Variation near complement factor I is associated with risk of advanced AMD

Jesen A Fagerness, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly, Johanna M Seddon
European Journal of Human Genetics: EJHG 2009, 17 (1): 100-4
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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