血管紧张素原基因多态性与肥厚型心肌病的相关性分析

目的 探讨血管紧张素原(AGT)基因的单核苷酸多态性(SNP)位点A943580G与肥厚型心肌病(HCM)的相关性.方法 用PCR-RFLP方法对225个HCM病人和243个正常人的AGT的SNP位点A943580G进行基因分型(此位点与黑色人种中的高血压病人的最大早期充盈速度有关).结果 携带AA和AG基因型的HCM病人的左心室流出道梗阻率明显高于GG基因型的梗阻率(30.1%比17.0%,P＜0.05).通过对发病年龄,性别,室间隔厚度,HCM家族史以及家族猝死史进行调整后,携带A等位基因(AA AG)的HCM病人左心室流出道梗阻率要高于GG基因型病人(OR=2.4,95%CI 1.2 to 4.8).结论 AGT的A等位基因可能是HCM病人发生左心室流出道梗阻的危险因子.

The Association study between angiotensinogen gene variation and hypertrophic cardiomyopathy

Objective To investigate the relationship between hypertrophic cardiomyopathy and angiotensinogen gene variation.Methods We genotyped the polymorphism of AGT gene in 225 HCM patients and 243 age-and sex-matched healthy controls.PCR-RFLP is used to genotype.Results The patients carrying A allele had a higher proportion of left ventricular outflow obstruction (30.1% versus 17.0%,P<0.05) than those carrying GG genotype.After adjusted for age at diagnosis,sex,interventricular septum,family history of HCM and family history of sudden death by using multiple regression analysis,the A allele confers 2.4 fold risk for left ventricular outflow obstruction than GG genotype (adjusted OR=2.4,95%CI 1.2 to 4.8).Conclusion A allele of AGT might be a genetic contributor for patients with HCM to develop left ventricular outflow obstruction.