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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 investigate the relationship between the -344T / C polymorphism of aldosterone synthase (CYP11B2) gene and acute cerebral infarction (ACI). Methods The genotypes of CYP11B2 gene at position -344 in 341 patients with ACI and 329 normal controls were detected by polymerase chain-restriction fragment length polymorphism (PCR-RFLP). The radioimmunoassay Aldosterone concentration. Results The frequencies of TC and CC genotypes of CYP11B2 gene in case group were significantly higher than those in control group (38.12% and 9.97%, respectively). Compared with TT genotypes, the OR of TC and CC genotypes exposed to TC and CC genotypes were 1 .72 and 1.88, respectively. The frequency of C allele in case group was also significantly higher than that of control group (29.03%). The OR of C allele was 1.57 with respect to T allele. The genotype of ALD in patients with CC genotype was significantly higher than that in controls (P <0.05). The plasma aldosterone (ALD) levels of CC genotype in the patients with CC genotype were significantly higher than those in TT genotype (P <0.05) . Conclusion The polymorphism of -344T / C in aldosterone synthase (CYP11B2) gene is associated with ACI. C allele may be a genetic marker of ACI in Chinese.