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Submitted on January 28, 2005
Accepted on February 23, 2005
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
Jonathan L. Haines 1, Michael A. Hauser 2, Silke Schmidt 2, William K. Scott 2, Lana M. Olson 1, Paul Gallins 2, Kylee L. Spencer 1, Shu Ying Kwan 2, Maher Noureddine 2, John R. Gilbert 2, Nathalie Schnetz-Boutaud 1, Anita Agarwal 3, Eric A. Postel 4, Margaret A. Pericak-Vance 2*
1 Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA. 2 Center for Human Genetics and Department of Medicine, Duke University Medical Center, DUMC Box 3345, 595 LaSalle Street, Durham, NC 27710, USA. 3 Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA. 4 Duke University Eye Center and Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.
* To whom correspondence should be addressed.
Margaret A. Pericak-Vance , E-mail: mpv{at}chg.duhs.duke.edu
Age-related macular degeneration (AMD) is a leading cause ofvisual impairment and blindness in the elderly whose etiologyremains largely unknown. Previous studies identified chromosome1q32 as harboring a susceptibility locus for AMD. Here we usedsingle nucleotide polymorphisms (SNPs) to interrogate this regionand identified a strongly associated haplotype in two independentdata sets. DNA resequencing of the complement factor H gene(CFH) within this haplotype revealed a common coding variant,Y402H, that significantly increases the risk for AMD with oddsratios between 2.45 and 5.57. This common variant likely explains43% of AMD in older adults.
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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
Albert O. Edwards, Robert Ritter, III, Kenneth J. Abel, Alisa Manning, Carolien Panhuysen, and Lindsay A. Farrer (15 April 2005) Science308 (5720), 421.
[DOI: 10.1126/science.1110189] |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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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 »
Dietary antioxidants and primary prevention of age related macular degeneration: systematic review and meta-analysis.
E. W-T Chong, T. Y Wong, A. J Kreis, J. A Simpson, and R. H Guymer (2007)
BMJ
335, 755
|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
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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
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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 »
43% of AMD in older adults.
