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

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...

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Bibliographic Details
Published in:Molecular immunology 2014-10, Vol.61 (2), p.118-125
Main Authors: Schramm, Elizabeth C, Clark, Simon J, Triebwasser, Michael P, Raychaudhuri, Soumya, Seddon, Johanna, Atkinson, John P
Format: Article
Language:English
Subjects:
Complement System Proteins - genetics
Genetic Predisposition to Disease
Genetic Variation
Humans
Macular Degeneration - genetics
Macular Degeneration - immunology
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Summary: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.
ISSN:0161-5890
1872-9142
DOI:10.1016/j.molimm.2014.06.032