【摘要】 目的探讨上皮细胞钠离子通道(ENaC)γ亚单位启动子区G(-173)A多态性与新疆哈萨克族原发性高血压(EH)之间的关系。方法采用Taqman探针技术,对新疆哈萨克族466例原发性高血压患者和259例血压正常者进行SCNN1G基因G(-173)A位点的多态性检测,研究高血压组和对照组间基因型和等位基因的频率分布,并采用多元Logistic回归法分析该基因多态性和其他危险因素对高血压表型的作用。结果GG、GA和AA基因型在EH组中的频率分别为52.8%、41.8%和5.4%,在对照组中为52.5%、41.3%和6.2%;G、A等位基因频率在EH组中分别为73.7%、26.3%,在对照组中分别为73.2%、26.8%;基因型和等位基因频率分布在两组间均没有统计学意义(P>0.05);通过多元Logistic回归法分析校正年龄、性别、肥胖指数、胆固醇、甘油三酯、血糖混杂因素之后,SCNN1G基因G(-173)A位点的多态性未进入方程。结论在新疆哈萨克族群体中存在G(-173)A位点变异,但该变异可能与新疆哈萨克族原发性高血压不相关。更多还原

【Abstract】 Objective To investigate the relationship between Polymorphism G(-173) A in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and essential hypertension in Xinjiang Kazaks population.Methods The study covered 466 essential hypertensive patients (ET group) and 259 normotensive subjects (NT group) in Xinjiang Kazaks population.A variant of SCNN1G was genotyped by TaqMan technique.The distribution of genotypic and allelic frequencies between two groups were analyzed,Multiple logistic analyses were used to test the association of the polymorphism with hypertension.Results The frequency of genotype GG、GA and AA in ET were 52.8%、41.8%、5.4%,while in NT were 52.5%、41.3%、6.2%;and the frequency of allele G、A were 73.7%、26.3% in ET group,and 73.2%、26.8% in NT group.The G(-173)A genotype distribution and allele frequencies were not statistically significant in ET,as compared with NT(P>0.05);Using multiple logistic analyses,adjusted for age,sex,BMI,CHO,TG,GLU,The G(-173)A polymorphism was excluded as independent variable.Conclusions In Xinjiang Kazaks population,there were three kinds of genotypes of G(-173)A polymorphism,and the study suggested that SCNN1G G(-173)A polymorphism might not be associated with essential hypertension.更多还原