载脂蛋白E基因型与家族性阿尔茨海默病：对APP717 Val→Ile突变家族发病年龄的可能影响。

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

作者信息

Nacmias B, Latorraca S, Piersanti P, Forleo P, Piacentini S, Bracco L, Amaducci L, Sorbi S

机构信息

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

出版信息

Neurosci Lett. 1995 Jan 2;183(1-2):1-3. doi: 10.1016/0304-3940(94)11100-w.

DOI:10.1016/0304-3940(94)11100-w

PMID:7746463

Abstract

Recent studies have shown a genetic association of the apolipoprotein E (ApoE) epsilon 4 allele with late onset familial and sporadic Alzheimer's disease (AD). In this study we analysed the possible association of the genetic polymorphism of the ApoE gene with age of onset in Italian familial Alzheimer's disease (FAD) families including two early onset familial Alzheimer's (EOFAD) families with the APP717 Val-->Ile mutation in the amyloid precursor protein (APP) gene on chromosome 21. In none of the FAD families analysed was there a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the epsilon 2 allele delayed the age of onset.

摘要

最近的研究表明，载脂蛋白E（ApoE）ε4等位基因与晚发性家族性和散发性阿尔茨海默病（AD）存在遗传关联。在本研究中，我们分析了ApoE基因的遗传多态性与意大利家族性阿尔茨海默病（FAD）家系发病年龄之间的可能关联，这些家系包括两个早发性家族性阿尔茨海默病（EOFAD）家系，其21号染色体上的淀粉样前体蛋白（APP）基因存在APP717 Val→Ile突变。在所分析的FAD家系中，除了两个发生突变的EOFAD家系中的一个家系（其中ε2等位基因延迟了发病年龄）外，ApoE基因型对发病年龄均无显著影响。