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Originally published in Science Express on 10 March 2005
Science 15 April 2005:
Vol. 308. no. 5720, pp. 419 - 421
DOI: 10.1126/science.1110359
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Reports

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-Vance2*

Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ~43% of AMD in older adults.

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 3445, 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. E-mail: mpv{at}chg.duhs.duke.edu

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Comprehensive Analysis of the Candidate Genes CCL2, CCR2, and TLR4 in Age-Related Macular Degeneration.
D. D. G. Despriet, A. A. B. Bergen, J. E. Merriam, J. Zernant, G. R. Barile, R. T. Smith, I. A. Barbazetto, S. van Soest, A. Bakker, P. T. V. M. de Jong, et al. (2008)
Invest. Ophthalmol. Vis. Sci. 49, 364-371
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A forest-based approach to identifying gene and gene gene interactions.
X. Chen, C.-T. Liu, M. Zhang, and H. Zhang (2007)
PNAS 104, 19199-19203
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Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling.
D. M. Hornan, S. N. Peirson, A. J. Hardcastle, R. S. Molday, M. E. Cheetham, and A. R. Webster (2007)
Invest. Ophthalmol. Vis. Sci. 48, 5388-5396
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Future Use of Genomics in Coronary Artery Disease.
S. B. Damani and E. J. Topol (2007)
J. Am. Coll. Cardiol. 50, 1933-1940
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Homeostatic Regulation of Photoreceptor Cell Integrity: Significance of the Potent Mediator Neuroprotectin D1 Biosynthesized from Docosahexaenoic Acid The Proctor Lecture.
N. G. Bazan (2007)
Invest. Ophthalmol. Vis. Sci. 48, 4866-4881
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Eliminating Complement Factor D Reduces Photoreceptor Susceptibility to Light-Induced Damage.
B. Rohrer, Y. Guo, K. Kunchithapautham, and G. S. Gilkeson (2007)
Invest. Ophthalmol. Vis. Sci. 48, 5282-5289
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Coding and Noncoding Variants in the CFH Gene and Cigarette Smoking Influence the Risk of Age-Related Macular Degeneration in a Japanese Population.
K. Mori, P. L. Gehlbach, S. Kabasawa, I. Kawasaki, M. Oosaki, H. Iizuka, S. Katayama, T. Awata, and S. Yoneya (2007)
Invest. Ophthalmol. Vis. Sci. 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
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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
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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
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Successful design and conduct of genome-wide association studies.
C. I. Amos (2007)
Hum. Mol. Genet. 16, R220-R225
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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
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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
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