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Updated: May 15, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD
Ewelina Synowiec1, Tomasz Sliwinski, Katarzyna Danisz
1Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland.
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.
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