摘要目的 探索KCNJ5基因rs11221497位点多态性与原发性醛固酮增多症之间的相关性.方法 选取原发性醛固酮增多症患者248例,原发性高血压患者816例,采用TaqMan荧光探针法对rs11221497进行基因分型.结果 2组患者基因型均符合Hardy-Weinberg平衡；GG、GC、CC基因型在原发性醛固酮增多症组中分别为208、39、1例,在原发性高血压组分别为631、177、8例,C、C等位基因在原发性醛固酮增多症组分别为455、41,在原发性高血压组分别为l 439、193;原发性醛固酮增多症组的GG基因型及G等位基因频率明显高于原发性高血压组(P＜0.05)；Logistic回归显示,矫正了年龄的影响后,GG基因型同原发性醛固酮增多症密切相关.结论 GG基因型及G等位基因可能是原发性醛固酮增多症的易感因素.

abstractsObjective To investigate the association between KCNJ5 gene polymorphism and primary hyperaldosteronism(PA).Methods A total of 248 PA patients and 816 essential hypertension (EH) patients were enrolled in this study,TaqMan assay was used to detect the rs1221497 polymorphism of KCNJ5 gene.Results The genotypes of rs1221497 were in Hardy-Weinberg equilibrium in both PA group and EH group,the genotype frequencies ofGG,GC,CC were 208,39,1 in PA group and 631,177,8 in EH group respectively,the allele frequencies in the two groups were 455,41 and 1 439,193 respectively.The frequencies of GG genotype and G allele in PA group were significantly higher than those in EH group.Logistic regression showed that GG genotype was closely associated with PA after adjusting age.Conclusions GG genotype and G allele may contribute to the occurrence of PA.