在晚发型散发性人群中，早老素1基因-48CT多态性与阿尔茨海默病无关联。

No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.

作者信息

Araria-Goumidi L, Huguet J B, Lambert J C, Frigard B, Cottel D, Amouyel P, Chartier-Harlin M C

机构信息

Unité INSERM 508, Institut Pasteur de Lille, 1 rue du Pr Calmette, BP 245, F-59019 Lille Cedex, France.

出版信息

J Neural Transm (Vienna). 2002 Jul;109(7-8):1023-7. doi: 10.1007/s007020200085.

DOI:10.1007/s007020200085

PMID:12111439

Abstract

Recently, a polymorphism located in the promoter of the presenilin 1 gene was associated with early-onset Alzheimer disease (EOAD). To determine if this polymorphism is also a risk factor for late-onset Alzheimer's disease (LOAD), we analysed its potential impact in a French population of LOAD patients only. Genotype and allelic distributions of the -48CT polymorphism were similar for controls and AD patients. Our result suggests that this polymorphism may not influence the development of LOAD. Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.

摘要

最近，早老素1基因启动子区的一个多态性与早发型阿尔茨海默病（EOAD）相关。为了确定该多态性是否也是晚发型阿尔茨海默病（LOAD）的危险因素，我们仅在法国的LOAD患者群体中分析了其潜在影响。-48CT多态性的基因型和等位基因分布在对照组和AD患者中相似。我们的结果表明，该多态性可能不会影响LOAD的发病。需要进行其他研究来证实这种关联，即把这种多态性的影响局限于EOAD患者。