新疆哈萨克族αENaC基因G(3091)A位点的多态性与原发性高血压的相关性研究

Relationship between αENaC gene G(3091)A polymorphism and essential hypertension in the Xinjiang Kazakans population

目的研究αENaC基因G(3091)A位点的多态性与新疆哈萨克族原发性高血压的关系。方法选择收缩压≥140mmHg和/或舒张压均值≥90mmHg的新疆哈萨克族原发性高血压患者259例(高血压组)和血压正常者266例(正常对照组)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测G(3091)A位点的多态性,以分析高血压组和正常对照组的基因型和等位基因的频率分布及其与高血压的相关性。结果新疆哈萨克族αENaC基因G(3091)A位点存在AA、AG、GG3种基因型和A、G两种等位基因。基因型AA、AG、GG的分布频率分别为0.196、0.520和0.284;等位基因A、G的分布频率分别0.455和0.545,符合Hardy-Weinberg平衡(X2=1.21,P=0.27)。3种基因型在高血压组和正常对照组中的频率,分别为0.197、0.521、0.282和0.195、0.519、0.286;A、G等位基因的频率分别为0.456、0.544和0.454、0.546,基因型和等位基因的频率在两组间均无显著差异。各基因型之间血压的比较也无显著差异。分别按性别、体质量指数进行分层分析后,3种基因型在高血压组和正常对照组无显著差异。多因素Logistic回归分析,G(3091)A的多态性基因型未进入方程。结论新疆哈萨克族αENaC基因G(3091)A存在变异,该变异可能与新疆哈萨克族的原发性高血压不相关。

AIM： To investigate the relationship between αENaC gene G （3091）A polymorphism and essential hypertension in Xinjiang Kazakans population. METHODS： Two hundred fifty nine essential hypertensive patients （EH groups） with SBP ≥140 mmHg and/or DBP ≥90 mmHg and 266 normotensive subjects （control groups） with BP 〈 140/90 mmHg were selected from a Xinjiang Kazakans population. Genotypes of αENaC gene G（ 3091 ）A polymorphism were detected by the polymerase chain reactionrestriction fragment length polymorphism （PCR-RFLP） technique, and its distribution and relationship to hypertension were investigated. RESULTS ： In the studied population, frequencies of genotypes AA, AG and GG were 0. 196, 0. 520 and 0. 284, respectively, and frequencies of alleles A and G were 0. 455 and 0. 545, respectively. Genotypes and allele frequencies were in Hardy-Weinberg equilibrium （X^2 = 1.21, P =0. 27）. The distributed frequencies of AA, AG and GG were 0. 197, 0. 521 and 0. 282 in hypertensive patients and 0. 195,0. 519 and 0. 286 in controls, respectively. The distributed frequencies of A and G alleles were 0. 456 and 0. 544 in hypertensive patients and 0. 454 and 0. 546 in controls, respectively. No significant differences in genotype and allele distributions were found between EH groups and control groups. No significant differences in blood pressure were found among the three genotypes. By analyzing the data stratified according to gender and BMI, no significant difference in the distribution of genotype frequencies were found between EH group and control group. Using multiple logistic analyses, the genotype of the G（3091 ）A polymorphism was excluded as an independent variable. CONCLUSION： Polymorphism of αENaC gene G（3091 ）A existed in the Xinjiang Kazakans population and the αENaC gene G （3091）A polymorphism may not be associated with essential hypertension in Kazakans population.