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GAB2基因多态性在意大利阿尔茨海默病患者中的意义。

Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease.

作者信息

Nacmias Benedetta, Tedde Andrea, Bagnoli Silvia, Cellini Elena, Guarnieri Bianca Maria, Piacentini Silvia, Sorbi Sandro

机构信息

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Firenze, Italy.

出版信息

J Alzheimers Dis. 2009;16(3):513-5. doi: 10.3233/JAD-2009-1005.

Abstract

A common polymorphism (rs2373115) in the GRB-associated binding protein 2 (GAB2) gene has been recently associated with the risk of developing Alzheimer's disease (AD) in 644 apolipoprotein E (ApoE) epsilon4 carriers. In order to assess the involvement of the GAB2 polymorphism in the risk of developing AD, we analyzed the genotype and allele distributions of the GAB2 rs2373115 polymorphism in 579 Italian subjects. Our results support a possible implication of GAB2 genetic variant in AD. However, the observed association was confined to ApoE epsilon4 non-carriers, thus suggesting a possible role of GAB2 as an independent risk factor for AD.

摘要

GRB相关结合蛋白2(GAB2)基因中的一种常见多态性(rs2373115)最近被发现与644名载脂蛋白E(ApoE)ε4携带者患阿尔茨海默病(AD)的风险有关。为了评估GAB2多态性在AD发病风险中的作用,我们分析了579名意大利受试者中GAB2 rs2373115多态性的基因型和等位基因分布。我们的结果支持GAB2基因变异可能参与AD发病。然而,观察到的关联仅限于ApoE ε4非携带者,因此提示GAB2可能作为AD的一个独立风险因素发挥作用。

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