Sci. Aging Knowl. Environ., 16 March 2005
Vol. 2005, Issue 11, p. or5


Complement Factor H Polymorphism and Age-Related Macular Degeneration

Albert O. Edwards, Robert Ritter III, Kenneth J. Abel, Alisa Manning, Carolien Panhuysen, and Lindsay A. Farrer

Abstract: Science 10 March 2005 (10.1126/science.1110189) (Science Express Reports)

Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10–10) was identified within the regulation of complement activation locus and centered over a Tyr402His protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid 402 increased the risk of AMD 2.7-fold and accounts for 50% of the attributable risk of AMD.


Science of Aging Knowledge Environment. ISSN 1539-6150