title: Manganese superoxide dismutase gene coding region polymorphisms lack clinical incidence in general population.
abstract: Two functional polymorphisms within the manganese superoxide dismutase (MnSOD) gene have been reported to lead to increased oxidative stress damage. The MnSOD 58T > C single nucleotide polymorphism (SNP) within exon 3 changes isoleucine to threonine, leading to decreased thermal stability and reduced enzymatic activity in vivo and in vitro. The MnSOD 60C > T polymorphism within exon 3 changes leucine to phenylalanine, rendering the protein sensitive to redox regulation by intracellular thiols. Thus, the goal of this study was to evaluate the 58T > C and 60C > T MnSOD polymorphisms in a large case-control study. Taqman allelic discrimination assays were developed to identify the 58T > C and 60C > T SNPs in exon 3. Two hundred and eight lung cancer cases and 141 controls were evaluated for these two SNPs, and all 349 subjects were of the wild-type homozygous genotype for both 58C and 60T in exon 3. This study suggests that although the 58T > C and 60C > T polymorphisms reduce MnSOD enzymatic activity, these polymorphisms were not identified in the present case-control study population.
authors.affiliation: Department of Surgery, James Graham Brown Cancer Center, University of Louisville School of Medicine, Louisville, KY, USA. Robert.martin@louisville.edu
authors.forename: Robert C G
authors.initials: RC
authors.lastname: Martin
authors.forename: David F
authors.initials: DF
authors.lastname: Barker
authors.forename: Mark A
authors.initials: MA
authors.lastname: Doll
authors.forename: Sharon R
authors.initials: SR
authors.lastname: Pine
authors.forename: Leah
authors.initials: L
authors.lastname: Mechanic
authors.forename: Elise D
authors.initials: ED
authors.lastname: Bowman
authors.forename: Curtis C
authors.initials: CC
authors.lastname: Harris
authors.forename: David W
authors.initials: DW
authors.lastname: Hein
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D004795:Enzyme Stability; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D008175:Lung Neoplasms / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D017931:DNA Primers; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2