Complement factor H and related proteins in age-related macular degeneration.
Age-related macular degeneration (AMD) is the major cause of legal blindness in the industrialized world. Polymorphisms and recently discovered rare mutations of the Complement Factor H gene have been shown to be strongly associated with AMD. The deletion of CFH-related proteins 1 and 3, proteins that share homologous regions with CFH, is found in protective haplotypes. The following is a critical review of the current state of knowledge of the implication of CFH and CFH-related proteins 1 and 3 in AMD.
Inserm, U 968, 75012 Paris, France; Université Pierre-et-Marie-Curie (Paris-6), UMR_S 968, Institut de la vision, 75012 Paris, France; Centre hospitalier national d'ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, 75012 Paris, France.
Bertrand
B
Calippe
Inserm, U 968, 75012 Paris, France; Université Pierre-et-Marie-Curie (Paris-6), UMR_S 968, Institut de la vision, 75012 Paris, France; Centre hospitalier national d'ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, 75012 Paris, France.
Xavier
X
Guillonneau
Inserm, U 968, 75012 Paris, France; Université Pierre-et-Marie-Curie (Paris-6), UMR_S 968, Institut de la vision, 75012 Paris, France; Centre hospitalier national d'ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, 75012 Paris, France. Electronic address: florian.sennlaub@inserm.fr.
Florian
F
Sennlaub
D000375:Aging / Q000502:physiology; D001798:Blood Proteins / Q000235:genetics / Q000502:physiology; D003180:Complement C3b Inactivator Proteins / Q000235:genetics / Q000502:physiology; D017242:Complement Factor H / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000188:drug therapy* / Q000235:genetics
D001798:Blood Proteins; C517621:CFHR1 protein, human; C105970:CFHR3 protein, human; D003180:Complement C3b Inactivator Proteins; D017242:Complement Factor H
Age-related macular degeneration; Complement Factor H; Dégénérescence maculaire liée à l’âge; Facteur complément H; Haplotypes protecteurs; Protective haplotypes