Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisPolymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
Berg, van den, Leonard H.
Van Broeckhoven, Christine
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
VIB DMG - Neurodegenerative Brain Diseases Group
VIB DMG - Neurogenetics Group
VIB DMG - Peripheral Neuropathies Group
Department of Biomedical Sciences
2012Fayetteville, N.Y., 2012
Neurobiology of aging. - Fayetteville, N.Y.
33(2012):2, p. 418-420
University of Antwerp
Excitotoxicity is thought to play a pathogenic role in amyotrophic lateral sclerosis (ALS). Excitotoxic motor neuron death is mediated through the Ca2+-permeable α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type of glutamate receptors and Ca2+ 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.