Wydanie 2/2011
str. 32

Związek polimorfizmu 44062G>A w genie transferyny z paleniem tytoniu w przebiegu zwyrodnienia plamki związanego z wiekiem (AMD)

The Association of the 44062G>A Polymorphism in the Transferrin Gene and Tobacco Smoking in Age-related Macular Degeneration (AMD)

Daniel Wysokiński1, Anna Skłodowska2, Mariola Dorecka3, Dorota Romaniuk3, 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
3 Katedra i Klinika Okulistyki Śląskiego Uniwersytetu Medycznego
  Kierownik. prof. dr hab. n. med. Wanda Romaniuk


Summary: Purpose: The aim of the study was to evaluate the potential influence of transferrin gene polymorphism 44062G>A as well as environmental factors in AMD prevalence.
Material and Methods: The group of 203 AMD patients – 105 with wet form and 103 with dry was enrolled in the study. The control was sex and age-matched 105 individuals with the exclusion of AMD. The genotyping was performed by PCR-RFLP method on the DNA isolated from venous blood obtained from the subjects.
Results: There is no direct association between the 44062G>A polymorphism of the TF gene and AMD. However, the effect was found in the groups stratified depending on smoking status. Among non-smokers the GG genotype increases the risk of AMD (OR 2.33, p < 0.05) while A allele have protective role (OR 0.43, p < 0.05). Differently, among smokers the GG genotype was found to decrease the risk of AMD (OR 0.33, p < 0.05) and the A allele may enhance the risk of AMD occurrence (OR 3.03, p < 0.05).
Conclusion: As we show, the 44062G>A polymorphism of the transferrin gene may be involved in AMD pathogenesis and such effect is related to smoking habit. Interestingly, tobacco smoking seems to significantly change the effect of the polymorphism. This confirms several previous finding pointing tobacco smoking as one of the most important factor in AMD pathogenesis.

Słowa kluczowe: AMD, polimorfizm genetyczny, toksyczność żelaza, stres oksydacyjny, transferryna.

Keywords: AMD, genetic polymorphism, iron toxicity, oxidative stress, transferring.


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