Molecular Genetics of Macular Degeneration

Abstract

Age‐related macular degeneration (AMD) is a complex disease; the presentation and progression of this disease are varied among patients as are risk factors. Genetics substantially influences risk for this disease, and the pursuit of localising genetic risk factors for AMD has been quite successful over the past decade through the application of increasingly sophisticated genomic techniques. To date, researchers have rigorously applied statistical genetic methods to reveal more than 30 genetic loci associated with AMD. Connecting these loci to functional impact on disease aetiology has proved challenging, and a great deal of knowledge remains to be elucidated about this disease in order to understand the molecular mechanisms by which loci influence AMD. We herein review the history of AMD genetics and the currently known AMD genetics loci.

Key Concepts

  • Age‐related macular degeneration is a major cause of blindness worldwide.
  • Age‐related macular degeneration is a complex phenotype.
  • Risk for age‐related macular degeneration is substantially influenced by genetic factors.
  • The CFH and ARMS2/HTRA1 loci are the most predictive genetic indicators of age‐related macular degeneration risk.
  • Statistical genetic analyses have revealed more than 30 genetic loci that influence risk for age‐related macular degeneration.

Keywords: age‐related macular degeneration (AMD); molecular genetics; genomics; CFH; statistical genetics

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How to Cite close
Cooke Bailey, Jessica N, and Haines, Jonathan L(Jul 2016) Molecular Genetics of Macular Degeneration. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0021445]