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Complement Factor H Polymorphism and Age-Related Macular Degeneration
Albert O. Edwards,1*Robert Ritter, III,1Kenneth J. Abel,2Alisa Manning,3Carolien Panhuysen,3,6Lindsay A. Farrer3,4,5,6,7
Age-related macular degeneration (AMD) is a common, late-onset,and complex trait with multiple risk factors. Concentratingon a region harboring a locus for AMD on 1q25-31, the ARMD1locus, we tested single-nucleotide polymorphisms for associationwith AMD in two independent case-control populations. Significantassociation (P = 4.95 x 10-10) was identified within the regulationof complement activation locus and was centered over a tyrosine-402 histidine-402 protein polymorphism in the gene encoding complementfactor H. Possession of at least one histidine at amino acidposition 402 increased the risk of AMD 2.7-fold and may accountfor 50% of the attributable risk of AMD.
1 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. 2 Sequenom, Incorporated, 3595 John Hopkins Court, San Diego, CA 92121, USA. 3 Department of Medicine (Genetics Program), Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA. 4 Department of Neurology, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA. 5 Department of Genetics and Genomics, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA. 6 Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA. 7 Department of Epidemiology, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA.
Present address: Institute for Retina Research, 3215 PrincessLane, Dallas, TX 75229, USA.
* To whom correspondence should be addressed. E-mail: albert-edwards{at}swbell.net
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*
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. 
Present address: Institute for Retina Research, 3215 Princess Lane, Dallas, TX 75229, USA.