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Major genetic breakthrough for ankylosing spondylitis brings treatment hope
Date:10/21/2007

Research funded by the Wellcome Trust and the Arthritis Research Campaign has identified two genes implicated in the disease ankylosing spondylitis, a common disease primarily causing back pain and progressive stiffness. The research, published online today in Nature Genetics, suggests that a treatment currently being trialled for Crohn's disease may also be applied to this disease.

Ankylosing spondylitis affects as many as 1 in 200 men and 1 in 500 women in the UK, typically striking people in their late teens and twenties. Whilst it mainly affects the spine, it can also affect other joints, tendons and ligaments. More rarely, it can affect other areas, such as the eyes, lungs, bowel and heart. High-profile sufferers of the condition include former England cricket captain Mike Atherton.

Now, using a technique known as genome-wide association scanning, researchers led by Professors Lon Cardon, Matthew Brown and Paul Wordsworth, from the Wellcome Trust Centre for Human Genetics at the University of Oxford have analysed DNA samples from 1,000 patients with ankylosing spondylitis and a further 1,500 people unaffected by the disease in search of genetic mutations which, if present, increase a person's risk of developing the disease. The findings from this study were then confirmed by a team at University of Texas (Houston) led by Professor John Reveille.

"Ankylosing spondylitis is a painful and often very disabling disease," says Professor Brown. "Yet, our understanding of the causes of the disease, and hence our ability to treat it effectively, is relatively poor."

The researchers have identified two genes, ARTS1 and IL23R, which increase the risk of developing the disease. Together with the genetic variant HLA-B27, this takes the number of genes definitely known to be involved in the disease to three. A person carrying all three variants would be expected to have a one in four chance of developing the disease.

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Contact: Craig Brierley
c.brierley@wellcome.ac.uk
207-611-7329
Wellcome Trust
Source:Eurekalert

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