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Age-related macular degeneration: new genetic association identified

A team of clinicians and scientists at the University of Southampton has identified a major new genetic association with age-related macular degeneration, the most common cause of blindness in developed countries.

Their research, which is published online today in The Lancet, adds to the growing understanding of the genetics of age-related macular degeneration and they believe it will better help predict those at risk and ultimately lead to better treatments.

The team, including Professor Andrew Lotery and his research group in the University's Clinical Neurosciences Division, together with Dr Sarah Ennis and Professor Andy Collins from the Genetic Epidemiology and Bioinformatics Group in the University's Human Genetics Division, found an association with the SERPING1 gene, which is involved in production of proteins for the 'complement' system within the eye, which helps clear foreign material and infection.

Together with colleagues from the University of Iowa, they found evidence of proteins expressed by SERPING1 in the retina and the choroid layer (the vascular layer next to the retina), the two areas affected by AMD. The findings suggest that the complement system is malfunctioning, attacking the retina and choroid layer.

Andrew Lotery, Professor of Ophthalmology at the University, comments: "Our study also shows that a particular variant of the gene SERPING1, carried by just under a quarter of the population, appears to offer protection against the disease.

"I am delighted that researchers at the University of Southampton have made such an important contribution to understanding this devastating disease. Now we must take this research further to ensure patients get maximum benefit from this discovery."

Almost two-thirds of people aged 80 years or older are affected by AMD to some degree, with more than one in ten left blind by the disease. In the UK, the annual economic burden from the disease has been estimated to be as high as £80 million, a figure set to increase as our ageing population expands. The total yearly costs of health-care usage are seven-times higher for patients with AMD than for those unaffected.

This research was supported by the Macula Vision Research Foundation, the Macular Disease Society, the Wellcome Trust, Brian Mercer Trust, the American Health Assistance Foundation, the National Institutes of Health and the Howard Hughes Medical Institute.

Professor Lotery's work in researching eye disease is supported by a specific charity called The Gift of Sight Appeal, which is administered by the Development Office at the University of Southampton.

Sarah Watts | alfa
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