醛固酮合成酶基因多态性与急性脑梗死相关性研究  

Association study between a polymorphism of aldosterone synthase gene and acute cerebral infarction

作　　者：王秀艳[1] 袁建新[1] 刘春英[2] 李洪芬[1] 沈志霞[1] 任燕[1] 吴寿岭[1] 

机构地区：[1]华北煤炭医学院附属开滦医院神经内科,河北唐山063000 [2]河北唐山开滦医疗集团林西矿医院神经内科,河北唐山063000

出　　处：《中风与神经疾病杂志》2005年第6期546-549,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的研究醛固酮合成酶(CYP11B2)基因-344T／C多态性与急性脑梗死(ACI)的关系。方法应用多聚酶链-限制性片段长度多态性(PCR-RFLP)技术,对341例ACI患者和329例正常人的CYP11B2基因-344位点基因多态性进行检测,并用放射免疫方法测定其血浆醛固酮的浓度。结果病例组CYP11B2基因TC和CC基因型的频率显著高于对照组,分别为38．12％和9．97％,相对于TT基因型,暴露于TC和CC基因型人群的OR值分别为 1．72和1．88;病例组C等位基因的频率也显著高于对照组,为29．03％,相对于T等位基因,C等位基因的OR值为 1．57。携带CC基因型的个体,ALD浓度病例组显著高于对照组(P<0．05);病例组中CC基因型的血浆醛固酮 (ALD)浓度显著高于TT基因型(P<0．05)。结论醛固酮合成酶(CYP11B2)基因-344T／C多态性与ACI相关;C 等位基因可能是中国人ACI的一个遗传标志。Objective To study the relationship of aldosterone .synthase （CYP11B2） gene-344T/C polymorphism and acute cerebral infarction （ACI）. Methods 341 patients with ACI were enrolled into this study, 329 healthy people were as control group. 344T/C polymorphism of CYP11B2 gene was monitored by polymerize chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The plasma aldosterone （ALD） levels were determined in radio-immune assay. Results The frequency of TC and CC genotype in ACI cases were significantly higher than in controls （38. 12% and 9.97%）. The odds ratios （OR） for those exposed to TC and CC genotypes were 1.72 and 1.88 ,comparing with TT genotype. The frequency of C allele in ACI cases was 29.03% ,significantly higher than that of controls. The OR for those exposed to C allele was 1.57 ,comparing with T allele. For people with CC genotype,the plasma ALD levels of ACI cases were significantly higher than that of controls （P〈0.05）. The plasma ALD levels of CC genetype were significantly higher than that of TT in ACI cases （P〈0. 05）. Conclusion The-344T/C polymorphism in the CYP11B2 gene is associated with ACI in china. C allele may he a genetic marker in ACI in china.

关 键 词：醛固酮合成酶基因 多态性 脑梗死 醛固酮 

分 类 号：R743.3[医药卫生—神经病学与精神病学]