Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 1, Pages 100-104Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.140
Keywords
AMD; macular degeneration; genetic association; complement pathway
Funding
- National Institutes of Health [EY11309]
- Foundation Fighting Blindness
- Massachusetts Lions Research Fund
- Research to Prevent Blindness
- Macular Degeneration Research Fund
- Ophthalmic Epidemiology and Genetics Service
- New England Eye Center
- Tufts Medical Center
- enter for Inherited Disease Research
- Broad Institute Center for Genotyping and Analysis [U54 RR020278]
- National Center for Research Resources
- NATIONAL CENTER FOR RESEARCH RESOURCES [U54RR020278] Funding Source: NIH RePORTER
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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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