Abstract
A case–control association study for advanced age-related macular degeneration was conducted to explore several regions of interest identified by linkage. This analysis identified a single nucleotide polymorphism just 3′ of complement factor I on chromosome 4 showing significant association (P<10−7). Sequencing was performed on coding exons in linkage disequilibrium with the detected association. No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism.
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Acknowledgements
Funding was provided by the National Institutes of Health grant EY11309; the Foundation Fighting Blindness; the Massachusetts Lions Research Fund; Research to Prevent Blindness; Macular Degeneration Research Fund of the Ophthalmic Epidemiology and Genetics Service, the New England Eye Center, Tufts Medical Center; Center for Inherited Disease Research; and the Broad Institute Center for Genotyping and Analysis (through grant U54 RR020278 from the National Center for Research Resources). We thank AREDS participants and investigators and the EMMES Corporation for their work on the AREDS Genetic Repository. We also thank Daniel Mirel, Brian Galloway (project management); Robb Onofrio, Rob Borowski, Kat Irzene, Tony Rachupka (genotyping/sequencing), David Turner, Meg Parker (sample management); and Chris Cotsapas (bioinformatics).
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Fagerness, J., Maller, J., Neale, B. et al. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet 17, 100–104 (2009). https://doi.org/10.1038/ejhg.2008.140
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DOI: https://doi.org/10.1038/ejhg.2008.140
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