期刊
MOLECULAR IMMUNOLOGY
卷 84, 期 -, 页码 65-76出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.molimm.2016.11.016
关键词
Age-related macular degeneration; Complement system; Alternative pathway; Rare genetic variants
资金
- European Research Council under the European Union's Seventh Framework Programme (FP)/ERC Grant [310644]
Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have found both common and rare genetic variants in the complement pathway to play a role in the pathogenesis of AMD. In this review we provide an overview of rare variants identified in AMD patients, and summarize the functional consequences of rare genetic variation in complement genes on the complement system. Finally, we discuss the relevance of this work in light of ongoing clinical trials that study the effectiveness of complement inhibitors against AMD. (C) 2016 The Authors. Published by Elsevier Ltd.
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