载脂蛋白E基因多态性与动脉粥样硬化性脑梗塞的关系

The relations between polymorphisms of apolipoprotein E gene and atherosclerotic cerebral infarction

目的探讨载脂蛋白（Ａｐｏ）Ｅ基因多态性与动脉粥样硬化性脑梗塞（ＡＣＩ）的关系。方法用聚合酶链反应（ＰＣＲ）技术检测了中国沈阳籍汉族健康人１００名和ＡＣＩ患者４７例的ＡｐｏＥ基因ＨｈａＩ多态性及血脂、脂蛋白含量。结果ＡＣＩ患者组ＡｐｏＥ基因型ε３／４的频率为２７．７％，明显高于对照组。ＡＣＩ患者组血清低密度脂蛋白胆固醇（ＬＤＬ－Ｃ）、脂蛋白（ａ）［Ｌｐ（ａ）］明显高于对照组，ＡｐｏＡＩ则明显低于对照组。对照组和ＡＣＩ患者组中ＡｐｏＥ基因型ε３／４的血清ＬＤＬ－Ｃ均显著高于ε３／３。结论ＡｐｏＥ基因型ε３／４与ＡＣＩ的发生相关；等位基因ε４可能是ＡＣＩ的一种遗传易感性因子。

Objective To study the relations between the polymorphisms of apolipoprotein E (Apo E) and atherosclerotic cerebral infarction (ACI). Methods The polymerase chain reaction (PCR) technique was used to study the polymorphisms of Apo E gene and allele frequencies in 100 age matched Chinese healthy controls and 47 patients with ACI. The levels of the lipid and lipoproteins were also compared between the cases with ACI and the controls. Results The prevalence of genotype ε3/4 was 27.7% in the ACI group, which was significantly higher than that (12.0%) in the control group ( P <0.05). The serum levels of low density lipoprotein cholesterol (LDL C) and lipoprotein (a) in the ACI group were significantly higher than those in the control group ( P <0.01). The level of LDL C was higher in the group of the controls and ACI with genotype of ε3/4 than in the group with genotype of ε3/3. Conclusion Genotype of ε3/4 may contribute to the development of ACI in Chinese and allele ε 4 seemd to be a genetic susceptible factor in ACI.