Hsueh W C, Mitchell B D, Hixson J E, Rainwater D L
Southwest Foundation for Biomedical Research, San Antonio, TX, USA.
Ann Epidemiol. 2000 Nov;10(8):524-31. doi: 10.1016/s1047-2797(00)00074-0.
To evaluate the impact of apolipoprotein E (apoE) genotypes on lipoprotein measurements relative to that of other known cardiovascular risk factors in participants of a large population-based family study.
We measured concentrations of apoE, the major constituents of HDL (cholesterol, apoAI), LDL-C (cholesterol and apoB), and fraction of apoE in lipoprotein size classes in 859 participants of the San Antonio Family Heart Study, and then tested the association between the three common apoE genotypes (epsilon2epsilon3, epsilon3epsilon3, and epsilon3epsilon4) and lipoprotein traits using the measured genotype approach to account for residual familial correlations.
Allele frequencies in this population for epsilon2, epsilon3, and epsilon4 were 3.5%, 89.6%, and 6.9%, respectively. As expected, adjusted apoE concentrations were highest in those with epsilon2epsilon3, intermediate in those with epsilon3epsilon3, and lowest in those with epsilon3epsilon4. The concentrations of total cholesterol, LDL-C and apoB were lowest in those with epsilon2epsilon3, intermediate in those with epsilon3epsilon3, and highest in those with epsilon3epsilon4. There was no significant effect of apoE genotypes on triglycerides, HDL-C, or apoAI levels. Compared to subjects with epsilon3epsilon4, subjects with epsilon2epsilon3 had relatively less apoE in LDL and HDL(1), and relatively more in HDL(2) and HDL(3) size fractions. The effect of apoE genotypes was significantly greater on apoB in women than in men. ApoE genotypes accounted for 4.5%, 12.3%, and 4.7% of the total genetic variation in apoB, apoE, and LDL-C, respectively.
ApoE genotypes account for a modest, albeit significant, proportion of phenotypic variation in concentrations of LDL-C, apoB, and apoE, and distributions of apoE among lipoproteins in this population; these genotypes have a greater effect on apoB levels in women than in men.
在一项大型基于人群的家族研究参与者中，评估载脂蛋白E（apoE）基因型对脂蛋白测量值的影响，并与其他已知心血管危险因素的影响进行比较。
我们测量了圣安东尼奥家族心脏研究中859名参与者的apoE浓度、高密度脂蛋白（HDL）的主要成分（胆固醇、apoAI）、低密度脂蛋白胆固醇（LDL-C）（胆固醇和apoB）以及脂蛋白大小类别的apoE比例，然后使用测量基因型方法来考虑残留的家族相关性，测试三种常见apoE基因型（ε2ε3、ε3ε3和ε3ε4）与脂蛋白特征之间的关联。
该人群中ε2、ε3和ε4等位基因频率分别为3.5%、89.6%和6.9%。正如预期的那样，调整后的apoE浓度在ε2ε3基因型者中最高，在ε3ε3基因型者中居中，在ε3ε4基因型者中最低。总胆固醇、LDL-C和apoB浓度在ε2ε3基因型者中最低，在ε3ε3基因型者中居中，在ε3ε4基因型者中最高。apoE基因型对甘油三酯、HDL-C或apoAI水平没有显著影响。与ε3ε4基因型受试者相比，ε2ε3基因型受试者在低密度脂蛋白和HDL(1)中的apoE相对较少，而在HDL(2)和HDL(3)大小部分中的apoE相对较多。apoE基因型对女性apoB的影响显著大于男性。apoE基因型分别占apoB、apoE和LDL-C总遗传变异的4.5%、12.3%和4.7%。
apoE基因型在该人群中占低密度脂蛋白胆固醇、apoB和apoE浓度以及apoE在脂蛋白中分布的表型变异的比例虽小但显著；这些基因型对女性apoB水平的影响大于男性。
