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Superoxide dismutase gene polymorphisms in patients with age-related cataract

Journal article
Authors Dragana Celojevic
Staffan Nilsson
Anders Behndig
Gunnar Tasa
Erkki Juronen
Jan-Olof Karlsson
Henrik Zetterberg
Anne Petersen
Madeleine Zetterberg
Published in Ophthalmic genetics
Volume 34
Issue 3
Pages 140-145
ISSN 1744-5094
Publication year 2013
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Department of Mathematical Sciences, Mathematical Statistics
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Pages 140-145
Language en
Links dx.doi.org/10.3109/13816810.2012.74...
Keywords Cataract, oxidative stress, single nucleotide polymorphisms, SOD genes
Subject categories Genetics, Ophthalmology

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. 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.

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Denna text är utskriven från följande webbsida:
http://www.gu.se/english/research/publication/?publicationId=170052
Utskriftsdatum: 2019-09-17