• Science · Apr 2005

    Complement factor H polymorphism and age-related macular degeneration.

    • Albert O Edwards, Robert Ritter, Kenneth J Abel, Alisa Manning, Carolien Panhuysen, and Lindsay A Farrer.
    • Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center (UTSWMC), 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. albert-edwards@swbell.net
    • Science. 2005 Apr 15; 308 (5720): 421-4.

    AbstractAge-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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