Article
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Proceedings of the National Academy of Sciences of the United States of America - 17 May 2005
Hageman Gregory S, Anderson Don H, Johnson Lincoln V, Hancox Lisa S, Taiber Andrew J, Hardisty Lisa I, Hageman Jill L, Stockman Heather A, Borchardt James D, Gehrs Karen M, Smith Richard J H, Silvestri Giuliana, Russell Stephen R, Klaver Caroline C W, Barbazetto Irene, Chang Stanley, Yannuzzi Lawrence A, Barile Gaetano R, Merriam John C, Smith R Theodore, Olsh Adam K, Bergeron Julie, Zernant Jana, Merriam Joanna E, Gold Bert, Dean Michael, Allikmets Rando
Abstract excerpt
Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Our previous studies implicated activation of complement in the formation of drusen, the hallmark lesion of AMD. Here, we show that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented...
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