The research, funded by The Wellcome Trust, is published today in The American Journal of Human Genetics. The University of Leicester led the study which also involved institutions from New Zealand, Australia, Denmark, Iceland, The Netherlands, Sweden, the USA and the UK.
Medical scientists have for the first time identified a gene responsible for a fatal abdominal condition that afflicts tens of thousands of people across the world.
An AAA is a swelling of the main blood vessel in the back of the abdomen which can burst, causing dangerous internal bleeding. The only treatment to prevent this happening is surgery. This is performed when the AAA grows over a certain size as the risk of the AAA bursting is low when it is small. Unfortunately there is no treatment to prevent small AAAs from growing and despite detecting AAAs by screening, and surgery, many thousands of people still die from burst AAA each year.
The findings, published in Nature Genetics, help explain why bone formation occurs and suggest inhibition of the newly-found genetic correlates might alter disease progression.
