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Mol Immunol DOI:10.1016/j.molimm.2014.06.032

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

Publication TypeJournal Article
Year of Publication2014
AuthorsSchramm, EC, Clark, SJ, Triebwasser, MP, Raychaudhuri, S, Seddon, JM, Atkinson, JP
JournalMol Immunol
Date Published2014 Oct
KeywordsComplement System Proteins, Genetic Predisposition to Disease, Genetic Variation, Humans, Macular Degeneration

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.


Alternate JournalMol. Immunol.
PubMed ID25034031
PubMed Central IDPMC4149817
Grant ListMR/K004441/1 / / Medical Research Council / United Kingdom
MR/K024418/1 / / Medical Research Council / United Kingdom
R01-EY11309 / EY / NEI NIH HHS / United States
R01 GM099111 / GM / NIGMS NIH HHS / United States
P30 AR048335 / AR / NIAMS NIH HHS / United States
R01 EY011309 / EY / NEI NIH HHS / United States
P30AR48335 / AR / NIAMS NIH HHS / United States
U54 HL112303 / HL / NHLBI NIH HHS / United States
R01 AI041592 / AI / NIAID NIH HHS / United States