Variation in complement factor 3 is associated with risk of age-related macular degeneration.
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.
Maller
Julian B
JB
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Fagerness
Jesen A
JA
Reynolds
Robyn C
RC
Neale
Benjamin M
BM
Daly
Mark J
MJ
Seddon
Johanna M
JM
D016022:Case-Control Studies; D003176:Complement C3 / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D012307:Risk Factors
D003176:Complement C3