Wydanie 1/2010
str. 50

Genetyczne czynniki ryzyka zachorowania na zwyrodnienie plamki związane z wiekiem

Genetic Risk Factors of the Age-related Macular Degeneration

Małgorzata Figurska, Łukasz Kołodziejski, Jacek Robaszkiewicz

Klinika Okulistyki Wojskowego Instytutu Medycznego w Warszawie Kierownik: prof. dr hab. n. med. Andrzej Stankiewicz


Summary: Age-related macular degeneration (AMD) is a disease occurring in age over 50 and it?s the major cause of irreversible vision loss in the developed countries. Advanced stages of AMD lead to total central vision loss. Researches show that AMD is a complex disease, caused by actions and interactions of multiple genes and environmental factors. Familial occurrence especially in twins has provided strong evidence for the AMD heritability. Genetic researches are conducted to localize the disease-causing genes. Genome scans have implicated signals residing on 1q25-31 and 10q26. Association studies have indentified a major risk variant within the complement factor H gene (CFH), and recent reports suggest that PLEKHA1/LOC387715 and the BF/C2 regions may be major risk loci for AMD as well. Among these, apolipoprotein E (APOE) may be a minor risk locus. Future studies should indentify additional genes responsible for AMD development and explain potential genes to genes and genes to environmental factors interactions.

Słowa kluczowe: zwyrodnienie plamki związane z wiekiem, genetyka, dziedziczność, powiązanie, plamka, siatkówka

Keywords: age-related macular degeneration (AMD), genetics, heritability, linkage, macula, retina


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