title: Genetic polymorphisms of superoxide dismutase in Parkinson's disease.
abstract: Oxidative stress reactions may contribute to the pathogenesis of Parkinson's disease (PD). The superoxide dismutases potentially play significant roles in PD by detoxifying superoxide radical. We developed genomic DNA and cDNA-based sequencing assays to identify genetic variants in the copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes. No genetic variants were detected in the gene encoding SOD1 in DNA from 45 idiopathic PD cases and 49 controls from a population-based case-control study. However, we identified a previously described polymorphism of the mitochondrial targeting sequence consisting of a C47T in exon 2 of SOD2, which results in an alanine to valine substitution. We analyzed this SOD2 variant in DNA from 155 cases and 231 controls from the same study, using an allele-specific fluorogenic 5' nuclease assay, and found no differences in the distributions of allelic frequencies. These results indicate that SOD gene variants do not contribute to PD pathogenesis.
authors.affiliation: Department of Environmental Health, University of Washington, Seattle, Washington 98195-7234, USA.
authors.forename: F M
authors.initials: FM
authors.lastname: Farin
authors.forename: Y
authors.initials: Y
authors.lastname: Hitosis
authors.forename: S E
authors.initials: SE
authors.lastname: Hallagan
authors.forename: J
authors.initials: J
authors.lastname: Kushleika
authors.forename: J S
authors.initials: JS
authors.lastname: Woods
authors.forename: P S
authors.initials: PS
authors.lastname: Janssen
authors.forename: T
authors.initials: T
authors.lastname: Smith-Weller
authors.forename: G M
authors.initials: GM
authors.lastname: Franklin
authors.forename: P D
authors.initials: PD
authors.lastname: Swanson
authors.forename: H
authors.initials: H
authors.lastname: Checkoway
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress / Q000502:physiology; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase