鲁番地区农村高血压病个体344例及对照组322例。检测所有个体体质指数、空腹血糖、胆固醇、甘油三酯。用Taqman技术进行rs5718及rs4149601多态基因分型。结果rs5718多态及rs4149601多态均符合Hardy-Weinberg平衡。rs5718多态GA基因型、AA基因型和A等位基因的频率在高血压组及对照组中分别为34.6%、5.6%、22.9%及36.6%、4.0%、22.4%;rs4149601多态GA基因型、AA基因型和A等位基因的频率在高血压组及对照组分别为28.9%、1.9%、16.4及30.0%、3.3%、18.3%。rs5718与rs4149601多态基因型及等位基因分布在高血压组与对照组中差异均无显著性;对性别、年龄进行校正后也发现两个位点使高血压病患病风险显著改变。进一步协方差分析发现rs5718与rs4149601多态不同基因型间收缩压、舒张压、体重指数、腰臀比、血糖、甘油三酯、胆固醇水平差异无显著性。结论上皮细胞钠通道γ亚单位基因及神经前体细胞表达发育调控样基因两个重要的多态性(rs5718及rs4149601)同维吾尔族人群高血压病发病无关。Aim To investigate the relationship between two functional polymorphisms： rs5718 at epithelial Na channel γsubunit （SCNN1G） gene and rs4149601 at neural precursor cell expressed developmentally down regulated 4-like （DEDD4L） gene and essential hypertension in Uyghur population. Methods A case-control study was performed in 344 hypertensive and 322 control subjects, which were randomly recruited from the rural area of Tulupan district. The body mass index （ BMI ） and waist hip ratio （WHR） was recorded. Fasting plasma glucose, triglyceride, and cholesterol were measured. The two polymor-phisms were genotyped by Taqman technique. Results The essential hypertension and control groups were in Hardy-Wein- berg equilibrium for both polymorphisms. The frequencies ofGA, GG and A allele of rs5718 were 34 . 6%, 5.6% and 22.9% in hypertensives, respectively, which were 36.6 %, 4.0% and 22.4% in controls. The frequencies of GA, GG and A allele of rs4149601 were 28.9%, 1.9% and 14.6% in hypertensives, which were 30.0%, 3.3% and 18.3% in controls, respectively. There were no significant differences of both genotype distribution and allele fiequeneies between hypertensive and control subjects in both polymorphisms, with or without adjusting for eovariates age and gender in a logistic regression analysis. In further ANCOVA analysis, neither polymorphism was significantly associated with systohe blood pressure, diastohe blood pressure, BMI, WHR, glucose, triglyceride, and cholesterol levels. Conclusions Our observation did not support an association of the two functional polymorphisms （rs5718 and rs4149601 ） with essential hypertension in Uyghur population.

关 键 词：流行病学 维吾尔族 高血压病 上皮细胞钠通道7亚单位 神经前体细胞表达发育调控样 基因多态性 

分 类 号：R18[医药卫生—流行病学]