C3 Gene Variant Increases Risk of AMD

Press Release
July 18, 2007
Researchers have found a gene variant that can more than double the risk of age-related macular degeneration (AMD).
The researchers based their findings on studies of patients with AMD (603 from England and 244 from Scotland) who were compared with 701 unaffected people. They found that a variant in the complement C3 gene influenced the risk of developing AMD. For the 30% of the population who carry one copy of the so-called “fast” variant the risk of AMD was increased by 70%, and for the 4% of people with two copies of the “fast” variant the risk of AMD was more than doubled. The ‘fast’ variant in the C3 gene increases the risk of both the wet and dry forms of the disease.
The complement C3 gene has a central role in the immune system. The results of this research provide strong evidence that inflammation is an important part of the disease process in AMD.
The goal of this type of research is to achieve a full understanding of the causes of AMD, which should lead to the development of better treatment and strategies for prevention of this common and debilitating disease.
Professor John Yates, at the University of Cambridge, said: “AMD is devastating for those who lose their site and we hope that a better understanding of what causes the disease will eventually lead to better treatment and perhaps prevention”.
The initial studies were carried out by a team of researchers led by Professor John Yates, University of Cambridge and Professor Tony Moore at the UCL Institute of Ophthalmology. Further work to confirm the initial findings was carried out by researchers in Scotland led by Professor Alan Wright, Medical Research Council Human Genetics Unit, Edinburgh.
This research, reported in the New England Journal of Medicine, has been funded by the Medical Research Council.