title: Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD.
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.
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland.
authors.forename: Ewelina
authors.initials: E
authors.lastname: Synowiec
authors.forename: Tomasz
authors.initials: T
authors.lastname: Sliwinski
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Danisz
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.forename: Anna
authors.initials: A
authors.lastname: Sklodowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Romaniuk
authors.forename: Cezary
authors.initials: C
authors.lastname: Watala
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D051267:NF-E2-Related Factor 2 / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D018384:Oxidative Stress / Q000235:genetics; D012306:Risk; D012307:Risk Factors
chemical_list: D051267:NF-E2-Related Factor 2; C495635:NFE2L2 protein, human; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; D016660:NAD(P)H Dehydrogenase (Quinone); C447479:NQO1 protein, human