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NR. 1/2010
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Brak zwi±zku miêdzy
polimorfizmem 972G>C genu MUTYH a zwyrodnieniem plamki zwi±zanym
z wiekiem
Lack of Association Between the 972G>C Polymorphism of the MUTYH
Gene and Age-related Macular Degeneration
Ewelina Synowiec1,
Janusz B³asiak1, Anna Sk³odowska2, Jerzy
Szaflik2
1 Katedra Genetyki Molekularnej Uniwersytetu
£ódzkiego
Kierownik: prof. dr hab. Janusz B³asiak
2 Katedra i Klinika Okulistyki II Wydzia³u
Lekarskiego Warszawskiego Uniwersytetu Medycznego
Samodzielny Publiczny Kliniczny Szpital Okulistyczny w
Warszawie
Kierownik: prof. dr hab. n. med. Jerzy Szaflik |
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| 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. |
| Key words: |
age-related macular
degeneration, oxidative stress, reactive oxygen species,
gene polymorphism, AMD. |
| S³owa kluczowe: |
zwyrodnienie plamki
zwi±zane z wiekiem, stres oksydacyjny, reaktywne formy
tlenu, polimorfizm genetyczny, AMD. |
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