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Complement Factor H Polymorphism in Age-Related Macular Degeneration
Robert J. Klein,1Caroline Zeiss,2*Emily Y. Chew,3*Jen-Yue Tsai,4*Richard S. Sackler,1Chad Haynes,1Alice K. Henning,5John Paul SanGiovanni,3Shrikant M. Mane,6Susan T. Mayne,7Michael B. Bracken,7Frederick L. Ferris,3Jurg Ott,1Colin Barnstable,2Josephine Hoh7
Age-related macular degeneration (AMD) is a major cause of blindnessin the elderly. We report a genome-wide screen of 96 cases and50 controls for polymorphisms associated with AMD. Among 116,204single-nucleotide polymorphisms genotyped, an intronic and commonvariant in the complement factor H gene (CFH) is strongly associatedwith AMD (nominal P value <10-7). In individuals homozygousfor the risk allele, the likelihood of AMD is increased by afactor of 7.4 (95% confidence interval 2.9 to 19). Resequencingrevealed a polymorphism in linkage disequilibrium with the riskallele representing a tyrosine-histidine change at amino acid402. This polymorphism is in a region of CFH that binds heparinand C-reactive protein. The CFH gene is located on chromosome1 in a region repeatedly linked to AMD in family-based studies.
1 Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA. 2 Department of Ophthalmology and Visual Science, Yale University School of Medicine, 330 Cedar Street, New Haven, CT 06520, USA. 3 National Eye Institute, Building 10, CRC, 10 Center Drive, Bethesda, MD 20892-1204, USA. 4 Biological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA. 5 The EMMES Corporation, 401 North Washington Street, Suite 700, Rockville MD 20850, USA. 6 W. M. Keck Facility, Yale University, 300 George Street, Suite 201, New Haven, CT 06511, USA. 7 Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College Street, New Haven, CT 06520, USA.
* These authors contributed equally to this work.
To whom correspondence should be addressed. E-mail: josephine.hoh{at}yale.edu
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National Emphysema Treatment Trial State of the Art: Genetics of Emphysema.
C. P. Hersh, D. L. DeMeo, and E. K. Silverman (2008)
Proceedings of the ATS
5, 486-493
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Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection.
P. N. Baird, L. D. Robman, A. J. Richardson, P. N. Dimitrov, G. Tikellis, C. A. McCarty, and R. H. Guymer (2008)
Hum. Mol. Genet.
17, 1299-1305
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Association between Complement Factor H Gene Polymorphisms and Neovascular Age-Related Macular Degeneration in Koreans.
N. R. Kim, J. H. Kang, O. W. Kwon, S. J. Lee, J. H. Oh, and H. S. Chin (2008)
Invest. Ophthalmol. Vis. Sci.
49, 2071-2076
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Functional and Structural Implications of the Complement Factor H Y402H Polymorphism Associated with Age-Related Macular Degeneration.
R. J. Ormsby, S. Ranganathan, J. C. Tong, K. M. Griggs, D. P. Dimasi, A. W. Hewitt, K. P. Burdon, J. E. Craig, J. Hoh, and D. L. Gordon (2008)
Invest. Ophthalmol. Vis. Sci.
49, 1763-1770
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Gene-Centric Genomewide Association Study via Entropy.
Y. Cui, G. Kang, K. Sun, M. Qian, R. Romero, and W. Fu (2008)
Genetics
179, 637-650
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Making Genomics Functional: Deciphering the Genetics of Acute Lung Injury.
R. Kamp, X. Sun, and J. G. N. Garcia (2008)
Proceedings of the ATS
5, 348-353
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The Signatures of Autozygosity among Patients with Colorectal Cancer.
M. D. Bacolod, G. S. Schemmann, S. Wang, R. Shattock, S. F. Giardina, Z. Zeng, J. Shia, R. F. Stengel, N. Gerry, J. Hoh, et al. (2008)
Cancer Res.
68, 2610-2621
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Associations of Plasma-Soluble Fas Ligand with Aging and Age-Related Macular Degeneration.
S. Jiang, S. E. Moriarty-Craige, C. Li, M. J. Lynn, J. Cai, D. P. Jones, and P. Sternberg (2008)
Invest. Ophthalmol. Vis. Sci.
49, 1345-1349
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Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration.
A. O. Edwards, D. Chen, B. L. Fridley, K. M. James, Y. Wu, G. Abecasis, A. Swaroop, M. Othman, K. Branham, S. K. Iyengar, et al. (2008)
Invest. Ophthalmol. Vis. Sci.
49, 1652-1659
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Mecamylamine Suppresses Basal and Nicotine-Stimulated Choroidal Neovascularization.
K. Kiuchi, M. Matsuoka, J. C. Wu, R. Lima e Silva, M. Kengatharan, M. Verghese, S. Ueno, K. Yokoi, N. H. Khu, J. P. Cooke, et al. (2008)
Invest. Ophthalmol. Vis. Sci.
49, 1705-1711
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Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.
K. L. Spencer, M. A. Hauser, L. M. Olson, S. Schmidt, W. K. Scott, P. Gallins, A. Agarwal, E. A. Postel, M. A. Pericak-Vance, and J. L. Haines (2008)
Hum. Mol. Genet.
17, 971-977
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Menopausal and Reproductive Factors and Risk of Age-Related Macular Degeneration.
D. Feskanich, E. Cho, D. A. Schaumberg, G. A. Colditz, and S. E. Hankinson (2008)
Arch Ophthalmol
126, 519-524
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A survey of allelic imbalance in F1 mice.
C. D. Campbell, A. Kirby, J. Nemesh, M. J. Daly, and J. N. Hirschhorn (2008)
Genome Res.
18, 555-563
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Inflammation in the pathogenesis of age-related macular degeneration.
A. Kanda, G. Abecasis, and A. Swaroop (2008)
Br. J. Ophthalmol.
92, 448-450
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Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.
I Droz, I Mantel, A Ambresin, M Faouzi, D F Schorderet, and F L Munier (2008)
Br. J. Ophthalmol.
92, 513-517
|Abstract »|Full Text »|PDF »
Interleukin-8 promoter polymorphism -251A/T is a risk factor for age-related macular degeneration.
S V Goverdhan, S Ennis, S R Hannan, K C Madhusudhana, A J Cree, A J Luff, and A J Lotery (2008)
Br. J. Ophthalmol.
92, 537-540
|Abstract »|Full Text »|PDF »
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