Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2.
Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2.
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发表时间：
1982-11
影响因子：
6.5
通讯作者：
J. Breslow;V. I. Zannis;T. SanGiacomo;J. Third;T. Tracy;C. Glueck
中科院分区：
文献类型：
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作者：
J. Breslow;V. I. Zannis;T. SanGiacomo;J. Third;T. Tracy;C. Glueck
在17例III型高脂蛋白血症（III型HLP）患者及其亲属和配偶中测定了临床症状、脂蛋白模式和载脂蛋白E表型。15例（88%）Ⅲ型HLP先证者为E2/2型，2例为E4/2型。在每一个家庭的研究，载脂蛋白E表型遗传是兼容的模型，我们以前提出的载脂蛋白E是在一个单一的遗传基因座与三个共同的等位基因。apoE表型E4/4、E3/3和E2/2分别代表apoE等位基因ε 4、ε 3和ε 2的纯合性，而apoE表型E4/3、E3/2和E4/2分别代表apoE等位基因ε 4/ε 3、ε 3/ε 2和ε 4/ε 2的杂合性。通过apoE表型分析了69名III型HLP先证者亲属的血脂，发现表型之间胆固醇、甘油三酯或HDL胆固醇水平无显著差异。然而，在LDL胆固醇水平上，apoE表型之间存在差异，（P = 0.01）和VLDL胆固醇/总甘油三酯比值（比值）（P 0.25，2例比值>0.30，男性比值（0.28 +/- 0.06）显著大于女性比值（0.17 ± 0.06）（P < 0.01），7例脂蛋白电泳显示β VLDL漂浮。此外，与一般人群中的对照组相比，整个亲属组的胆固醇和HDL胆固醇水平正常，LDL胆固醇水平略低，甘油三酯水平几乎升高了两倍。总之，a）在III型HLP和apoE表型E2/2之间存在非常强的但不是不变的关联，其中一些III型HLP个体具有apoE表型E4/2; B）apoE表型遗传由单个遗传基因座上的三个等位基因决定; c）III型HLP先证者的亲属，无论他们的apoE表型如何，与对照群体相比，平均血浆甘油三酯水平升高近两倍;和d）已经鉴定了具有apoE表型E2/2的非先证者III型HLP个体。作为一个群体，这些个体，特别是男性，表现出表达III型HLP的倾向，但很明显，除了apoE表型E2/2之外，这种疾病的完全表型表达还需要遗传或环境因素。Breslow，J.L.，V. I. Zannis，T. R. SanGiacomo，J. L. H. C.第三，T. Tracy和C. J. Glueck使用apoE表型E2/2作为遗传标记的家族性III型高脂蛋白血症的研究
Clinical symptoms, lipoprotein patterns, and apoE phenotypes were determined in 17 individuals with type III hyperlipoproteinemia (type III HLP) and in their relatives and spouses. The apoE phenotype E2/2 occurred in 15 type III HLP probands (88%) and the apoE phenotype E4/2 was found in 2 probands. In each of the families studied, the apoE phenotype inheritance was compatible with a model we previously proposed in which apoE is determined at a single genetic locus with three common alleles. The apoE phenotypes E4/4, E3/3, and E2/2 represent homozygosity for the apoE alleles epsilon4, epsilon3, and epsilon2, respectively, whereas the apoE phenotypes E4/3, E3/2, and E4/2 represent heterozygosity for the apoE alleles epsilon4/epsilon3, epsilon3/epsilon2, and epsilon4/epsilon2, respectively. Plasma lipids in 69 relatives of type III HLP probands were analyzed by apoE phenotype and revealed no significant differences between phenotypes in the levels of cholesterol, triglyceride, or HDL cholesterol. However, there were differences between the apoE phenotypes in LDL cholesterol levels (P = 0.01) and in the ratio of VLDL cholesterol/total triglyceride (ratio) (P 0.25 and two had ratios >0.30 with the ratios for males (0.28 +/- 0.06) significantly greater than the ratios for females (0.17 +/- 0.06) (P < 0.01), and seven had evidence of floating betaVLDL on lipoprotein electrophoresis. In addition, when compared to a control group in the general population, the whole group of relatives had normal cholesterol and HDL cholesterol levels, slightly low LDL cholesterol levels, and almost twice elevated triglyceride levels. In summary, a) a very strong but not invariate association exists between type III HLP and the apoE phenotype E2/2 with some type III HLP individuals having the apoE phenotype E4/2; b) apoE phenotype inheritance is determined by three alleles at a single genetic locus; c) relatives of type III HLP probands, no matter what their apoE phenotype, have on the average nearly twofold elevated plasma triglyceride levels compared to a control population; and d) non-proband type III HLP individuals with the apoE phenotype E2/2 have been identified. As a group these individuals, particularly the males, show a tendency to express type III HLP, but clearly genetic or environmental factors other than the apoE phenotype E2/2 are required for the full phenotypic expression of this disease.-Breslow, J. L., V. I. Zannis, T. R. SanGiacomo, J. L. H. C. Third, T. Tracy, and C. J. Glueck. Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2.