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The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

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

  1. European Research Council under the European Union's Seventh Framework Programme (FP)/ERC Grant [310644]

向作者/读者索取更多资源

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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