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NR. 1 (I)/2007
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Znaczenie
polimorfizmu genów układu dopełniacza w patogenezie zwyrodnienia
plamki związanego z wiekiem
Complement System Genes Polymorphism Role in AMD Pathogenesis
Sławomir Jan Teper1,
Edward Wylęgała1,2
1Oddział Okulistyczny Okręgowego Szpitala Kolejowego
w Katowicach, Samodzielny Publiczny Zakład Opieki Zdrowotnej w
Katowicach
Ordynator: dr hab. n. med. Edward Wylęgała
2Zakład Pielęgniarstwa i Społecznych Problemów
Medycznych, Śląska Akademia Medyczna w Katowicach
Kierownik: dr hab. n. med. Edward Wylęgała |
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| Summary: |
We present the literature
review concerning a role of component genes polymorphism
in pathogenesis of age-related macular degeneration. In
recent years collected genetic data strongly support a
hypothesis of immune system involvement in AMD
development. Complement pathway, important part of
innate immune reaction, is one of suspected key points.
Although it differs among populations, polymorphism of
complement genes influences AMD pathogenesis. Currently
Y402H variant of complement factor H gene is responsible
for major risk in AMD. When Y402H is homozygous and
accompanied by cigarette smoking and another genetic
factor (Ala69Ser gene LOC387715 variant), the risk is
increased of more than 140 times. Complement pathway is
presented, as well as potential mechanisms of functional
changes resulting in disease development. |
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| Key words: |
age-related macular
degeneration, AMD, complement factor H. |
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