Wydanie 1/2007
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
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.
Keywords: age-related macular degeneration, AMD, complement factor H.