No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS |
| |
Authors: | Broom W J Parton M J Vance C A Russ C Andersen P M Hansen V Leigh P N Powell J F Al-Chalabi A Shaw C E |
| |
Affiliation: | Department of Neurology, Institute of Psychiatry, De Crespigny Park, London, UK. |
| |
Abstract: | Mutations in the copper zinc superoxide dismutase gene (SOD1) are found in 20% of familial and 3% of sporadic ALS patients. SOD1 protein aggregation can be detected in motor neurons of mutation-negative sporadic cases but a pathogenic role for wild-type SOD1 in ALS has not been demonstrated. In this study of 233 ALS cases and 248 controls the authors found no significant association between four individual single nucleotide polymorphisms and a deletion spanning the SOD1 locus (or their combined haplotypes), and disease susceptibility, or phenotype. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|