Advances in the Understanding of the Genetics of AMD

01 October 2013

Scientists working on the genetics of age-related macular degeneration (AMD – the commonest cause of blindness in Europe and North America) have identified a new rare gene variant that predisposes people to the condition.

Professor John Yates, Prof Tony Moore and Dr Valentina Cipriani from the National Institute of Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology were part of an international group of researchers involved in the a study of over 2,000 patients with the disorder. The researchers sequenced DNA from 10 regions of the genome that had been previously linked to AMD and identified two rare variants in the complement factor 3 (C3) gene that are associated with an increased risk of developing the condition.

In an earlier study in collaboration with Cambridge University, Professors Yates and Moore, were the first to identify the role of the C3 gene in the predisposition to AMD. The findings of the current multicentre study confirm the key importance of C3 and the role of the complement system and inflammation in general in the pathogenesis of AMD.

Dr Dolores Conroy Director of Research for Fight for Sight said: “These findings add to our growing understanding of the genetics of age-related macular degeneration and provide conclusive evidence that the complement pathway has a key role in the pathogenesis of this common and debilitating condition”.

A total of 50 researchers based in over 30 international institutions worked on the study which was supported by funding from a number of organisations including the National Eye Institute and National Human Genome Research Institute in the United States and in the United Kingdom, the Medical Research Council and the National Institute of Health Research (NIHR)

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