连锁分析血管紧张素转换酶基因插入/缺失多态性和血管紧张素原 M235T基因多态性与肥厚型心肌病的关系

目的 连锁分析中国人群血管紧张素转换酶（ACE）基因插入／缺失多态性及血管紧张素原（AGT）M235T基因多态性与肥厚型心肌病（HCM）发病的关系。方法 对63例HCM患分别用PCR法检测ACE基因插入／缺失和AGT M235T基因多态性。结果 HCM患中ACE DD＋AGT TT基因型的比数比高于单基因型，其心脏事件发生率高于其他基因型组合和AGT TT型。结论 同时具有ACE DD＋AGT TT基因型，较单基因型发生HCM的风险率显增高；同时具有ACE DD＋AGT TT基因型的HCM患发生心脏事件的危险更大。

Linkage analysis of the association of genetic polymorphisms of angiotensin converting enzyme and angiotensinogen M235T with hypertrophic cardiomyopathy

Objective To evaluate the association of the genetic polymorphism of angiotensinogen (AGT) and angiotensin converting enzyme (ACE) with the risk of hypertrophic cardiomyopathy (HCM) in Chinese people. Methods Polymerase chain reaction (PCR) was carried out to detect the polymorphisms of ACE and AGT genes in 63 HCM patients. Results In HCM patients, the odds ratio (OR) estimated by linkage analysis of ACE-DD and AGT-TT genotypes was markedly higher when compared with that estimated separately from the ACE-DD or AGT-TT genotype. The risk of cardiac events was higher in HCM patients with both ACE-DD and AGT-TT genotypes than that in those with other combination of ACE and AGT genotypes and also higher than that in those with AGT-TT genotype only. Conclusions Combination of ACE-DD and AGT-TT genotypes may have synergistic effect on the risk of HCM in Chinese people. The risk of cardiac events was much higher in HCM patients with both ACE-DD and AGT-TT genotypes.