Wydanie 1/2010
str. 75

Brak związku między polimorfizmem 972G>C genu MUTYH a zwyrodnieniem plamki związanym z wiekiem

Lack of Association Between the 972G>C Polymorphism of the MUTYH Gene and Age-related Macular Degeneration

Ewelina Synowiec1, Janusz Błasiak1, Anna Skłodowska2, Jerzy 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 blindness among people over 50 years in developed countries and the incidence is expected to triple by the year 2020. Oxidative stress has been implicated in the pathogenesis of AMD. The MUTYH gene play an important role in repair of oxidatively damaged DNA in the base excision repair pathway. This gene encodes a DNA glycosylase, which excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with 8-oxoguanine, a major oxidative DNA lesion. We checked for an association between the 972G>C (Gln324His, rs3219489) polymorphism of the base excision repair gene MUTYH and AMD risk. Material and Methods: Genotypes were determined in DNA from peripheral blood lymphocytes of 275 AMD patients, 175 with wet and 100 with dry form of the disease and 101 sex- and age- matched healthy individuals. The polymerase chain reaction with confronting two-pair primers was used to determine the genotypes of the 972G>C polymorphism of the MUTYH gene. The amplification of allele-specific DNA products of different lengths by using the four primers (two pairs) into one tube containing an ordinarily prepared PCR mixture enables genotyping. Results: The results did not show any association between studied polymorphism of the MUTYH gene and AMD risk. Conclusions: Our findings suggest that the c.972G>C polymorphism of the MUTYH gene may not be linked with appearance and development of AMD in its dry and wet forms.

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