Complement factor H polymorphism and age-related macular degeneration.
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Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA
Complement factor H polymorphism and age-related macular degeneration.
Science. 2005 Apr 15;308(5720):421-4. Epub 2005 Mar 10.
- PubMed ID
- 15761121 [ View in PubMed]
- 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 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.