Complement Factor H Polymorphism and Age-Related Macular Degeneration
Top Cited Papers
- 15 April 2005
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 308 (5720) , 421-424
- https://doi.org/10.1126/science.1110189
Abstract
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.Keywords
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