广州市40～65岁居民载脂蛋白E基因多态性与血脂水平的关系

Relationship between Apolipoprotein E Gene Polymorphism and Serum Lipids in Guangzhou Residents Aged 40-65

【目的】探讨载脂蛋白E(apolipoprotein E,ApoE)基因多态性与广州市中老年人群血脂水平的关系,以期为进一步研究提供基础和线索。【方法】采用等位基因特异性多重聚合酶链反应(ARMS-PCR)技术对624名40～65岁广州居民进行ApoE基因多态性检测,分析人群ApoE基因频率分布特点,并比较分析不同ApoE基因型血脂水平的关系。【结果】共检出6种基因型,以E3/3型最为常见,占67.95%,其次是E2/3和E3/4,分别占14.74%和13.62%,E2/4、E4/4和E2/2三种基因型分别占1.76%、1.12%和0.80%;等位基因以ε3分布频率最高,为82.13%,ε2、ε4等位基因频率分别为9.05%和8.81%;男性和女性ApoE基因型分布无差异。ε2等位基因携带者的TC、LDL、ApoB和LDL-C/HDL-C水平显著低于ε3和ε4等位基因携带者(allP<0.05),而ApoA1/ApoB则显著高于ε3、ε4等位基因携带者(P<0.01)。【结论】ε2等位基因携带者的血浆TC、LDL及ApoB水平较低,ε2等位基因有利于个体血脂维持在较理想水平。

[Objective ] To investigate the relationship between apolipoprotein E （ApoE） gene polymorphism and serum lipids in Guangzhou residents （aged 40-65）. [ Method ] The ApoE gene polymorphism of 624 subjects was determined by the method of amplification refractory mutation system polymerase chain reaction （ARMS-PCR）. The frequency distributions of ApoE gene and the relationship between ApoE gene polymorphism and serum lipids were also analyzed. [Result] Six genotypes were detected. E3/3 was the major genotype, accounting for 67.95%; followed by E2/3 and E3/4, accounting for 14.74% and 13.62%, respectively; E2/4, E4/4, and E2/2 accounted for 1.76%, 1.12%, and 0.80%, respectively. And the frequency of alleleε3 was the highest, accounting for 82.13%; ε2 and ε4 accounted for 9.05% and 8.81%, respectively. There was no significant difference in the distribution of ApoE genotypes between men and women. Subjects with ε2 had a significantly lower level of TC, LDL, ApoB, the ratio of LDL ： HDL than those with ε3 and ε4 （all P〈 0.05）, while the ratio of ApoA1 ： ApoB of ε2 group was apparently higher than ε3 group and ε4 group （P〈 0.01）. [Conclusion] Subjects with allele ε2 had a better lipid profile with a lower level of plasma TC, LDL, and ApoB.