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Submitted on January 25, 2005
Accepted on February 22, 2005
Complement Factor H Polymorphism and Age-Related Macular Degeneration
Albert O. Edwards 1*, Robert Ritter, III 2, Kenneth J. Abel 3, Alisa Manning 4, Carolien Panhuysen 5, Lindsay A. Farrer 6
1 Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA; Present address: Institute for Retina Research, 3215 Princess Lane, Dallas, TX 75229, USA. 2 Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. 3 Sequenom, Inc, 3595 John Hopkins Court, San Diego, CA 92121, USA. 4 Departments of Medicine (Genetics Program) 5 Departments of Medicine (Genetics Program); Departments of 6Biostatistics and 7Epidemiology, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA. 6 Departments of Medicine (Genetics Program); Neurology; and Genetics & Genomics, Boston University School of Medicine and Departments of Biostatistics and Epidemiology, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA.
* To whom correspondence should be addressed.
Albert O. Edwards , E-mail: albert-edwards{at}swbell.net
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 centered over a Tyr402Hisprotein polymorphism in the gene encoding complement factorH. Possession of at least one histidine at amino acid 402 increasedthe risk of AMD 2.7-fold and accounts for 50% of the attributablerisk of AMD.
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[DOI: 10.1126/science.1109557] |Abstract »|Full Text »|PDF »|Supporting Online Material »
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[DOI: 10.1126/science.1110359] |Abstract »|Full Text »|PDF »|Supporting Online Material »
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[DOI: 10.1126/science.1111655] |Summary »|Full Text »|PDF »
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Estimation of Systemic Complement C3 Activity in Age-Related Macular Degeneration.
S. Sivaprasad, T. Adewoyin, T. A. Bailey, S. S. Dandekar, S. Jenkins, A. R. Webster, and N. V. Chong (2007)
Arch Ophthalmol
125, 515-519
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