Abstract
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.
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Acknowledgements
We thank the participants, their families and numerous ophthalmologists throughout the country who participated in this study. We particularly thank D. Mirel and the National Center for Research Resources Broad Institute Center for Genotyping and Analysis for expert design and execution of the SNP genotyping reported herein. We also thank AREDS participants and investigators and the EMMES Corporation for their work on the AREDS Genetic Repository. Funding support for AREDS was provided by the National Eye Institute (N01-EY-0-2127). This research was supported by the NIH (grant EY11309); the Foundation Fighting Blindness; the Massachusetts Lions Research Fund; the Macular Degeneration Research Fund of the Ophthalmic Epidemiology and Genetics Service, the New England Eye Center, Tufts-New England Medical Center; and the Broad Institute Center for Genotyping and Analysis (through grant U54 RR020278 from the National Center for Research Resources).
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J.M.S. and R.C.R. collected clinical information. J.M.S. obtained the funding and samples and is an AREDS co-investigator. J.B.M. and J.A.F. analyzed the data with contributions from B.M.N., under the supervision of M.J.D. J.B.M., M.J.D. and J.M.S. wrote the paper with contributions from J.A.F. M.J.D. and J.M.S. jointly supervised this study.
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Maller, J., Fagerness, J., Reynolds, R. et al. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 39, 1200–1201 (2007). https://doi.org/10.1038/ng2131
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DOI: https://doi.org/10.1038/ng2131
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