高血压合并脑梗死患者ACE基因ID多态性分析

The relationship between the hypertensives complicated with brain infarction and insertion/deletion polymorphism of angiotensin converting enzyme gene

探讨血管紧张素转换酶 (ACE)基因插入 缺失 (I D)多态性与高血压合并脑梗死的关系。方法 应用聚合酶链反应 (PCR)方法检测 5 4名正常人、40例高血压但无心脑血管合并症患者和 5 4例高血压合并脑梗死患者的ACE基因型 ,同时检测血清ACE水平。结果 ACE基因I D多态性与高血压无相关关系 ,与偶测血压、体重指数、血脂及载脂蛋白等临床、生化指标亦无相关关系 ,而与血清ACE活性显著相关。高血压合并脑梗死组的ACED等位基因频率 (6 6 .7% )显著高于高血压组 (5 2 .5 % )和对照组 (4 9.1% )。有高血压家族史的高血压合并脑梗死患者的DD基因型频率 (5 0 .0 % )及D等位基因频率 (70 .0 % )显著高于高血压组 (2 3 .1% ,48.1% )和正常对照组 (2 8.6 % ,5 1.2 % )。结论 (1)ACED等位基因频率为高血压合并脑梗死的独立危险因素 ;(2 )ACE基因缺失多态性与血清ACE活性有关 ,并增加高血压合并脑梗死的危险 ;(3)ACE基因缺失型可能为高血压合并脑梗死的遗传因素。

Obejective To identify the insertion/deletion(I/D) polymorphism of angiotensin converting enzyme (ACE) gene in hypertension complicated with brain infarction.Methods ACE genetype was examined by polymerase chain reaction(PCR) in 54 healthy controls,40 hypertentives without cardio cerebrovascular diseases and 54 hypertentives complicated with brain infarction.Their serum ACE levels were measured simultaneously.Results I/D polymorphism of ACE gene did not correlate with hypertension or the clinical and biochemical parmeters such as casual BP,body weight index,blood lipids and apoprotein,but correlated with serum ACE activity.The frequency of deletion allele in hypertensives complicated with brain infarction (66.7%) were higher than at in hypertensives without cardio cerebrovascular diseases (52.5%) and healthy controls (49.1%) (P<0.05 and P<0.01).The frequencies of DD genotype (50.0%) and deletion allele (70.0%) in hypertensives with family history of hypertension and complicated with brain infarction were higher than those in hypertensives without cardio cerebrovascular diseases(23.1%,48.1%) and healthy controls (28.6%,51.2%)(P<0.05,P<0.01).Conclusions (1)The ACE D allele may be an independent risk factor for the development of the hypertension complicated with brain infarction.(2)Deletion polymorphism of ACE gene is associated with serum ACE activity and increase risk of brain infarction in hypertension.(3)The DD genotype is probably an hereditary factor of hypertension complicated with brain infarction.