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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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RESEARCH ARTICLES
Robert J. Klein, Caroline Zeiss, Emily Y. Chew, Jen-Yue Tsai, Richard S. Sackler, Chad Haynes, Alice K. Henning, John Paul SanGiovanni, Shrikant M. Mane, Susan T. Mayne, Michael B. Bracken, Frederick L. Ferris, Jurg Ott, Colin Barnstable, and Josephine Hoh (15 April 2005) Science308 (5720), 385.
[DOI: 10.1126/science.1109557] |Abstract »|Full Text »|PDF »|Supporting Online Material »
REPORTS
Jonathan L. Haines, Michael A. Hauser, Silke Schmidt, William K. Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, Shu Ying Kwan, Maher Noureddine, John R. Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, and Margaret A. Pericak-Vance (15 April 2005) Science308 (5720), 419.
[DOI: 10.1126/science.1110359] |Abstract »|Full Text »|PDF »|Supporting Online Material »
PERSPECTIVES
Stephen P. Daiger (15 April 2005) Science308 (5720), 362.
[DOI: 10.1126/science.1111655] |Summary »|Full Text »|PDF »
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48, 5315-5319
|Abstract »|Full Text »|PDF »
Bringing the genetics of macular degeneration into focus.
J. L. Haines, K. M. Spencer, and M. A. Pericak-Vance (2007)
PNAS
104, 16725-16726
|Full Text »|PDF »
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.
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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*
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. 
