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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。
Objective To investigate the relationship between the polymorphism of G (3091) A in αENaC gene and essential hypertension in Xinjiang Kazak. Methods Totally, 259 patients with essential hypertension (hypertension group) and 266 with normal blood pressure (control group) were enrolled in this study. Patients with essential hypertension with systolic blood pressure ≥140mmHg and / or diastolic blood pressure ≥90mmHg in Xinjiang were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of G (3091) A locus to analyze the genotypes and alleles of hypertension group and normal control group Frequency Distribution and Its Correlation with Hypertension. Results There were AA, AG and GG genotypes and A and G alleles at G (3091) A site in αENaC gene in Xinjiang Kazak. The distribution frequencies of AA, AG and GG were 0.196, 0.520 and 0.284, respectively. The frequencies of alleles A and G were 0.455 and 0.545, respectively, which were in accordance with Hardy-Weinberg equilibrium (X2 = 1.21, P = 0.27). The frequencies of three genotypes in hypertension group and normal control group were 0.197,0.521,0.282 and 0.195,0.519,0.286, respectively. The frequencies of A and G alleles were 0.456,0.544 and 0.454,0.546, respectively There was no significant difference in the frequency of alleles between the two groups. There was no significant difference in blood pressure among genotypes. After stratified analysis by gender and body mass index respectively, there was no significant difference in the three genotypes between the hypertensive group and the normal control group. Multivariate Logistic regression analysis showed that the genotype of G (3091) A polymorphism did not enter the equation. Conclusion There is variation in the αENaC gene G (3091) A in Xinjiang Kazak, which may not be related to the Kazak nationality in Xinjiang.