醛固酮合成酶基因多态性与急性脑梗死相关性研究

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。

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

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 be a genetic marker in ACI in china.