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Seven genetic risk factors found to be associated with AMD

An international group of investigators has identified seven new regions of the human genome associated with an increase risk of developing age-related macular degeneration (AMD), a major cause of blindness in older individuals. Thierry Léveillard, Research Director of Inserm at Institut de la Vision (Inserm/UPMC/CNRS), coordinates the European group of the AMD Gene Consortium, an international network representing 18 research groups. These findings were reported online in Nature Genetics on March 3, 2013.


AMD affects the macula, an area of the retina responsible for central vision used for detailed tasks such as reading, identifying objects, recognizing faces and driving. As AMD progresses, these tasks become progressively more difficult and impossible to perform. Although some forms of AMD can be treated if the disease is detected early enough, there is no cure available.

Scientists have shown that age, diet, and smoking influence a person’s risk of developing AMD. Genetics also plays a role. Often hereditary, AMD is more common within certain population groups.

In 2005 researchers discovered that certain variations in the gene for complement factor H - a component of the immune system - are associated with a major risk of developing AMD.

In this new study, the AMD Gene Consortium brought together data from18 research groups to increase the power of the previous analyses. The consortium’s analysis included data from more than 17,100 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without AMD. The current analysis identified seven new genetic regions associated with the disease. As with the previously discovered 12 loci, these seven loci are scattered throughout the genome on many different chromosomes.

"Resolving the challenge posed by the genetic complexity of AMD could be overcome by the combined efforts of all centers in the world working on this blinding disease. The present work is a real demonstration of the strength of the Consortium” explains Thierry Léveillard, Research Director of Inserm at Institut de la Vision (Inserm/UPMC/CNRS), Coordinator of the sub-consortium EU-JHU that associates several research centers in Europe and one in the USA, and has played an important role in this study.

Since 2005, 19 loci were identified to be associated with AMD and implicated in a variety of biological functions, including regulation of the immune system, maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism, and atherosclerosis.

As with other common diseases such as type 2 diabetes, the risk for an individual to develop AMD is probably determined not by one but by several genes. A more detailed analysis of the DNA of the areas surrounding the 19 regions identified by the AMD Gene Consortium could unveil rare genetic variants as significant risk factors for AMD. The discovery of such genes could greatly improve our understanding of the pathogenesis of AMD and point to new therapeutic targets and more effective treatments for AMD.

José-Alain Sahel, Director of Institut de la Vision (Inserm/UPMC/CNRS): "Without the extensive and coordinated clinical characterization carried out in all centers, the identification of these disease markers would remain uncertain. These clinical correlations will soon be of great importance for predictive and personalized medicine.”

Source :
“Seven New Loci Associated with Age-Related Macular Degeneration”
The AMD Gene Consortium
Nature Genetics, 03 mars 2012


Members of the sub-consortium EU-JHU that associates several research centers in Europe and one in the USA:
  • INSERM, U968, Paris, France.
    Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, UMR_S 968, Paris, France.
    CNRS, UMR_7210, Paris, France
  • Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
  • Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France.
  • Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
  • Department of Ophthalmology, Moorfields Eye Hospital, London, UK.
  • Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Department of of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
  • Department of Ocular Biology and Therapeutics, Institute of Ophthalmology, University College London, London, UK.
  • Moorfields Eye Hospital, London, UK.
  • Department of Ophthalmology, University of Bonn, Bonn, Germany.
  • Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France.
  • Center for Human Disease Modeling, Departments of Cell Biology and Pediatrics, Duke University, Durham, NC, USA.
  • Centre National de Génotypage, CEA – IG, Evry, France.
  • Faculty of Medicine, Clinical and Experimental Sciences, University of Southampton, Southampton, UK.
  • Department of Therapeutics, INSERM, U968, Paris, France.
  • Department of Therapeutics, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, France.
  • Department of Therapeutics, CNRS, UMR_7210, Paris, France.
  • Laboratory of Integrative Bioinformatics and Genomics, IGBMC, Illkirch, France.
  • Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
  • Institute of Ophthalmology, University College of London, London, UK.
  • Académie des Sciences – Institut de France, Paris, France.
  • Department of Ophthalmology, Wilmer Eye Institute, Baltimore, MD, USA.
  • Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est, Créteil, France.
  • Departments of Molecular Biology and Genetics, Neuroscience, and Institute of Genetic Medicine, Wilmer Eye Institute, Baltimore, MD, USA.
  • Departments of Molecular Biology and Genetics, Neuroscience, and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Created Thursday, 07 March 2013 Last modified Thursday, 07 March 2013

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