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Originally published in Science Express on 10 March 2005
Science 15 April 2005:
Vol. 308. no. 5720, pp. 421 - 424
DOI: 10.1126/science.1110189

Reports

Complement Factor H Polymorphism and Age-Related Macular Degeneration

Albert O. Edwards,1{dagger}* Robert Ritter, III,1 Kenneth J. Abel,2 Alisa Manning,3 Carolien Panhuysen,3,6 Lindsay A. Farrer3,4,5,6,7

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.

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.

{dagger} Present address: Institute for Retina Research, 3215 Princess Lane, Dallas, TX 75229, USA.

* To whom correspondence should be addressed. E-mail: albert-edwards{at}swbell.net

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Bringing the genetics of macular degeneration into focus.
J. L. Haines, K. M. Spencer, and M. A. Pericak-Vance (2007)
PNAS 104, 16725-16726
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Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction.
P. J. Coffey, C. Gias, C. J. McDermott, P. Lundh, M. C. Pickering, C. Sethi, A. Bird, F. W. Fitzke, A. Maass, L. L. Chen, et al. (2007)
PNAS 104, 16651-16656
   Abstract »    Full Text »    PDF »
Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.
A. Swaroop, K. E. Branham, W. Chen, and G. Abecasis (2007)
Hum. Mol. Genet. 16, R174-R182
   Abstract »    Full Text »    PDF »
Successful design and conduct of genome-wide association studies.
C. I. Amos (2007)
Hum. Mol. Genet. 16, R220-R225
   Abstract »    Full Text »    PDF »
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
L. Fu, D. Garland, Z. Yang, D. Shukla, A. Rajendran, E. Pearson, E. M. Stone, K. Zhang, and E. A. Pierce (2007)
Hum. Mol. Genet. 16, 2411-2422
   Abstract »    Full Text »    PDF »
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
A. Kanda, W. Chen, M. Othman, K. E. H. Branham, M. Brooks, R. Khanna, S. He, R. Lyons, G. R. Abecasis, and A. Swaroop (2007)
PNAS 104, 16227-16232
   Abstract »    Full Text »    PDF »
SOD2 Knockdown Mouse Model of Early AMD.
V. Justilien, J.-J. Pang, K. Renganathan, X. Zhan, J. W. Crabb, S. R. Kim, J. R. Sparrow, W. W. Hauswirth, and A. S. Lewin (2007)
Invest. Ophthalmol. Vis. Sci. 48, 4407-4420
   Abstract »    Full Text »    PDF »
Structural basis for complement factor H linked age-related macular degeneration.
B. E. Prosser, S. Johnson, P. Roversi, A. P. Herbert, B. S. Blaum, J. Tyrrell, T. A. Jowitt, S. J. Clark, E. Tarelli, D. Uhrin, et al. (2007)
J. Exp. Med. 204, 2277-2283
   Abstract »    Full Text »    PDF »
C-reactive Protein Level and Risk of Aging Macula Disorder: The Rotterdam Study.
S. S. Boekhoorn, J. R. Vingerling, J. C. M. Witteman, A. Hofman, and P. T. V. M. de Jong (2007)
Arch Ophthalmol 125, 1396-1401
   Abstract »    Full Text »    PDF »
Exposure to Chlamydia pneumoniae Infection and Age-Related Macular Degeneration: The Blue Mountains Eye Study.
L. Robman, O. S. Mahdi, J. J. Wang, G. Burlutsky, P. Mitchell, G. Byrne, R. Guymer, and H. Taylor (2007)
Invest. Ophthalmol. Vis. Sci. 48, 4007-4011
   Abstract »    Full Text »    PDF »
Haplotypes Spanning the Complement Factor H Gene Are Protective against Age-Related Macular Degeneration.
K. L. Spencer, M. A. Hauser, L. M. Olson, N. Schnetz-Boutaud, W. K. Scott, S. Schmidt, P. Gallins, A. Agarwal, E. A. Postel, M. A. Pericak-Vance, et al. (2007)
Invest. Ophthalmol. Vis. Sci. 48, 4277-4283
   Abstract »    Full Text »    PDF »
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.
C. L. Thompson, B. E.K. Klein, R. Klein, Z. Xu, J. Capriotti, T. Joshi, D. Leontiev, K. E. Lee, R. C. Elston, and S. K. Iyengar (2007)
Hum. Mol. Genet. 16, 2135-2148
   Abstract »    Full Text »    PDF »
Age-Related Macular Degeneration and Cancer Mortality in the Atherosclerosis Risk in Communities Study.
N. Cheung, A. Shankar, R. Klein, A. R. Folsom, D. J. Couper, T. Y. Wong, and for the Atherosclerosis Risk in Communities (ARIC) (2007)
Arch Ophthalmol 125, 1241-1247
   Abstract »    Full Text »    PDF »
Macular Degeneration: Risk Factors for Progression.
J. L. Wiggs (2007)
Arch Ophthalmol 125, 1264-1265
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