Variation near complement factor I is associated with risk of advanced AMD
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Updated: Jul 3, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Jesen A Fagerness1, Julian B Maller, Benjamin M Neale
1Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.
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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