title: Genetic variants in the complement system predisposing to age-related macular degeneration: a review.
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.
authors.affiliation: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Schramm
authors.affiliation: Centre for Hearing & Vision Research, Institute of Human Development, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Clark
authors.affiliation: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Triebwasser
authors.affiliation: Divisions of Rheumatology and Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.|Partners Center for Personalized Genetic Medicine, Boston, MA, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.|Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
authors.forename: Soumya
authors.initials: S
authors.lastname: Raychaudhuri
authors.affiliation: Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA.|Ophthalmic Epidemiology and Genetics Service, Tufts Medical Center, Boston, MA.
authors.forename: Johanna
authors.initials: J
authors.lastname: Seddon
authors.affiliation: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
authors.forename: John P
authors.initials: JP
authors.lastname: Atkinson
mesh_terms: D003165:Complement System Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000276:immunology*
chemical_list: D003165:Complement System Proteins
keywords: Age-related macular degeneration; Alternative pathway; Complement system; Genetic variants