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Wydanie 2/2011
str. 38

Związek polimorfizmu c.977 C>G (Ser326Cys) genu hOGG1 ze zwyrodnieniem plamki związanym z wiekiem

Association Between c.977 C>G Polymorphism of the hOGG1 Gene and Age-related Macular Degeneration

Ewelina Synowiec¹, Urszula Kołodziejska², Maja Waszczyk², Janusz Błasiak¹, 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 a disease that results in progressive and irreversible loss of central vision and is considered as the primary cause of visual impairment, including blindness in the elderly, in industrialized countries. Oxidative stress has been implicated in the pathogenesis of AMD. The hOGG1 gene play an important role in the repair of oxidatively modified DNA in the base excision repair pathway. This gene encodes the 8-oxoguanine DNA glycosylase responsible for the excision of 8-oxoguanine, a mutagenic base byproduct resulting from the exposure to reactive oxygen species (ROS). In the present work we investigated the association between the c.977 C>G polymorphism (rs1052133) of the hOGG1 gene and AMD risk.
Material and Methods: Genotypes were determined in DNA from blood of 200 AMD patients, including 100 with wet and 100 with dry form of the disease and 105 individuals without AMD (controls) by restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) method.
Results: We observed an association between AMD, dry and wet forms of AMD and the C/G genotype and the G allele of the c.972 C>G polymorphism (OR 3.10; 2.32; 2.86; 2.01; 3.36; 2,48 respectively). On the other hand, the C/C genotype and the C reduced the risk of AMD, dry and wet forms of AMD (OR 0.33; 0.43; 0.38; 0,50; 0.29; 0.40 respectively).
Conclusions: Our findings suggest that the c.977 C>G polymorphism of the hOGG1 gene may be associated with both dry and wet AMD.

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

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

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