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The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Mol Immunol. 2017 04; 84:65-76.MI

Abstract

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.

Authors+Show Affiliations

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: anneke.denhollander@radboudumc.nl.

Pub Type(s)

Journal Article
Review
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

27939104

Citation

Geerlings, Maartje J., et al. "The Complement System in Age-related Macular Degeneration: a Review of Rare Genetic Variants and Implications for Personalized Treatment." Molecular Immunology, vol. 84, 2017, pp. 65-76.
Geerlings MJ, de Jong EK, den Hollander AI. The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment. Mol Immunol. 2017;84:65-76.
Geerlings, M. J., de Jong, E. K., & den Hollander, A. I. (2017). The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment. Molecular Immunology, 84, 65-76. https://doi.org/10.1016/j.molimm.2016.11.016
Geerlings MJ, de Jong EK, den Hollander AI. The Complement System in Age-related Macular Degeneration: a Review of Rare Genetic Variants and Implications for Personalized Treatment. Mol Immunol. 2017;84:65-76. PubMed PMID: 27939104.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment. AU - Geerlings,Maartje J, AU - de Jong,Eiko K, AU - den Hollander,Anneke I, Y1 - 2016/12/06/ PY - 2016/08/15/received PY - 2016/11/12/revised PY - 2016/11/18/accepted PY - 2016/12/13/pubmed PY - 2017/9/12/medline PY - 2016/12/13/entrez KW - Age-related macular degeneration KW - Alternative pathway KW - Complement system KW - Rare genetic variants SP - 65 EP - 76 JF - Molecular immunology JO - Mol Immunol VL - 84 N2 - 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. SN - 1872-9142 UR - https://www.unboundmedicine.com/medline/citation/27939104/The_complement_system_in_age_related_macular_degeneration:_A_review_of_rare_genetic_variants_and_implications_for_personalized_treatment_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0161-5890(16)30255-3 DB - PRIME DP - Unbound Medicine ER -