Cracking AMD's genetic code - rare gene identified

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.

Explaining the significance of the discovery to the understanding of the genetics of AMD and how it will contribute to the development of treatment, Professor Moore said:

"The results of this study highlight the importance of international collaboration in identifying the remaining genetic variants that predispose people to AMD. The identification of these genes requires access to very large numbers of patients with AMD which would not be available from a single centre. The results demonstrate the importance of abnormal immune function in AMD and should eventually lead to new treatments for AMD which target the complement pathway.'

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).