Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

被引：3

作者：

Bogaert, Elke ^{[1
,2
]}

Goris, An ^{[3
]}

Van Damme, Philip ^{[1
,2
]}

Geelen, Veerle ^{[1
,2
]}

Lemmens, Robin ^{[1
,2
]}

van Es, Michael A. ^{[4
]}

van den Berg, Leonard H. ^{[4
]}

Sleegers, Kristel ^{[5
,6
]}

Verpoorten, Nathalie ^{[6
,7
]}

Timmerman, Vincent ^{[6
,7
]}

De Jonghe, Peter ^{[6
,8
,9
]}

Van Broeckhoven, Christine ^{[5
,6
]}

Traynor, Bryan J. ^{[10
]}

Landers, John E. ^{[11
]}

Brown, Robert H., Jr. ^{[11
]}

Glass, Jonathan D. ^{[12
]}

Al-Chalabi, Ammar ^{[13
]}

Shaw, Christopher E. ^{[13
]}

Birve, Anna ^{[14
]}

Andersen, Peter M. ^{[14
]}

Slowik, Agnieszka ^{[15
]}

Tomik, Barbara ^{[15
]}

Melki, Judith ^{[16
,17
]}

Robberecht, Wim ^{[1
,2
,18
]}

Van Den Bosch, Ludo ^{[1
,2
]}

机构：

[1] Univ Louvain, Neurobiol Lab, Louvain, Belgium

[2] VIB, Vesalius Res Ctr, Louvain, Belgium

[3] Univ Louvain, Sect Expt Neurol, Lab Neuroimmunol, Louvain, Belgium

[4] Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands

[5] VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium

[6] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium

[7] VIB, Peripheral Neuropathy Grp, Dept Mol Genet, Antwerp, Belgium

[8] VIB, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium

[9] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[10] NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, Bethesda, MD 20892 USA

[11] Univ Massachusetts, Sch Med, Cecil B Day Lab Neuromuscular Res, Worcester, MA USA

[12] Emory Univ, Dept Neurol, Atlanta, GA 30322 USA

[13] Kings Coll London, MRC Ctr Neurodegenerat Res, Inst Psychiat, Dept Clin Neurosci, London WC2R 2LS, England

[14] Umea Univ, Inst Clin Neurosci, Umea, Sweden

[15] Jagiellonian Univ, Dept Neurol, Krakow, Poland

[16] INSERM, U788, F-94275 Le Kremlin Bicetre, France

[17] Univ Paris 11, Le Kremlin Bicetre, France

[18] Univ Louvain, Univ Hosp Leuven, Dept Neurol, Louvain, Belgium

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 02期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

Amyotrophic lateral sclerosis; Excitotoxicity; GluR2; Motor neuron;

D O I：

10.1016/j.neurobiolaging.2010.03.007

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Excitotoxicity is thought to play a pathogenic role in amyotrophic lateral sclerosis (ALS). Excitotoxic motor neuron death is mediated through the Ca(2+)-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type of glutamate receptors and Ca(2+) permeability is determined by the GluR2 subunit. We investigated whether polymorphisms or mutations in the GluR2 gene (GRIA2) predispose patients to ALS. Upon sequencing 24 patients and 24 controls no nonsynonymous coding variants were observed but 24 polymorphisms were identified, 9 of which were novel. In a screening set of 310 Belgian ALS cases and 794 healthy controls and a replication set of 3157 cases and 5397 controls from 6 additional populations no association with susceptibility, age at onset, or disease duration was observed. We conclude that polymorphisms in the GluR2 gene (GRIA2) are not a major contributory factor in the pathogenesis of ALS. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：418 / 420

页数：3