土家族人醛固酮合酶(CYP11B2)基因-344 C/T的多态性与心房颤动的关系

目的:探讨土家族人醛固酮合酶(CYP11B2)基因-344 C/T的多态性与心房颤动(AF)的关系。方法:将来自恩施自治州的土家族人群分为AF组(n=150)和对照组(n=150)。采用成组配比研究,取静脉血,提取基因组DNA,采用聚合酶链反应-限制性酶切片段长度多态性分析技术对两组人群CYP11B2-344 C/T的多态性进行分析。结果:CYP11B2-344 CT+CC基因型频率在AF组与对照组之间存在显著差异(54.1%比40%,P=0.039),等位基因在两组间亦存在同样的趋势(C/T分别为29.4%和21.3%,P=0.022)。单因素非条件Logistic回归分析CT+CC基因型患AF的危险性高(OR=1.86,95%CI=1.42-4.22,P=0.03),排除混杂因素后,CT+CC基因型与人群患AF的风险呈弱相关(OR=1.79,95%CI=1.09-3.56,P=0.048);与卧位醛固酮水平呈正相关(OR=2.04,95%CI=1.31-4.35,P=0.02)。结论:在恩施自治州的土家族人群中,CYP11B2-344 C/T的点突变与AF的发生呈弱相关性,有可能是AF的遗传危险因素。

Association of Aldosterone Synthase (CYP11B2) Gene-344 C/T Polymorphism with Atrial Fibrillation in the Tujia Population in China

Objective: To investigate the relationship between the polymorphism of aldosterone synthase(CYP11B2) gene-344 C/T and atrial fibrillation(AF) in Tujia population in central China.Methods: In this study,all subjects came from the Tujia population in Enshi Autonomous Prefecture,Hubei Province,including 150 AF patients(AF group) and 150 non-AF subjects(control group).Blood samples were acquired to extract genomic DNA,and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to analyze the polymorphism of the aldosterone synthase(CYP11B2) gene-344 C/T in these two populations.Results: There was significant difference between AF group and control group in CT + CC frequencies of CYP11B2-344 C/T(respectively 54.1% vs 40%,P = 0.039), and in alleles C/T frequency(29.4% vs 21.3%,P = 0.022).After single factor non-conditional logistic regression analysis,there were more risk for the population carrying CT + CC gene suffering from AF(OR =1.86,95%CI =1.42-4.22,P =0.03);After exclusion of confounding factors,there was a weak association between CT + CC genotype and the risk of suffering from AF(OR = 1.79,95% CI = 1.09-3. 56,P = 0.048),but CT + CC genotype was positively related to supine aldosterone levels(OR = 2.04, 95%,CI = 1.31-4.35,P = 0.02).Conclusion: Among the Tujia population in Enshi Autonomous Prefecture,CYP11B2-344 C/T gene polymorphisms is weakly associated with AF,which may be a genetic risk factor of AF.