ACE基因I/D多态性与风湿性心脏病的相关性研究

目的:探讨血管紧张素转换酶(Angiotensin converting enzyme,ACE)基因插入/缺失(I/D)多态性与中国人风湿性心脏病(Rheumatic heart disease,RHD)易感性的关系.方法:以病例-对照法,采用聚合酶链反应(PCR)检测246例风湿性心脏病患者和223例正常对照组的ACE基因型.病例组进一步分为二尖瓣病变组和联合瓣膜病变组,结合临床资料统计分析各组数据.结果:ACE I/D各基因型在RHD病例组和对照组分布差异无统计学意义,但病例组ACE Ⅰ型等位基因频率高于对照组(70.1％ vs 63.9％),差异有统计学意义(P＜0.05).联合瓣膜病变患者组中,ACE Ⅱ、ID、DD基因型频率分别为51.8％、39.2％和9.0％,I、D等位基因频率分别为71.4％及28.6％.ACE Ⅱ基因型和Ⅰ型等位基因在联合瓣膜病变组和对照组的分布差异均有统计学意义(P＜0.05).结论:ACE基因I/D多态性可能与中国人风湿性心脏病的遗传易感性相关.

Association of angiotensin I-converting enzyme gene insertion/deletion polymorphism with susceptibility of Rheumatic Heart Disease

AIM： To investigate the relationship between angiotensin I-converting enzyme（ACE） gene insertion/deletion（I/D） polymorphism and rheumatic Heart disease（RHD） in Chinese patients.METHODS： Case-control study and polymerase chain reaction（PCR） were used to investigate the ACE I/D polymorphism in 246 patients with RHD and 223 normal people.Patients were further classified into those with only mitral valve lesion or combined valve lesion.Then,the relationship between ACE gene polymorphisms and susceptibility to RHD was studied.RESULTS：No significant difference was observed between the cases and control group.However,the frequency rate of I allele in the patients group was higher than that of the controls（70.1% vs 63.9%）,showed a significant difference in the distribution of the ACE I allele frequencies（P〈0.05）.In the combined valve lesion group,the genotype frequencies of ACE genotypes I/I,I/D and D/D were 51.8%,39.2% and 9.0% respectively.ACE I allele and D allele frequencies were 71.4% and 28.6% respectively.Both the ACE-II genotype and the ACE I allele frequencies were higher in RHD group（P〈0.05）.CONCLUSION： The study shows that ACE I/D gene polymorphisms is associated with development of RHD in Chinese,and ACE I allele may be a risk factor for RHD in Chinese.