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Janusz Blasiak, Jerzy Szaflik, Ewelina Synowiec, Marta Chmielewska, Katarzyna Wozniak, Anna Sklodowska, Magdalena Zaras, Jacek P. Szaflik; An Association Between Polymorphism Of The Heme Oxygenase-1 And -2 Genes And AMD. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5245.
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Oxidative stress has been implicated in the pathogenesis of age-related macular degeneration (AMD) and heme oxygenase-1 (HO-1, encoded by the HMOX1 gene) and the closely related heme oxygenase-2 (HO-2, encoded by the HMOX2 gene) are important markers of oxidative stress and its consequences. Therefore, genetic variability of HO-1 and HO-2 might modulate the reaction to oxidative stress and in this way be implicated in the pathogenesis of AMD. In the present work, we investigated the association between AMD and a G → C transversion at 19 in the HMOX1 gene (the 19G>C-HMOX1 polymorphism, rs2071747) and a A → G transition at -42 + 1444 in the HMOX2 gene (the -42+1444 A>G-HMOX2 polymorphism, rs2270363) and its modulation by some environmental factors.
279 patients with AMD and 105 controls were recruited in the study and the polymorphisms were typed by restriction fragment length polymorphism and allele-specific PCR.
We observed an association between dry AMD and the G/A genotype of the -42+1444 A>G-HMOX2 polymorphism (OR 2.72), whereas the G/G genotype reduced the risk of dry AMD (OR 0.41). The G/C genotype and the C allele of the 19 G>C-HMOX1 polymorphism and the G/G genotype and G allele of the -2+1444 A>G-HMOX2 polymorphism were associated with progression of AMD from dry to wet form (OR 4.83, 5.20, 2.55, 1.69, respectively). On the other hand, the G/G genotype and the G allele of the 19 G>C-HMOX1 polymorphism and the A/G genotype and the A allele of the 42+1444 A>G-HMOX2 polymorphism protected against AMD progression (OR 0.19, 0.19, 0.34, 0.59, respectively).
The 19 G>C-HMOX1 and the 42+1444A>G -HMOX2 polymorphisms may be associated with the occurrence and progression of AMD.
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