Manganese superoxide dismutase gene coding region polymorphisms lack clinical incidence in general population.
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.
Martin
Robert C G
RC
Department of Surgery, James Graham Brown Cancer Center, University of Louisville School of Medicine, Louisville, KY, USA. Robert.martin@louisville.edu
Barker
David F
DF
Doll
Mark A
MA
Pine
Sharon R
SR
Mechanic
Leah
L
Bowman
Elise D
ED
Harris
Curtis C
CC
Hein
David W
DW
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
D017931:DNA Primers; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2