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[原发性致动脉粥样硬化性血脂异常的遗传学方面]

[Genetic aspects of primary atherogenic dyslipoproteinemia].

作者信息

Turpin G, Bruckert E

机构信息

Service d'Endocrinologie Métabolisme, Hôpital de la Pitité, Paris.

出版信息

C R Seances Soc Biol Fil. 1995;189(5):905-17.

PMID:8673636
Abstract

Large progress have been made in the last 15 years about knowledge of genetic of atherogenic dyslipoproteinemias. The genes of apolipoproteins, lipoprotein receptors and enzymes of lipoprotein metabolism are now located and their structures are known. Many gene defects are described and are responsible of definite diseases such as familial hypercholesterolemia, familial dysbetalipoproteinemia, familial hypoalphalipoproteinemia. Beside this pure genetic disorders, other atherogenic dyslipoproteinemias are result of interactions of genetic and environmental factors. This new physio-pathological approach gives a better comprehension of the clinical features than phenotype classification based on plasma cholesterol and triglycerides levels and lipoprotein electrophoretic pattern.

摘要

在过去15年里,关于致动脉粥样硬化性血脂异常的遗传学知识取得了巨大进展。载脂蛋白、脂蛋白受体和脂蛋白代谢酶的基因现已定位,其结构也已明确。许多基因缺陷已被描述,它们是某些特定疾病的病因,如家族性高胆固醇血症、家族性异常β脂蛋白血症、家族性低α脂蛋白血症。除了这些单纯的遗传性疾病外,其他致动脉粥样硬化性血脂异常是遗传和环境因素相互作用的结果。这种新的生理病理方法比基于血浆胆固醇和甘油三酯水平以及脂蛋白电泳图谱的表型分类能更好地理解临床特征。

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