Title: Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
Authors: Bogaert, Elke *
Goris, An *
Van Damme, Philip
Geelen, Veerle
Lemmens, Robin
Van Es, Michael
van den Berg, Leonard H
Sleegers, Kristel
Verpoorten, Nathalie
Timmerman, Vincent
De Jonghe, Peter
Van Broeckhoven, Christine
Traynor, Bryan
Landers, John
Brown, Robert
Glass, Jonathan
Al-Chalabi, Ammar
Shaw, Christopher
Birve, Anna
Andersen, Peter
Slowik, Agnieszka
Tomik, Barbara
Melki, Judith
Robberecht, Wim
Van Den Bosch, Ludo # ×
Issue Date: Feb-2012
Publisher: Elsevier
Series Title: Neurobiology of Aging vol:33 issue:2 pages:418-420
Abstract: Excitotoxicity is thought to play a pathogenic role in amyotrophic lateral sclerosis (ALS). Excitotoxic motor neuron death is mediated through the Ca(2+)-permeable α-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.
ISSN: 0197-4580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Vesalius Research Centre (-)
Laboratory for Neurobiology (Vesalius Research Center)
Laboratory for Neuroimmunology
* (joint) first author
× corresponding author
# (joint) last author

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