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Genetic Variation of Superoxide Dismutases in Patients with Primary Open-angle Glaucoma

Dragana Celojevic ; Staffan Nilsson (Institutionen för matematiska vetenskaper, matematisk statistik) ; Lada Kalaboukhova ; Gunnar Tasa ; Erkki Juronen ; Annica Sjölander ; Henrik Zetterberg ; Madeleine Zetterberg
Ophthalmic Genetics (1381-6810). Vol. 35 (2014), 2, p. 79-84.
[Artikel, refereegranskad vetenskaplig]

Abstract Purpose: 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.

Nyckelord: Oxidative stress, primary open-angle glaucoma, single nucleotide polymorphisms, SOD genes



Denna post skapades 2014-01-20. Senast ändrad 2015-01-19.
CPL Pubid: 192862

 

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Institutioner (Chalmers)

Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering (2006-2016)
Institutionen för matematiska vetenskaper, matematisk statistik (2005-2016)
Institutionen för vårdvetenskap och hälsa (GU)
Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (GU)

Ämnesområden

Genetik
Oftalmologi

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