Article
C3 R102G polymorphism increases risk of age-related macular degeneration.
Human molecular genetics - 15 Jun 2008
Spencer Kylee L, Olson Lana M, Anderson Brent M, Schnetz-Boutaud Nathalie, Scott William K, Gallins Paul, Agarwal Anita, Postel Eric A, Pericak-Vance Margaret A, Haines Jonathan L
Abstract excerpt
Inflammation has long been suspected to play a role in the pathogenesis of age-related macular degeneration (AMD). Association of variants in the complement factor H (CFH) and complement factor B (CFB) genes has targeted the search for additional loci to the alternative complement cascade, of which C3 is a major component. Two non-synonymous coding polymorphisms within C3, R102G and L314P, have previously been...
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