汉族人群中GIRK4的基因多态性与原发性醛固酮增多症遗传易感性的关系探讨

Relationship between gene polymorphism of GIRK4 in Han population and genetic susceptibility of primary aldosteronism

目的:探讨汉族人群中G-蛋白偶联内向整流钾离子通道4(GIRK4)的基因多态性与原发性醛固酮增多症(PA)遗传易感性的关系。方法:选取2016年1月至2017年12月新疆维吾尔自治区人民医院收治的汉族PA患者80例为研究组,同期选取本院体检中心接收的汉族健康人员80例为对照组,分析并鉴定外周血细胞中GIRK4基因rs11221497、rs4937391多态性位点分布和等位基因频率,采用Logistic回归分析法分析GIRK4基因rs11221497、rs4937391位点多态性与PA遗传易感性关系。结果:两组rs11221497、rs4937391位点基因型频率均符合Hardy-Weinberg遗传平衡规律,两组受试者GIRK4基因rs11221497位点基因型等级分布比较,差异具有统计学意义(P<0.05),且研究组rs11221497位点C等位基因频率显著低于对照组(P<0.05);两组受试者GIRK4基因rs4937391位点基因型等级分布及等位基因频率比较差异无统计学意义(P>0.05);经Logistic回归分析,GIRK4基因rs11221497位点CC、CG、GG基因型及C、G等位基因可能是PA遗传易感性的影响因素(P<0.05),而GIRK4基因rs4937391位点AA、AG、GG基因型、A、G等位基因可能与PA遗传易感性无关(P>0.05)。结论:PA遗传易感性可能与GIRK4基因rs11221497位点多态性有关,与rs4937391位点多态性无关。

Objective： To explore the relationship between the genetic polymorphism of G-protein-coupled inward rectifier K ＋ channels 4 （GIRK4） and the genetic susceptibility of primary aldosteronism （PA） in the Han population.Methods： A total of 80 Han PA patients treated in our hospital from January 2016 to December 2017 were enrolled as a study group.80 Han healthy subjects were defined as a control group.The frequencies of gene-types distribution and alleles in rs11221497,rs4937391 sites of GIRK4 gene in peripheral blood were compared.The relationship between rs11221497,rs4937391 polymorphism of GIRK4 gene and PA were analyzed by logistic regression analysis.Results： The gene-types frequencies of rs11221497 and rs4937391 were consistent with the genetic balance law of Hardy-Weinberg.There was significant difference in the distribution of the gene-types in rs11221497 site of GIRK4 between the two groups （ P 〈0.05）.The frequency of C allele in rs11221497 site of GIRK4 in the study group was significantly lower than that in the control group （ P 〈0.05）.There were no significant differences in the distribution of the gene-types and the alleles frequencies in rs4937391 site of GIRK4 between the two groups （ P 〉0.05）.The CC,CG,GG gene-types and the C,G alleles in rs11221497 site of GIRK4 might be the influencing factors of PA genetic susceptibility （ P 〈0.05）,while the AA,AG,GG gene-types and the A,G alleles in rs4937391 site of GIRK4 might not be related to PA genetic susceptibility （ P 〉0.05）.Conclusion： PA genetic susceptibility might be associated to the polymorphism of GIRK4 gene rs11221497,but it was not related to the polymorphism of rs4937391.