CAJ | 학술논문

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.
목적 탐토KCNJ5기인rs3740835 (C/A)화rs2604204 (A/C)위점다태성여단쌍측원발성철고동증다증(primary aldosteronism,PA)역감성적관계 방법 연구대상포괄병례조위83례단측PA화142례쌍측PA,818례원발성고혈압(essential hypertension,EH)환자작위대조.이TaqMan분형기술대양본KCNJ5기인적rs3740835(C/A)화rs2604204 (A/C)위점진행기인형감정.결과 rs3740835 (C/A)위점A등위기인급AA+ AC기인형빈솔재단측PA조명현고우EH조(P＜0.05),재쌍측PA조여EH조상비차이무통계학의의(P＞0.05);rs2604204 (A/C)위점적각등위기인급기인형재단쌍측PA조적분포여EH조상비차이균무통계학의의(P＞0.05).량위점C-A단배형빈솔재단측PA조명현고우EH조,이A-A빈솔칙명현저우EH조,각단배형빈솔재쌍측PA조여EH조상비차이무통계학의의.결론 rs3740835(C/A)다태성가능화단측PA역감성유관,이여쌍측PA무관;rs2604204 (A/C)다태성여단쌍측PA적역감성균무관;량위점C-A단배형급A-A단배형가능분별시단측PA적역감인소화보호인소,각단배형여쌍측PA역감성균무관.
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.