Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration

International Journal of Molecular Sciences

Janusz Blasiak²  Ewelina Synowiec²  Antero Salminen¹ 

[1] Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio FI-70211, Finland; E-Mail:;University of Lodz, Faculty of Biology and Environmental Protection, Department of Molecular Genetics, Pomorska 141/143, Lodz 90-236, Poland; E-Mail:

关键词: age-related macular degeneration;    AMD;    DNA repair;    genetic polymorphism;   

DOI  :  10.3390/ijms131013378

来源: mdpi

【 摘 要 】

The pathogenesis of age-related macular degeneration (AMD) is complex and involves interactions between environmental and genetic factors, with oxidative stress playing an important role inducing damage in biomolecules, including DNA. Therefore, genetic variability in the components of DNA repair systems may influence the ability of the cell to cope with oxidative stress and in this way contribute to the pathogenesis of AMD. However, few reports have been published on this subject so far. We demonstrated that the c.977C>G polymorphism (rs1052133) in the hOGG1 gene and the c.972G>C polymorphism (rs3219489) in the MUTYH gene, the products of which play important roles in the repair of oxidatively damaged DNA, might be associated with the risk of AMD. Oxidative stress may promote misincorporation of uracil into DNA, where it is targeted by several DNA glycosylases. We observed that the g.4235T>C (rs2337395) and c.–32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. These data confirm the importance of the cellular reaction to DNA damage, and this may be influenced by variability in DNA repair genes, in AMD pathogenesis.

【 授权许可】

CC BY   
© 2012 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland.