原发性醛固酮增多症主要亚型的基因分型研究  

Analysis of polymorphism of CYP11B2 gene in major subtypes of primary hyperaldosteronism

作　　者：郭瑞敏[1,2] 龚艳春[1] 郭冀珍[1] 初少莉[1] 朱鼎良[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院高血压科上海市高血压研究所,上海200025 [2]上海中医药大学附属普陀医院老年科,上海200333

出　　处：《内科理论与实践》2011年第2期135-139,共5页Journal of Internal Medicine Concepts & Practice

基　　金：上海市卫生局课题(项目编号:2006041)

摘　　要：目的:探讨利用肾上腺静脉取血(AVS)法分析原发性醛固酮增多症(PH)的醛固酮腺瘤(APA)型和特发性醛固酮增多症(IHA)型与通过醛固酮合成酶(CYP11B2)4个基因多态性位点行基因分型之间的关系。方法:入选本院住院患者中通过氟氢可的松抑制试验(FST)确诊,并行AVS分型定位诊断的PH患者120例,根据AVS结果分为APA组57例(男36例,女21例)和IHA组63例(男36例,女27例)。筛选同期住院确诊为原发性高血压(EH)患者200例(低肾素EH组58例,正常或高肾素EH组142例),并与上述2组在性别、年龄、高血压病程相匹配。采用限制性内切酶片断长度多态性方法(RFLP)和实时定量PCR法进行3组CYP11B2 T(-344)C、Lys173Arg(K173R)、CYP11B2第2内含子(Rs10086846位点、Rs7461740位点)基因分型研究。结果:①在PH患者中携带TT/KK/CT/CG基因型患IHA的可能性增加(APA组6.5%,IHA组29.5%,EH组16.1%,P=0.026)。②与正常或高肾素EH组优势基因型比较发现,低肾素EH患者中携带TT/KK/CT/CG基因型易于发展为IHA。结论:IHA优势诊断基因型为TT/KK/CT/CG。Objective To investigate the correlation between two major subtypes of primary aldosteroism（PH）,aldosterone-producing adenoma（APA） and idiopathic aldosteronism（IHA）,with gene polymorphism of CYP11B2.Methods One hundred and twenty PH patients and 200 essential hypertension（EH） patients admitted from August 2005 to March 2007 were enrolled.The 120 PH patients were categorized into APA（57 patients） and IHA（63 patients） groups by adrenal vein sampling（AVS） test.The correlation between polymorphisms of CYP11B2 T（-344）C,Lys173 Arg（K173R） and intron2（Rs10086846,Rs7461740）determined by restriction fragment length polymorphisms（RFLP） and real-time PCR and the three groups（EH,APA,IHA） was analyzed.Results Genotype TT/KK/CT/CG had the highest frequency in IHA（IHA 29.5% vs APA 6.5% vs EH 16.1%,P=0.026）.And the low renin EH patients with genotype TT/KK/CT/CG had a trend to develop IHA more commonly.Conclusions Genotype TT/KK/CT/CG had the highest frequency in IHA.

关 键 词：原发性醛固酮增多症 原发性高血压 基因型 醛固酮腺瘤 特发性醛固酮增多症 

分 类 号：R586.24[医药卫生—内分泌]