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.


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*


  • Complement System Proteins