CYP11B1和CYP11B2基因多态性与醛固酮瘤发病风险的相关性  

Association of polymorphisms in CYP11B2 and CYP11B1 genes with risk of aldosterone-producing adenoma

作　　者：黄若辉 康欢 邹晓峰[1] 张国玺[1] 王保军[3] 欧阳金芝[3] 马鑫[3] 张旭[3] 曾庆明[1] 曾晓鹏[1] HUANG Ruohui;KANG Huan;ZOU Xiaofeng;ZHANG Guoxi;WANG Baojun;OUYANG Jinzhi;MA Xin;ZHANG Xu;ZENG Qingming;ZENG Xiaopeng(The First Affiliated Hospital of Gannan Medical University,Ganzhou 341000,China)

机构地区：[1]赣南医学院第一附属医院,江西赣州341000 [2]赣州市立医院 [3]中国人民解放军总医院

出　　处：《山东医药》2019年第26期22-26,共5页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(81260128,81100561,81170732)

摘　　要：目的探讨11-β羟化酶(CYP11B1)、醛固酮合酶(CYP11B2)基因多态性与醛固酮瘤(APA)发病风险的相关性。方法采用实时荧光定量聚合酶链式反应(real-time PCR)TaqMan-MGB探针法检测80例醛固酮瘤患者(APA组)和101例体检健康者(对照组)外周血中CYP11B1基因rs5301、rs6471570及CYP11B2基因rs3802228、rs3802230、rs4545、rs4546、rs6433单核苷酸多态性(SNP)位点,应用SNPassoc1.9-2和Haplo Stats2.17.0软件分析CYP11B2和CYP11B1基因型和单体型与APA发病风险的相关性。结果APA组CYP11B1基因rs5301位点的A等位基因和CYP11B2基因rs3802228位点的A等位基因、rs6433位点的G等位基因频率均高于对照组(P均<0.05);将性别、年龄及BMI校正后,APA组CYP11B2基因rs4545位点AG基因型频率低于对照组(P<0.05)。单体型分析发现,APA组GAACAAC、GCGAAGT频率低于对照组(P=0.012,OR=0.73,95%CI为0.57~0.93;P=0.012,OR=0.81,95%CI为0.69~0.95)。结论CYP11B1和CYP11B2基因多态性与APA发病相关。其中,CYP11B2基因多态性位点rs4545与APA人群有关,CYP11B2基因和CYP11B1基因组成的单体型GAACAAC、GCGAAGT与APA发病风险呈负相关。Objective To investigate the association of DNA polymorphisms in CYP11B2 and CYP11B1 loci with the risk of aldosterone-producing adenoma(APA).Methods We used the real-time PCR TaqMan-MGB probe to detect the single nucleotide polymorphism(SNP)of CYP11B1 gene rs5301,rs6471570 and CYP11B2 gene rs3802228,rs3802230,rs4545,rs4546,and rs6433 loci in the peripheral blood of 80 patients with APA(APA group)and 101 healthy controls(control group).SNPassoc 1.9-2 and Haplo stats 2.17.0 software were performed to analyse the correlation of the CYP11B2 and CYP11B1 haplotype and genotype with the risk of APA.Results The frequencies of the A allele of rs5301,A allele of rs3802228,and G allele of rs6433 were higher in the APA group than in the control group(all P<0.05).After we adjusted the sex,age and BMI,the frequency of the AG genotype of rs4545 in the APA group was less than that of the control group(P<0.05).The haplotype analysis showed that frequencies of GAACAAC and GCGAAGT were lower than those of the control group(OR=0.73,95%CI=0.57-0.93;OR=0.81,95%CI 0.69-0.95).Conclusions CYP11B2 and CYP11B1 gene polymorphisms are associated with the risk of APA.The polymorphism rs4545 locus of the CYP11B2 gene is associated with APA population,and APA is negatively correlated with haplotype GAACAAC and GCGAAGT.

关 键 词：11-β羟化酶 醛固酮合酶 基因多态性 醛固酮瘤 

分 类 号：R394.5[医药卫生—医学遗传学]