载脂蛋白E基因变异与颈动脉粥样硬化及血脂的关系

The association of genetic variants in apolipoprotein E with blood lipids and carotid atherosclerosis

目的探讨颈动脉粥样硬化(CAS)与载脂蛋白E(apoE)基因多态性的关系。方法采用聚合酶链反应一限制性长度多态技术(PCR-RFLP)检测103例CAS患者和108例健康对照者的apoE的基因型及等位基因分布频率,同时检测其血脂水平。结果CAS组apoE基因型E2/2、E2/3、E2/4、E3/3、E3/4和E4/4的频率分别为0%、11.7%、1.9%、47.6%、35.6%和2.9%,apoE等位基因ε2、ε3和ε4的频率依次为5.8%、66.0%和28.2%;而对照组相应基因频率分别为2.8%、16.7%、0.9%、65.7%、13.9%、0和9.3%、82.4%、8.3%;两组之间的差异均有统计学意义(P<0.05)。与对照组比较,CAS组apoE基因E3/4和等位基因ε4的频率明显增高,而E3/3、ε3的频率则明显降低(P<0.05)。结论apoE等位基因ε4在CAS患者中出现的频率显著增高,很可能是引发CAS的潜在危险因子。

Objective TO investigate the association of polymorphism in apolipoprotein E （ApoE） with blood lipids and carotid atherosclerosis （CAS）. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method was performed to analyze the genotypes of apolipoprotein E in 103 patients with CAS and 108 healthy subjects. The blood lipids were also measured in patients and controls. Results In CAS group,the frequencies of E2/2, E2/3, E2/4, E3/3, E3/4, E4/4 genotypes and ε 2, ε 3, ε 4 alleles for ApoE gene were 0%, 11.7%, 1.9%, 47.6%, 35.6%, 2.9% and 5.8%, 66.0%, 28.2% respectively;and those of healthy controls were 2.8%, 16.7%, 0.9%, 65.7%, 13.9%, 0% and 9.3%, 82.4%, 8.3%, the differences between two groups were statistically significant （P 〈0.05）. Compared with control group, the frequencies of E3/4 genotype and ε 4 allele were higher, and those of E3/3 genotype and ε 3 allele were lower in CAS group （both P 〈 0.05）. Conclusion Polymorphisms of ApoE gene might be a risk factor for CAS.