title: Superoxide dismutase gene polymorphisms in patients with age-related cataract.
abstract: BACKGROUND
  Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and manganese superoxide dismutase, SOD-2, are enzymes involved in the protection against oxidative stress and detoxification of superoxide. In this study, we investigated a number of disease-associated single nucleotide polymorphisms (SNPs) of SOD1, SOD2 and SOD3, in patients with age-related cataract.
  
  
  METHODS
  The study included an Estonian sample of 492 patients with age-related cataract, subgrouped into nuclear, cortical, posterior subcapsular and mixed cataract, and 185 controls. Twelve SNPs in SOD1, SOD2 and SOD3 were genotyped using TaqMan Allelic Discrimination. Haplotype analysis was performed on the SNPs in SOD2.
  
  
  RESULTS
  None of the studied SNPs showed an association with risk of cataract. These results were consistent after adding known risk factors (age, sex and smoking) as covariates in the multivariate analyses and after stratification by cataract subtype. Analysis of SOD2 haplotypes did not show any associations with risk of cataract.
  
  
  CONCLUSIONS
  If genetic variation in genes encoding SOD-1, SOD-2 and SOD-3 contributes to cataract formation, there is no major contribution of the SNPs analyzed in the present study.
authors.affiliation: Department of Clinical Neuroscience and Rehabilitation/Ophthalmology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
authors.forename: Dragana
authors.initials: D
authors.lastname: Celojevic
authors.forename: Staffan
authors.initials: S
authors.lastname: Nilsson
authors.forename: Anders
authors.initials: A
authors.lastname: Behndig
authors.forename: Gunnar
authors.initials: G
authors.lastname: Tasa
authors.forename: Erkki
authors.initials: E
authors.lastname: Juronen
authors.forename: Jan-Olof
authors.initials: JO
authors.lastname: Karlsson
authors.forename: Henrik
authors.initials: H
authors.lastname: Zetterberg
authors.forename: Anne
authors.initials: A
authors.lastname: Petersen
authors.forename: Madeleine
authors.initials: M
authors.lastname: Zetterberg
mesh_terms: D000368:Aged; D000375:Aging / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D000099156:Superoxide Dismutase 2
chemical_list: D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D000099156:Superoxide Dismutase 2; C000606290:SOD1 protein, human; C441642:SOD3 protein, human