载脂蛋白E基因多态性与脑血管疾病的关系

Relationship of apolipoprotein E gene polymorphism with cerebrovascular disease

目的探讨载脂蛋白E(ApoE)基因多态性与脑血管疾病(Cerebrovascular disease,CVD)的关系。方法应用聚合酶链式反应——限制性片断长度多态性(PCR-RFLP)技术检测CVD患者98例(脑梗死78例,脑出血20例)和90名健康对照的ApoE基因多态性分布特征。应用酶比色法检测血脂水平。结果发现5种ApoE基因型,脑梗死组E3/4基因型频率(23.1%)及ε4频率(14.7%)显著高于对照组(7.8%,5.0%),而E3/3基因型频率(56.4%)及ε3频率(75.6%)显著低于对照组(78.9%,88.3%)。脑出血组的ApoE基因型及基因频率与对照组比较差异无显著性。不同ApoE基因型之间TC和LDL水平差异有统计学意义(P<0.05)。结论发现ApoEε4基因是CI发病的遗传易患因子;而ApoEε3基因则对CI具有保护作用。同时ApoE基因多态性影响血脂水平。

Objective To study the correlation of apolipoprotein E （ApoE）gene polymorphism with cerebrovaseular disease （CVD）. Methods The polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） technique were used to detect ApoE genetype in 98 CVD patients （78 cases of cerebral infarction, 20 cases of brain hemorrhage） and 90 age-matched controls. Results There were five kinds of ApoE genetypes. The frequency of genotype E3/4 was 23.1% and ε4 was 14.7% in the cerebral infarction patients, which was significantly higher than the controls（P〈0. 05）. The frequency of genotype E3/3 was 56.4% and ε3 was 75.6% in cerebral infaretion patients, being significantly lower than controls （P〈0. 05）. There was no significant difference in genotype and gene frequency between brain hemorrhage patients and controls. The serum levels of TC and LDL-C were significantly different in patients with different ApoE genotypes （P 〈 0. 05）. Conclusion The polymorphisms of apolipoprotein E gene have certain effects on cerebral infarction and the serum level of TC and LDL-C.