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芬兰人群中的载脂蛋白E多态性:基因频率及其与脂蛋白浓度的关系。

Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations.

作者信息

Ehnholm C, Lukka M, Kuusi T, Nikkilä E, Utermann G

出版信息

J Lipid Res. 1986 Mar;27(3):227-35.

PMID:3734624
Abstract

ApoE phenotypes were determined in 615 unrelated Finnish individuals. The apoE gene frequencies observed (epsilon 2, 0.041; epsilon 3, 0.733; epsilon 4, 0.227) differ significantly from those in other populations. The frequency of the allele epsilon 2 was lower and that of epsilon 4 higher than in all other studied populations. Plasma lipids and apolipoproteins A-I, A-II and B were recorded in 207 of the typed subjects. By comparison with the most frequent homozygous apoE 3/3 phenotype, it was found that total cholesterol, LDL-cholesterol, and apoB concentrations were all markedly higher in apoE 4/4 and to a lesser degree in apoE 4/3 phenotypic groups. On the other hand, these lipid and apolipoprotein levels tended to be lower in E-2 heterozygotes. These data confirm and extend, in a different ethnic group, previous results of an effect of apoE genes on plasma lipoprotein concentrations. The data suggest that the apoE gene locus may be one factor responsible for the high LDL cholesterol concentrations in the Finnish population.

摘要

在615名无血缘关系的芬兰个体中确定了载脂蛋白E(ApoE)表型。观察到的ApoE基因频率(ε2为0.041;ε3为0.733;ε4为0.227)与其他人群的基因频率有显著差异。ε2等位基因的频率低于其他所有研究人群,而ε4的频率高于其他所有研究人群。在207名已分型的受试者中记录了血浆脂质以及载脂蛋白A-I、A-II和B。与最常见的纯合子ApoE 3/3表型相比,发现ApoE 4/4表型组的总胆固醇、低密度脂蛋白胆固醇(LDL-胆固醇)和载脂蛋白B浓度均显著更高,ApoE 4/3表型组的这些指标升高程度较小。另一方面,ε2杂合子的这些脂质和载脂蛋白水平往往较低。这些数据在不同种族群体中证实并扩展了先前关于ApoE基因对血浆脂蛋白浓度影响的结果。数据表明,ApoE基因位点可能是导致芬兰人群低密度脂蛋白胆固醇浓度升高的一个因素。

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