IMR Press / FBL / Volume 18 / Issue 1 / DOI: 10.2741/4088

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article

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

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1 Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
2 Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland
3 Department of Ophthalmology, Medical University of Silesia, University Hospital No5, Ceglana 35, 40-952 Katowice, Poland
4 Department of Haemostasis and Haemostatic Disorders, Medical University of Lodz, Zeromskiego 113, 90-549 Lodz, Poland
Academic Editor:Kai Kaarniranta
Front. Biosci. (Landmark Ed) 2013, 18(1), 80–90; https://doi.org/10.2741/4088
Published: 1 January 2013
(This article belongs to the Special Issue Pathogenetic mechanism of age-related macular degeneration)
Abstract

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.

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