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

Elizabeth C. Schramm; Simon J. Clark; Michael P. Triebwasser; Soumya Raychaudhuri; Johanna M. Seddon; John P. Atkinson

doi:10.1016/j.molimm.2014.06.032

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

Elizabeth C. Schramm, Simon J. Clark, Michael P. Triebwasser, Soumya Raychaudhuri, Johanna M. Seddon, John P. Atkinson

Research output: Contribution to journal › Article › peer-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. © 2014 Elsevier Ltd.

Original language	English
Pages (from-to)	118-125
Number of pages	7
Journal	Molecular immunology
Volume	61
Issue number	2
DOIs	https://doi.org/10.1016/j.molimm.2014.06.032
Publication status	Published - 2014

Keywords

Age-related macular degeneration
Alternative pathway
Complement system
Genetic variants

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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. {\textcopyright} 2014 Elsevier Ltd.",

keywords = "Age-related macular degeneration, Alternative pathway, Complement system, Genetic variants",

author = "Schramm, {Elizabeth C.} and Clark, {Simon J.} and Triebwasser, {Michael P.} and Soumya Raychaudhuri and Seddon, {Johanna M.} and Atkinson, {John P.}",

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AU - Schramm, Elizabeth C.

AU - Clark, Simon J.

AU - Triebwasser, Michael P.

AU - Raychaudhuri, Soumya

AU - Seddon, Johanna M.

AU - Atkinson, John P.

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AB - 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. © 2014 Elsevier Ltd.

KW - Age-related macular degeneration

KW - Alternative pathway

KW - Complement system

KW - Genetic variants

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DO - 10.1016/j.molimm.2014.06.032

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SP - 118

EP - 125

JO - Molecular immunology

JF - Molecular immunology

IS - 2

ER -

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

Abstract

Keywords

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