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Mol Immunol. 2014 Oct;61(2):118-125. doi: 10.1016/j.molimm.2014.06.032. Epub 2014 Jul 15.

Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Author information

1
Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
2
Centre for Hearing & Vision Research, Institute of Human Development, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
3
Divisions of Rheumatology and Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
4
Partners Center for Personalized Genetic Medicine, Boston, MA, USA.
5
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
6
Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
7
Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA.
8
Ophthalmic Epidemiology and Genetics Service, Tufts Medical Center, Boston, MA.
#
Contributed equally

Abstract

Age-related macular degeneration (AMD) is a major cause of visual impairment in the western world. It is characterized by the presence of lipoproteinaceous deposits (drusen) in the inner layers of the retina. Immunohistochemistry studies identified deposition of complement proteins in the drusen as well as in the choroid. In the last decade, genetic studies have linked both common and rare variants in genes of the complement system to increased risk of development of AMD. Here, we review the variants described to date and discuss the functional implications of dysregulation of the alternative pathway of complement in AMD.

KEYWORDS:

Age-related macular degeneration; Alternative pathway; Complement system; Genetic variants

PMID:
25034031
PMCID:
PMC4149817
DOI:
10.1016/j.molimm.2014.06.032
[Indexed for MEDLINE]
Free PMC Article

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