Open Access

Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD

Ewelina Synowiec1,Tomasz Sliwinski1,Katarzyna Danisz1,Janusz Blasiak1,Anna Sklodowska2,Dorota Romaniuk3,Cezary Watala4,Jerzy Szaflik2,Jacek P. Szaflik2,*
Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland
Department of Ophthalmology, Medical University of Silesia, University Hospital No5, Ceglana 35, 40-952 Katowice, Poland
Department of Haemostasis and Haemostatic Disorders, Medical University of Lodz, Zeromskiego 113, 90-549 Lodz, Poland
DOI: 10.2741/4088 Volume 18 Issue 1, pp.80-90
Published: 01 January 2013
(This article belongs to the Special Issue Pathogenetic mechanism of age-related macular degeneration)
*Corresponding Author(s):  
Jacek P. Szaflik

Oxidative stress may play a role in the pathogenesis of age-related macular degeneration (AMD). In this study we examined the association between AMD risk and polymorphisms of genes encoding enzymes involved in the generation and removal of iron-mediated oxidation: NQO1 (609C> T, rs1800566), NOS3 (894G>T, rs1799983) and NFE2L2 (28312647A>G, rs6726395). We found that the G/G genotype of the rs6726395 polymorphism was associated with a decreased risk of AMD wet form (OR 0.44) and on the other hand the T allele of the rs1799983 polymorphism increased such risk (OR 1.63). We also observed that the C/C-G/T combined genotype of the rs1800566 and rs1799983 polymorphisms was positively correlated with a reduced risk of AMD as well as of its dry form (OR 0.40 and 0.35). The presence of the G/T-G/G combined genotype of the rs1799983 and rs6726395 polymorphisms decreased the risk of this disease (OR 0.35). The results obtained in our study suggest a potential role of the rs1800566, rs1799983 and rs6726395 polymorphisms in the AMD pathogenesis.

Key words

AMD, Reactive oxygen species, Iron, Gene polymorphism, NQO1, NOS3, NFE2L2 gene

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Ewelina Synowiec, Tomasz Sliwinski, Katarzyna Danisz, Janusz Blasiak, Anna Sklodowska, Dorota Romaniuk, Cezary Watala, Jerzy Szaflik, Jacek P. Szaflik. Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD. Frontiers in Bioscience-Landmark. 2013. 18(1); 80-90.