Complement factor H and related proteins in age-related macular degeneration |
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| Authors: | Bertrand Calippe Xavier Guillonneau Florian Sennlaub |
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| Institution: | 1. Inserm, U 968, 75012 Paris, France;2. Université Pierre-et-Marie-Curie (Paris-6), UMR_S 968, Institut de la vision, 75012 Paris, France;3. Centre hospitalier national d’ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, 75012 Paris, France |
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| Abstract: | 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. |
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| Keywords: | Age-related macular degeneration Complement Factor H Protective haplotypes |
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