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Superoxide dismutase gene polymorphisms in patients with age-related cataract

Dragana Celojevic ; Staffan Nilsson (Institutionen för matematiska vetenskaper, matematisk statistik) ; Anders Behndig ; Gunnar Tasa ; Erkki Juronen ; Jan-Olof Karlsson ; Henrik Zetterberg ; Anne Petersen ; Madeleine Zetterberg
Ophthalmic genetics (1744-5094). Vol. 34 (2013), 3, p. 140-145.
[Artikel, refereegranskad vetenskaplig]

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.

Nyckelord: Cataract, oxidative stress, single nucleotide polymorphisms, SOD genes



Denna post skapades 2013-01-10. Senast ändrad 2015-01-16.
CPL Pubid: 170052

 

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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 biomedicin, avdelningen för medicinsk kemi och cellbiologi (GU)
Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (GU)

Ämnesområden

Genetik
Oftalmologi

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