KCNJ5基因多态性与单双侧原发性醛固酮增多症的关联性研究

Association of KCNJ5 gene rs3740835 （C/A） and rs2604204 （A/C） polymorphism with unilateral and bilateral primary aldosteronism

目的探讨KCNJ5基因rs3740835（C／A）和rs2604204（A／C）位点多态性与单双侧原发性醛固酮增多症（primary aldosteronism，PA）易感性的关系方法研究对象包括病例组为83例单侧PA和142例双侧PA，818例原发性高血压（essential hypertension，EH）患者作为对照。以TaqMan分型技术对样本KCNJ5基因的rs3740835（c／A）和rs2604204（A／C）位点进行基因型鉴定。结果rs3740835（c／A）位点A等位基因及AA＋AC基因型频率在单侧PA组明显高于EH组（P〈0．05），在双测PA组与EH组相比差异无统计学意义（P〉0．05）；rs2604204（A／C）位点的各等位基因及基因型在单双侧PA组的分布与EH组相比差异均无统计学意义（P〉0．05）。两位点C—A单倍型频率在单侧PA组明显高于EH组，而A．A频率则明显低于EH组，各单倍型频率在双侧PA组与EH组相比差异无统计学意义。结论rs3740835（C／A）多态性可能和单侧PA易感性有关，而与双侧PA无关；rs2604204（A／C）多态性与单双侧PA的易感性均无关；两位点C-A单倍型及A—A单倍型可能分别是单侧PA的易感因素和保护因素，各单倍型与双侧PA易感性均无关。

Objective To assess the association between polymorphisms of rs3740835 （C/A） and rs2604204（A/C） in KCNJ5 gene with the susceptibility to unilateral and bilateral primary aldosteronism （PA）. Methods A total of 1043 subjects were studied, which included 83 unilateral PA patients, 142 bilateral PA patients and 818 essential hypertensive（EH）patients. The polymorphism of KCNJ5 gene at rs3740835（C/A） and rs2604204（A/C） position were analyzed with a TaqMan genotyping technique. Results Frequencies of A allele and AA＋AC genotype at rs3740835（C/A） in unilateral PA group were significantly higher than EH group （P〈0.05）. However, the above frequencies did not show a statistical significance between bilateral PA group and EH group （P 〈 0. 05）. No statistical difference was detected in the distribution of alleles or genotypes at rs2604204 （A/C） between unilateral PA and EH group or between bilateral PA and EH group. Haplotypic frequencies of C-A and A-A in unilateral PA group were significantly higher and lower than EH group, respectively. However, there was no statistical difference in the haplotype distribution between bilateral PA and EH groups. Conclusion Rs3740835 （C/A） polymorphism may be associated with unilateral PA but not with bilateral PA. rs2604204 （A/C） polymorphism is not associated with either unilateral or bilateral PA. Haplotype C-A and A-A may respectively be susceptibility factor and protective factor for unilateral PA. No haplotype has been found to associate with bilateral PA.