Genetic Variation of Superoxide Dismutases in Patients with Primary Open-angle Glaucoma
Artikel i vetenskaplig tidskrift, 2014

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.

Oxidative stress

single nucleotide polymorphisms

SOD genes

primary open-angle glaucoma

Författare

Dragana Celojevic

Göteborgs universitet

Staffan Nilsson

Göteborgs universitet

Chalmers, Matematiska vetenskaper, matematisk statistik

Lada Kalaboukhova

Göteborgs universitet

Gunnar Tasa

Tartu Ülikool

Erkki Juronen

Tartu Ülikool

Annica Sjölander

Göteborgs universitet

Henrik Zetterberg

Göteborgs universitet

Madeleine Zetterberg

Göteborgs universitet

Ophthalmic Genetics

1381-6810 (ISSN)

Vol. 35 2 79-84

Ämneskategorier

Oftalmologi

Genetik

DOI

10.3109/13816810.2013.793364

PubMed

23638916