A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

@article{Hageman2005ACH,
  title={A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.},
  author={G. Hageman and D. H. Anderson and L. Johnson and L. Hancox and Andrew J Taiber and Lisa I Hardisty and J. Hageman and Heather A Stockman and J. Borchardt and K. Gehrs and R. Smith and G. Silvestri and S. Russell and C. Klaver and I. Barbazetto and S. Chang and L. Yannuzzi and G. Barile and J. Merriam and R. T. Smith and A. Olsh and J. Bergeron and J. Zernant and B. Gold and M. Dean and R. Allikmets},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2005},
  volume={102 20},
  pages={
          7227-32
        }
}
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 epithelium. Because previous linkage analyses identified chromosome 1q25-32, which harbors… Expand
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