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载脂蛋白E基因座多态性与冠心病风险的关系。

Polymorphism at the apoprotein-E locus in relation to risk of coronary disease.

作者信息

Cumming A M, Robertson F W

出版信息

Clin Genet. 1984 Apr;25(4):310-3. doi: 10.1111/j.1399-0004.1984.tb01995.x.

Abstract

The frequency of genotypes at the polymorphic locus which codes for Apoprotein-E, an important constituent of very low density serum lipoprotein, has been determined in a random sample of persons between the ages of 45 and 60 years, born in the Grampian Region of North East Scotland. Three alleles, EII, EIII and EIV occur with a frequency of respectively 0.08, 0.77 and 0.15. In a random sample of survivors of myocardial infarction, born in the same region, genotype EIVEIII occurs more and EIIIEII less frequently than expected. Also the mean age at first infarction is lower in men for genotype EIVEIII than for other genotypes. Commonly occurring genotypes at this locus apparently influence the risk of coronary disease. A prospective study is needed to show how the genetic effects are expressed.

摘要

对出生于苏格兰东北部格兰扁地区、年龄在45至60岁之间的人群随机样本,测定了编码极低密度血清脂蛋白重要成分载脂蛋白E的多态性位点的基因型频率。三个等位基因EII、EIII和EIV的出现频率分别为0.08、0.77和0.15。在出生于同一地区的心肌梗死幸存者随机样本中,基因型EIVEIII出现的频率高于预期,而EIIIEII出现的频率低于预期。此外,基因型EIVEIII的男性首次梗死的平均年龄低于其他基因型。该位点常见的基因型显然会影响冠心病风险。需要进行前瞻性研究以表明遗传效应是如何表现的。

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