Authors
Albert O Edwards, Robert Ritter III, Kenneth J Abel, Alisa Manning, Carolien Panhuysen, Lindsay A Farrer
Publication date
2005/4/15
Journal
Science
Volume
308
Issue
5720
Pages
421-424
Publisher
American Association for the Advancement of Science
Description
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 × 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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