Superoxide dismutase gene polymorphisms in patients with age-related cataract
Artikel i vetenskaplig tidskrift, 2013

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. MATERIALS AND 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.

single nucleotide polymorphisms

Cataract

oxidative stress

SOD genes

Författare

Dragana Celojevic

Göteborgs universitet

Staffan Nilsson

Göteborgs universitet

Chalmers, Matematiska vetenskaper, matematisk statistik

Anders Behndig

Umeå universitet

Gunnar Tasa

Tartu Ülikool

Erkki Juronen

Tartu Ülikool

Jan-Olof Karlsson

Göteborgs universitet

Henrik Zetterberg

Göteborgs universitet

Anne Petersen

Göteborgs universitet

Madeleine Zetterberg

Göteborgs universitet

Ophthalmic genetics

1744-5094 (eISSN)

Vol. 34 140-145

Ämneskategorier

Oftalmologi

Genetik

DOI

10.3109/13816810.2012.746377

PubMed

23289810