Xu C F, Talmud P J, Angelico F, Del Ben M, Savill J, Humphries S E
Charing Cross Sunley Research Centre, London, UK.
Genet Epidemiol. 1991;8(6):389-98. doi: 10.1002/gepi.1370080605.
We have investigated the effect of apolipoprotein (apo) E polymorphism on serum lipid, lipoprotein, and apolipoprotein levels in a sample of 195 children, aged 8-11 years, from Sezze, Central Italy. The relative frequencies of e2, e3, and e4 alleles were 0.062, 0.867, and 0.072, respectively. Variation at the apo E gene locus explained 5.1% of the sample variance in serum total cholesterol levels, 7.6% in low-density lipoprotein (LDL) cholesterol levels, 7.3% in apo B levels, and 14.1% in high-density lipoprotein-apo E (HDL-E) levels. The effect of the e2 allele was to lower levels of total cholesterol, LDL-cholesterol, and apo B and to raise levels of HDL-E, while the effect of the e4 allele was the opposite. Variation at the apo E gene locus was not associated with differences in serum triglyceride, HDL-cholesterol, or apo AI levels. The effects of common apo E polymorphisms and genetic variation associated with the PvuII RFLP of the apo B gene on serum apo B levels were additive, explaining 11.3% of the phenotypic variance in this sample. When the effect of apo E polymorphism on serum lipid traits was estimated in boys and girls separately, variation at the apo E gene locus explained 10.4, 13.3, 13.3, and 13.5% of the phenotypic variance in serum total cholesterol, LDL-cholesterol, apo B, and HDL-E levels, respectively, in boys, while in girls only the effect on HDL-E levels (19.3%) reached statistical significance. This study has demonstrated that genetic variations at the apo E locus contribute to the determination of serum lipid, lipoprotein, and apolipoprotein levels in youths and that the effects are gender specific.
我们研究了载脂蛋白（apo）E基因多态性对195名来自意大利中部塞泽、年龄在8至11岁儿童样本中血脂、脂蛋白和载脂蛋白水平的影响。e2、e3和e4等位基因的相对频率分别为0.062、0.867和0.072。apo E基因位点的变异解释了血清总胆固醇水平样本方差的5.1%、低密度脂蛋白（LDL）胆固醇水平样本方差的7.6%、apo B水平样本方差的7.3%以及高密度脂蛋白-apo E（HDL-E）水平样本方差的14.1%。e2等位基因的作用是降低总胆固醇、LDL-胆固醇和apo B的水平，并提高HDL-E的水平，而e4等位基因的作用则相反。apo E基因位点的变异与血清甘油三酯、HDL-胆固醇或apo AI水平的差异无关。常见的apo E多态性以及与apo B基因PvuII限制性片段长度多态性（RFLP）相关的基因变异对血清apo B水平的影响是累加性的，解释了该样本中11.3%的表型方差。当分别在男孩和女孩中估计apo E基因多态性对血脂特征的影响时，apo E基因位点的变异分别解释了男孩血清总胆固醇、LDL-胆固醇、apo B和HDL-E水平表型方差的10.4%、13.3%、13.3%和13.5%，而在女孩中，只有对HDL-E水平的影响（19.3%）达到统计学显著水平。这项研究表明，apo E基因位点的遗传变异有助于确定青少年的血脂、脂蛋白和载脂蛋白水平，且这些影响具有性别特异性。
