Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
| Autor: | Philip Van Damme, Christopher Shaw, Veerle Geelen, Peter M. Andersen, An Goris, Elke Bogaert, Ammar Al-Chalabi, Bryan J. Traynor, Kristel Sleegers, Michael A. van Es, Agnieszka Slowik, Ludo Van Den Bosch, Wim Robberecht, Jonathan D. Glass, Barbara Tomik, Christine Van Broeckhoven, Nathalie Verpoorten, Judith Melki, Robert H. Brown, Anna Birve, Peter De Jonghe, John Landers, Robin Lemmens, Leonard H. van den Berg, Vincent Timmerman |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Nonsynonymous substitution
Aging Excitotoxicity AMPA receptor medicine.disease_cause Polymorphism Single Nucleotide Risk Assessment Article Pathogenesis Belgium Risk Factors medicine Prevalence Humans Genetic Predisposition to Disease GRIA2 Receptors AMPA Amyotrophic lateral sclerosis Genetic Association Studies Aged Genetics Aged 80 and over Mutation biology General Neuroscience Amyotrophic Lateral Sclerosis Glutamate receptor Middle Aged medicine.disease nervous system Immunology biology.protein Neurology (clinical) Human medicine Geriatrics and Gerontology Developmental Biology |
| Zdroj: | Neurobiology of aging |
| ISSN: | 0197-4580 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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