| Literature DB >> 20409611 |
Elke Bogaert1, An Goris, Philip Van Damme, Veerle Geelen, Robin Lemmens, Michael A van Es, Leonard H van den Berg, Kristel Sleegers, Nathalie Verpoorten, Vincent Timmerman, Peter De Jonghe, Christine Van Broeckhoven, Bryan J Traynor, John E Landers, Robert H Brown, Jonathan D Glass, Ammar Al-Chalabi, Christopher E Shaw, Anna Birve, Peter M Andersen, Agnieszka Slowik, Barbara Tomik, Judith Melki, Wim Robberecht, Ludo Van Den Bosch.
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.Entities:
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Year: 2010 PMID： 20409611 PMCID： PMC2949683 DOI： 10.1016/j.neurobiolaging.2010.03.007
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673