CAJ | 학술논문

目的探讨醛固酮合酶基因(CYP11B2)和11-β羟化酶基因(CYP11B1)多态性及其单体型与醛固酮瘤发病风险的关系.方法提取81例醛固酮瘤患者和103例对照人群外周血DNA,应用2个独立聚合酶链反应(PCR)和TaqMan探针技术对CYP11B2和CYP11B1基因的7个多态性位点(rs6387、rs6410、rs3097、rs4539、intron2转位、rs1799998、rs 13268025)进行基因分型,采用Logistic回归模型分析不同等位基因、基因型和单体型与醛固酮瘤发病风险的相关性.结果 intron2转位多态性位点C等位基因在病例组中的分布频率(25.3％)高于对照组(15.0％),携带C等位基因的个体较携带W等位基因的个体发生醛固酮瘤的风险增加了1.04倍(P＜0.01).rs13268025位点中携带C等位基因的个体较携带T等位基因的个体发生醛固酮瘤的风险增加了0.91倍(P＜0.05).7个多态性位点间存在着不同程度的连锁不平衡.单体型分析示AGGAWTT为最常见的单体型,单体型GAGAWTT是AGGAWTT发病风险的4.43倍(P＜0.01).结论 CYP11B2和CYP11B1基因多态性与醛固酮瘤发病风险明显相关,intron2转位多态性位点的C等位基因、rs13268025位点的C等位基因、单体型GAGAWTT是醛固酮瘤发病的危险因素.
목적 탐토철고동합매기인(CYP11B2)화11-β간화매기인(CYP11B1)다태성급기단체형여철고동류발병풍험적관계.방법 제취81례철고동류환자화103례대조인군외주혈DNA,응용2개독립취합매련반응(PCR)화TaqMan탐침기술대CYP11B2화CYP11B1기인적7개다태성위점(rs6387、rs6410、rs3097、rs4539、intron2전위、rs1799998、rs 13268025)진행기인분형,채용Logistic회귀모형분석불동등위기인、기인형화단체형여철고동류발병풍험적상관성.결과 intron2전위다태성위점C등위기인재병례조중적분포빈솔(25.3％)고우대조조(15.0％),휴대C등위기인적개체교휴대W등위기인적개체발생철고동류적풍험증가료1.04배(P＜0.01).rs13268025위점중휴대C등위기인적개체교휴대T등위기인적개체발생철고동류적풍험증가료0.91배(P＜0.05).7개다태성위점간존재착불동정도적련쇄불평형.단체형분석시AGGAWTT위최상견적단체형,단체형GAGAWTT시AGGAWTT발병풍험적4.43배(P＜0.01).결론 CYP11B2화CYP11B1기인다태성여철고동류발병풍험명현상관,intron2전위다태성위점적C등위기인、rs13268025위점적C등위기인、단체형GAGAWTT시철고동류발병적위험인소.
Objective To evaluate the effects of aldosterone synthase (CYP1 1B2) and 11-beta hydroxylase (CYP1 1 B1) genes polymorphism and haplotype on the susceptibility of aldosterone producing adenoma.Methods Peripheral blood DNA was extracted from 81 aldosterone producing adenoma patients and 103 control subjects.Real-time TaqMan probes technique and two seperate PCRs were used for genotyping seven polymorphism sites of the CYP1 1B2 and CYP11B1 genes (rs6387,rs6410,rs3097,rs4539,intron 2 conversion,rs1799998,rs13268025).Logistic regression model was performed to analyze the relationship of different genotypes or haplotype and the susceptibility of aldosterone producing adenoma.Results The frequency for allele C at site intron 2 conversion in the case group (25.3％) was higher than that in the control group (15.0％).The risk of aldosterone producing adenoma in individuals carrying C allele was increased by 1.04 times compared with the individuals carrying W allele (P ＜ 0.01).For rs13268025,the risk in individuals carrying C allele was increased by 0.91 times (P ＜ 0.05).Linkage disequilibrium analysis showed that these seven variants were in different strengths of LD.The haplotype analysis demonstrated that AGGAWTT was the most common haplotype,and the aldosterone producing adenoma risk of GAGAWTT was 4.43 times higher than AGGAWTT (P ＜ 0.01).Conclusion There was a significant association between polymorphism in the CYP11 B2 and CYP11B1 genes with aldosterone producing adenoma.The allele C of site intron2 conversion,the allele C of site rs13268025 and haplotype GAGAWTT might be risk factors for aldosterone producing adenoma.