Utermann G, Pruin N, Steinmetz A
Clin Genet. 1979 Jan;15(1):63-72.
The two autosomal codominant alleles of the Apo E-N/D polymorphism, Apo En and Apo Ed, have a considerable influence on plasma lipid levels and distribution in man. Serum cholesterol levels are highest in phenotype Apo E-N, intermediate in phenotype Apo E-ND, and low in phenotype Apo E-D. Contrary VLDL-cholesterol is highest in phenotype Apo E-D, intermediate in heterozygotes, and lowest in phenotype Apo E-N. Serum-triglyceride, VLDL-triglyceride and the ratio of VLDL-cholesterol/serum-triglyceride are also intermediate in phenotype Apo E-ND between the two opposite homozygous groups. 10% of heterozygous Apo E-ND subjects exhibited a beta-VLDL subfraction compared to 0.8% in phenotype Apo E-N and 100% in Apo E-D. Hence the three phenotypic groups exhibit metabolic differences in vivo, and the gene Apo Ed has a mild dyslipoproteinemic effect even in a single dose. The Apo E-N/D polymorphism may therefore be a major influence on the occurrence of arteriosclerotic vascular disease in man.
载脂蛋白E-N/D多态性的两个常染色体共显性等位基因，即载脂蛋白En和载脂蛋白Ed，对人体血浆脂质水平及分布有相当大的影响。血清胆固醇水平在载脂蛋白E-N表型中最高，在载脂蛋白E-ND表型中居中，而在载脂蛋白E-D表型中最低。相反，极低密度脂蛋白胆固醇在载脂蛋白E-D表型中最高，在杂合子中居中，在载脂蛋白E-N表型中最低。血清甘油三酯、极低密度脂蛋白甘油三酯以及极低密度脂蛋白胆固醇与血清甘油三酯的比值在两个相对的纯合子组之间的载脂蛋白E-ND表型中也居中。10%的载脂蛋白E-ND杂合子受试者表现出β-极低密度脂蛋白亚组分，相比之下，载脂蛋白E-N表型中为0.8%，载脂蛋白E-D表型中为100%。因此，这三个表型组在体内表现出代谢差异，即使单剂量的载脂蛋白Ed基因也有轻度的血脂蛋白异常效应。所以，载脂蛋白E-N/D多态性可能是影响人类动脉粥样硬化性血管疾病发生的一个主要因素。
