Journal article
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, …
Authors
Broom WJ; Greenway M; Sadri-Vakili G; Russ C; Auwarter KE; Glajch KE; Dupre N; Swingler RJ; Purcell S; Hayward C
Journal
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 9, No. 4, pp. 229–237
Publisher
Taylor & Francis
Publication Date
January 2008
DOI
10.1080/17482960802103107
ISSN
2167-8421
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
Age of OnsetAmyotrophic Lateral SclerosisBase SequenceDNA Mutational AnalysisFemaleGene ExpressionGenetic Predisposition to DiseaseGenotypeHomozygoteHumansIrelandMaleMiddle AgedPhenotypePolymorphism, GeneticPromoter Regions, GeneticQuebecRisk FactorsScotlandSequence DeletionSp1 Transcription FactorSuperoxide DismutaseSuperoxide Dismutase-1United States