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目的探讨内向整流钾通道J亚家族成员5(KCNJ5)基因C171T变异与低血钾原发性醛固酮增多症(原醛)的相关性。方法将原醛患者364例分为低血钾组(n=115)和正常血钾组(n=249),应用TaqMan PCR技术对C171T变异在所有原醛患者中进行分型,分析C171T变异与低血钾的相关性。结果 KCNJ5基因C171T变异在所有原醛患者中成功分型,其基因型、等位基因的分布符合Hardy-Weinberg平衡;在总体及女性患者中,两组患者C171T变异的基因型、等位基因及显性模型的频率分布差异有统计学意义(P<0.05);校正年龄、吸烟、饮酒和体质量指数后,Logistic回归分析显示KCNJ5基因C171T变异的CT+TT型是女性原醛患者发生低血钾的危险因素(OR=2.499,95%CI1.168~5.349,P=0.018);在女性患者中,与CC型相比,CT+TT型的血钾水平减低,而血清醛固酮水平增高(均P<0.05)。结论 KCNJ5基因的C171T变异与女性低血钾原醛相关。
Objective To investigate the relationship between the C171T mutation of KCNJ5 gene and the primary hyperaldosteronism (proto - aldehyde) in potassium subfamily of inward rectifier potassium channel. Methods 364 patients with primary aldosteronism were divided into hypokalemia group (n = 115) and normal potassium group (n = 249). The C171T mutation was genotyped in all primary aldosteronous patients by TaqMan PCR. The C171T mutation and Hypokalemia relevance. Results The C171T mutation of KCNJ5 gene was successfully genotyped in all patients with primary aldehyde. The distribution of genotype and allele of KCNJ5 gene was in accordance with Hardy-Weinberg equilibrium. The genotype and allele of C171T mutation in both groups Logistic regression analysis showed that the CT + TT type of C171T mutation in KCNJ5 gene was a result of hypoalgesia in female patients with primary aldosteronism (P <0.05). After adjusting for age, smoking, alcohol consumption and body mass index, (OR = 2.499, 95% CI, 1.68-5.349, P = 0.018). In female patients, CT + TT type had lower serum potassium level and higher serum aldosterone level P <0.05). Conclusion The C171T mutation of KCNJ5 gene is associated with hypokalemia and primary aldosteronism in women.