Association study of the ubiquilin gene with Alzheimer's disease

被引：26
作者：
Bensemain, Faiza
Chapuis, Julien
Tian, Jinzhou
Shi, Jing
Thaker, Uma
Lendon, Corinne
Iwatsubo, Takeshi
Amouyel, Philippe
Mann, David
Lambert, Jean-Charles
机构：
[1] Univ Lille 2, Inst Pasteur Lille, INSERM, U744, F-5019 Lille, France
[2] Beijing Univ Chinese Med, Dongzhimen Hosp, Dept Care Elderly, Beijing 100700, Peoples R China
[3] Hope Hosp, Greater Manchester Neurosci Ctr, Clin Neurosci Res Grp, Salford M6 8HD, Lancs, England
[4] Univ Birmingham, Queen Elizabeth Psychiat Hosp, Div Neurosci, Dept Mol Psychiat, Birmingham B15 2QZ, W Midlands, England
[5] Univ Tokyo, Dept Neuropathol & Neurosci, Tokyo 113, Japan
来源：
NEUROBIOLOGY OF DISEASE | 2006年 / 22卷 / 03期
关键词：
Alzheimer; ubiquilin; polymorphism; genetic determinant; splicing;
D O I：
10.1016/j.nbd.2006.01.007
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Recently, the ubiquilin 1 gene has been proposed as a major candidate gene for AD. Here, we have investigated the potential impact of the UBQ-8i polymorphism (rs12344615) within this gene on the risk of developing AD. No association of this polymorphism with the disease was observed in a large French case-control population. Furthermore, no relationship between this polymorphism and A load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected. (c) 2006 Elsevier Inc. All rights reserved.
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收藏
页码：691 / 693
页数：3
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