αENaC基因G(2139)A多态性与新疆哈萨克族原发性高血压的关联分析

Correlation between αENaC gene G(2139)A polymorphism and essential hypertension in Xinjiang Kazakans

目的:研究α上皮细胞钠通道(ENaC)基因G(2139)A多态性与新疆哈萨克族原发性高血压(EH)的关系。方法:采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法,对新疆哈萨克族261例EH患者(高血压组)和263例血压正常者(正常对照组)进行G(2139)A多态性检测,分析2组基因型和等位基因的频率分布,分别以性别、体重指数(BMI)、年龄分层后分析2组G(2139)A多态性基因型的分布,并采用Logistic多元回归法分析基因多态性和其它危险因素对疾病表型的作用。结果:新疆哈萨克族αENaC基因G(2139)A位点存在AA(26.2%)、AG(51.6%)、GG(22.2%)3种基因型和A(51.9%)、G(48.1%)2种等位基因,符合Hardy-Weinberg平衡(χ2=0.60,P=0.43)。EH组和正常对照组中AA、AG、GG基因型频率分别为24.9%、52.5%、22.6%和26.7%、49.6%、21.1%,A、G等位基因频率分别为51.1%、48.9%和52.8%、47.2%,2组间基因型和等位基因频率分布差异无统计学意义(χ2分别为0.41、0.30,P>0.05)。不同基因型携带者之间血压的差异无统计学差异(P>0.05),分别按性别、BMI、年龄进行分层分析后,2组3种基因型频率分布差异无统计学意义(P>0.05)。多因素Logistic回归分析,G(2139)A多态性基因型未进入方程。结论:新疆哈萨克族αENaC基因存在G(2139)A变异,该变异可能与新疆哈萨克族EH不相关。

Objective： To investigate the relationship between αENaC gene G（2139）A polymorphism and essential hypertension in Xinjiang Kazakans. Methods： We selected 261 essential hypertensive patients （EH BP〈140/90 mmHg of Kazakans in Xinjiang. αENaC gene G（2139）A polymorphism of these subjects were measured by PCR-RFLP and the distribution of genotypic, allelic frequencies were analyzed between two groups. The distribution of genotypic frequencies between two groups was analyzed through stratified data with gender,BMI, age. Multiple logistic analyses were used to test the association of the polymorphism and other risk factors with hypertension. Results： In the population, the frequencies of the genotype AA, AG, GG were 26.2%, 51.6%, 22.2% and the frequencies of allele A, G were 51.9%, 48.1% respectively, the genotypic and allelic frequencies were in Hardy-Weinberg equilibrium （X^2 =0. 60, P =0.43）. The distributed frequencies of AA, AG, GG genotype were 24.9%, 52.5%, 22.6% of EH group and 26.7%, 49.6%, 21. 1% of controls respectively. The distributed frequencies of A and G allele were 51. 1%, 48. 9% of EH group and 52.8%, 47.2% of controls respectively. Both of genotypic and allelic frequencies had no significant difference between two groups （X^2 =0.41,0. 30, P 〉0.05）. There was no significant difference of blood pressure among subjects with the three kinds of genotypes （P 〉0.05）. Through analysis of the data stratified with gender,BMI, age, the distribution of genotypic frequencies had no significant difference between two groups （P〉 0.05）. In multiple logistic analyses, the genotype of the G（2139）A polymorphism were excluded as independent variables. Conclusion： There were three kinds of genotypes of G（2139）A polymorphism in Kazakans of Xinjiang. morphism might not be associated with essential hy The study suggested the αENaC gene G（2139）A poly- pertension in Kazakans.