家族性混合型高脂血症与载脂蛋白E基因多态性的研究

Association Between Familial Combined Hyperlipidemia(FCHL) and Apolipoprotein E Polymorphism

目的 家族性混合型高脂血症 (FCHL)是最常见的血脂代谢异常 ,在心肌梗死幸存者中的比例为 10 %～ 2 0 % ,本研究旨在探讨FCHL患者与载脂蛋白E基因多态性的关系。方法 采用聚合酶链反应 -限制性片段长度多态性(PCR RFLP)技术 ,对 16 0例FCHL患者及 32 8例血脂正常对照人群的apoE基因型频率分布进行了分析。 结果 FCHL患者与对照人群apoE基因型ε2ε2 ,ε2ε3,ε2ε4 ,ε3ε3,ε3ε4 ,ε4ε4频率分别为 0 ,0 0 81,0 0 31,0 712 ,0 138,0 0 38和 0 ,0 16 8,0 0 2 4 ,0 6 86 ,0 116 ,0 0 0 6。FCHL患者与对照组apoE基因等位基因ε2、ε3、ε4频率分别为0 0 5 6 ,0 82 1,0 12 3和 0 0 96 ,0 82 8,0 0 76。两组间基因型与等位基因频率分布统计学差异具有显著性 (χ2 =12 94 ,P =0 0 12 ;χ2 =9 0 3,P =0 0 11)。结论 我们的研究提示apoE基因ε4等位基因是影响FCHL血脂表型的一个遗传易患因子。

Objective Familial combined hyperlipidemia(FCHL) is the most common hyperlipidemic disorder with a frequency of 10%～20% in myocardial infarction survivors. The present study is to investigate the relation between FCHL and apoE polymorphism. Methods The apoE gene polymorphism and allele frequencies were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in subjects with FCHL (n160) and individuals without dyslipidemia as control group (n328). Results The frequency distribution of apoE genotypes of ε2 ε2, ε2 ε3, ε2 ε4, ε3 ε3, ε3 ε4, ε4 ε4 was 0, 0.081, 0.031, 0.712, 0.138 and 0.038 in FCHL group, and 0, 0.168, 0.024, 0.686, 0.116 and 0.006 in control group. The alleles frequency of ε2, ε3 and ε4 were 0.056, 0.822 and 0.122 in FCHL patients, compared with control group of 0.096,0.828 and 0.076, respectively. Significant differences in the distribution of apoE genotypes and alleles between FCHL and control groupsχ212.94, P0.012; χ29.03, P0.011 was found. Conclusion\ This study suggests that apoE polymorphism may be one of the genetic susceptible factors affecting the complex FCHL phenotype. ApoE allele ε4 is in association with the lipid phenotype of FCHL.