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 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

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

Authors

Elizabeth C Schramm^#¹, Simon J Clark^#², Michael P Triebwasser¹, Soumya Raychaudhuri^{3

4

5

6}, Johanna Seddon^{7

8}, John P Atkinson¹

Affiliations

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Complement System Proteins / genetics*
Genetic Predisposition to Disease*
Genetic Variation*
Humans
Macular Degeneration / genetics*
Macular Degeneration / immunology*

Substances

Complement System Proteins

Abstract

Publication types

MeSH terms

Substances

Grants and funding