title: Genetic variation of superoxide dismutases in patients with primary open-angle glaucoma.
abstract: OBJECTIVE
  Oxidative stress has been described as an underlying pathogenetic mechanism in retinal ganglion cell apoptosis, which is a hallmark of primary open-angle glaucoma (POAG). Superoxide dismutases (SODs) are enzymes involved in the protection against oxidative stress by detoxification of superoxide. In this study, we investigated a number of disease-associated single nucleotide polymorphisms (SNPs) in the copper-zinc-containing SOD1 and SOD3, and in the manganese superoxide dismutase SOD2, in POAG patients.
  
  
  METHODS
  The study included 239 patients with POAG and 185 controls, all of Estonian origin, recruited at two ophthalmic clinics in Tartu, Estonia. Eleven SNPs, either functional, disease-associated or tag SNPs in SOD1, SOD2 and SOD3 were genotyped using TaqMan Allelic Discrimination. Haplotype analysis was performed on the SNPs in SOD2.
  
  
  RESULTS
  Using binary logistic regression in an additive model, the rs2842980 SNP in SOD2 was significantly associated with POAG diagnosis (p = 0.03) at a univariate level. None of the studied SNPs showed an association with risk of POAG in a multivariate analysis, including age and current smoking as covariates. Analysis of SOD2 haplotypes did not show any association with risk of POAG.
  
  
  CONCLUSIONS
  If oxidative stress is an important mechanism in POAG-related retinal ganglion cell death, genetic variations in SOD1, SOD2 and SOD3 are not major contributors in the pathogenesis.
authors: Department of Clinical Neuroscience and Rehabilitation/Ophthalmology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Gothenburg , Sweden .
authors: Dragana
authors: D
authors: Celojevic
authors: Staffan
authors: S
authors: Nilsson
authors: Lada
authors: L
authors: Kalaboukhova
authors: Gunnar
authors: G
authors: Tasa
authors: Erkki
authors: E
authors: Juronen
authors: Annica
authors: A
authors: Sjölander
authors: Henrik
authors: H
authors: Zetterberg
authors: Madeleine
authors: M
authors: Zetterberg
mesh_terms: D000368:Aged; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D018384:Oxidative Stress; D016133:Polymerase Chain Reaction; 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