动脉硬化性脑梗死患者载脂蛋白E基因多态性与血脂、脂蛋白和载脂蛋白的关系

Rclationsbip between Gene Polymorphism of Apolipoprotein E and Serum Lipids,Lipoproteins,and Apolipoproteins in Chinese Patients with Atherothrombotic Brain Infarction

采用聚合酶链反应-限制性片段长度多态性（PCR－RFLP）技术检测50例动脉硬化性脑梗死（ABI）患者和113例正常人戴脂蛋白E（apoE）基因型，并分析apoE基因多态。队与血脂脂蛋白和载脂蛋白之间的关系。结果表明：ABI组ε4/3基因型与ε4等位基因频率分别为30．0％与18．0％，均显著高于正常对照组的11．5％与7.5％（P＜0．01）。apoE基因多态性明显影响血脂水平，不同基因型组间血清总胆固醇（TC）、低密度脂蛋白胆固醇（LDL－C）和载脂蛋白B（apoB）水平有显著性差异，ε4／3组上述3项指标均显著高于ε3／3、ε3／2组。各组间血清甘油三酯（TG）、高密度脂蛋白胆固醇（HDL－C）和载脂蛋白AI（apoAI）水平无明显差异。多元逐步回归与相关分析均证实，ε4等位基因与TC、LDL－C和apoB呈显著正相关。上述结果提示，apoE基因多态性与ABI之间存在着密切关系，ε4等位基因可作为我国汉族人群ABI易感个体的一种遗传标记。

Apolipoprotein E (apoE) genotypes were investigated with the methods of polymerasechain reaction and restriction fragment length polymorphism (PCR-RFLP) in samples of 113unrelated Chinese health individuals and 50 patients with atherothrombotic brain infarction(ABI). The effects of the gene polymorphism of apoE on levels of serum lipids, lipopro-teins, and apolipoproteins were also studied. The results showed that the 4/3 genotype wasmore frequent in ABI cases (30. 0% ) than in control subjects (11. 5%, P<0.01). The fre-quency of the 4 allele in ABI cases (18. 0% ) was significantly higher than in control subjects(7. 5 %, P<0. 01 ). The genetic polymorphism of apoE obviously influenced serum lipid lev-els. The concentrations of TC, LDL-C, and apoB among different genotype groups were sig-nificantly different, which in 4/3 group were higher than in 3/2, 3/3 group. But therewere no significantly difference in the levels of TG, HDL-C, and apoAI. The results anal-ysed by a multiple regression and Spearman rank correlation also demonstrated that the 4 al-lele was associated with high concentrations of serum TC, LDL-L, and apoB. These datasuggest gene polymorphism of apoE was associated with the development of ABI, the 4 al-lele may be a useful genetic marker for ABI in Han Chinese.