Complement factor H and related proteins in age-related macular degeneration

详细信息    查看全文

• 作者：Bertrand Calippe^a ; ^b ; ^c ; Xavier Guillonneau^a ; ^b ; ^c ; Florian Sennlaub^a ; ^b ; ^c ; ^{florian.sennlaub@inserm.fr" class="auth_mail}
• 关键词：Age-related macular degeneration ; Complement Factor H ; Protective haplotypes
• 刊名：Comptes Rendus Biologies
• 出版年：March, 2014
• 年：2014
• 卷：337
• 期：3
• 页码：178-184
• 全文大小：378 K

文摘

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.