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Wydanie 2/2011
str. 45

Polimorfizm g.32373708 G>A genu IRP1 a zwyrodnienie plamki związane z wiekiem

The g.32373708 G>A Polymorphism of the IRP1 Gene and Age-related Macular Degeneration

Ewelina Synowiec¹, Magdalena Pogorzelska¹, Anna Skłodowska², Janusz Błasiak¹, Jerzy Szaflik², Jacek P. Szaflik²

¹ Katedra Genetyki Molekularnej Uniwersytetu Łódzkiego
  Kierownik: prof. dr hab. Janusz Błasiak
² Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
  Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
  Kierownik: prof. dr hab. n. med. Jerzy Szaflik

Summary: Purpose: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly in developed countries. Iron can be involved in the pathogenesis of AMD through the oxidative stress. Iron may catalyze the Haber-Weiss and Fenton reactions converting hydrogen peroxide to free radicals, which can induce cellular damage. Iron homeostasis is controlled by the regulation of the expression of iron-regulatory proteins (IRPs), which can bind iron-responsive elements (IREs) on the mRNA of target proteins. In both iron deficiency and excess, IRP-mediated regulation rapidly restore the physiological cytosolic iron level. We checked for an association between the g.32373708 G>A polymorphism (rs867469) of the IRP1 gene and AMD risk.
Material and Methods: Genotypes were determined in DNA from blood of 192 AMD patients, including 94 with wet and 98 with dry form of the disease and 98 individuals without AMD (controls) by allele-specific oligonucleotide-PCR (ASO-PCR) method.
Results: We observed an association between AMD, dry and wet forms of AMD and the A/A genotype of the polymorphism (OR 3.97, 3.96, 3.99, respectively) and the G/G genotype of the polymorphism (1.94, 1.92, 1.96, respectively). On the other hand, the G/A genotype of the investigated polymorphism of the IRP1 gene reduced the risk of AMD, dry and wet forms of AMD (OR 0.25, 0.26, 0.25, respectively).
Conclusions: The results of the present studies suggest that the g.32373708 G>A polymorphism of the IRP1 gene may be linked with the appearance of AMD in its dry and wet forms.

Słowa kluczowe: zwyrodnienie plamki związane z wiekiem, stres oksydacyjny, reaktywne formy tlenu, żelazo, polimorfizm genetyczny, AMD.

Keywords: age-related macular degeneration, oxidative stress, reactive oxygen species, iron, gene polymorphism, AMD.

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