No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS.
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.
Broom
W J
WJ
Department of Neurology, Institute of Psychiatry, De Crespigny Park, London, UK.
Parton
M J
MJ
Vance
C A
CA
Russ
C
C
Andersen
P M
PM
Hansen
V
V
Leigh
P N
PN
Powell
J F
JF
Al-Chalabi
A
A
Shaw
C E
CE
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1