中国人血管紧张素转换酶基因I/D多态性的研究

Polymorphism of angiotensin I/D-converting enzyme gene in the Chinese people

目的:探讨中国人血管紧张素转换酶(angiotensinconvertingenzyme,ACE)基因多态性分布。方法:利用聚合酶链反应(polymerasechainreaction,PCR)方法检测141例正常人和200例高血压患者的ACE基因型,同时检测其血清ACE水平,并对55例未服用过降压药物的高血压患者分别于治疗前及口服卡托普利25mg1h后测定其血清ACE活性的变化。结果:高血压组的I等位基因频率(0.65)显著高于正常对照组(0.57)(P<0.05)。DD型患者ACE活性最高,临床合并症多,预后差。未发现基因型与血管紧张素转换酶抑制剂(angiotensinconvertingenzymein-hibitor,ACEI)疗效有关。结论:①ACEI等位基因可能为中国人原发性高血压的危险因子。②ACE基因缺失多态性与血清ACE活性有关,并增加高血压合并靶器官损害的危险。③ACE基因多态性与ACEI疗效无关。

AIM:To investigate the distribution of I/D polymorphisms of angiotensin converting enzyme(ACE) gene. METHODS:Polymerase chain reaction was used to examine the ACE genotype and measure the serum level of ACE in 141 normotensive controls and 200 hypertensive patients.Serum ACE activity of 55 hypertensives without anti-hypertension agents was also measured before treatment and one hour after oral taking 25 mg captopil. RESULTS:The frequency of I allele in the hypertensive patients was 0.65, significantly higher than that in the normal controls(0.57)(P< 0.05).The hypertensive patients with DD genotype had higher ACE activity,severer clinical complication and worse prognosis than those with II genotype.ACE genotype was not found in relation to the therapeutic efficacy of ACE inhibitor(ACEI). CONCLUSION:①ACEI allele may be a genetic risk factor for essential hypertension in Chinese.②Deletion polymorphism of ACE gene is associated with serum ACE activity and increases the risk of organ damage in hypertension.③I/D polymorphism of ACE gene is not related to the therapeutic efficacy of ACEI in hypertensive patients.