Complement factor H polymorphism and age-related macular degeneration by Edwards Albert O, Ritter Robert, Abel Kenneth J, Manning Alisa, Panhuysen Carolien, Farrer Lindsay A in Science (New York, N.Y.) (2005).

[PMID: 15761121] PubMed


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 was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.

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