Two genes identified for AS

The University of Queensland's Professor Matt Brown, a principal investigator with the Wellcome Trust Case Control Consortium (WTCCC), has discovered two new genes responsible for one-third of the risk of developing ankylosing spondylitis.

Ankylosing spondylitis (AS) is a hereditary and debilitating form of arthritis.

The study was performed by both the WTCCC) and the Australo-Anglo-American Spondylitis Consortium (known as TASC), which had access to a grant pool of $16.6 million and $7 million respectively.

Brown, formerly of Oxford University and now at UQ's Diamantina Institute for Cancer, Immunology and Metabolic Medicine, worked with Professor John Reveille from the University of Texas and involved a team of researchers in Australia, the UK and North America.

"The identification of the two new genes will assist doctors to identify those people at high risk of developing ankylosing spondylitis," Brown said. "They also point to basic processes which cause this disease, for which there is no current treatment to prevent its progression.

"Together with the main gene, HLA-B27, the discovery of the two new genes, dubbed ARTS1 and IL23R, means we can now account for 70 per cent of the overall cause of ankylosing spondylitis.

"At this rate, we should have identified all of the genes that play a role in this damaging condition within the next 12 months."

Published yesterday in Nature Genetics, Brown's discovery is may lead to new therapeutics to treat ankylosing spondylitis, with clinical trials expected to occur over the next couple of years.

Ankylosing spondylitis is the second-most common form of arthritis and affects around one in 200, mainly young adults, with 22,000 Australians currently managing the condition.

It causes back pain and progressive stiffness of the spine, and can also damage other joints, the eyes and heart. In its most severe form, it leads to a complete fusion of the spine leaving patients unable to straighten and bend.

The genetic findings also largely explain why three conditions - psoriasis (skin inflammation and excessive skin production), Crohn's disease (inflammatory bowel disease), and ankylosing spondylitis - commonly occur together, something which had never previously been understood.

The results are among the first in the list from the world's largest genetic study involving WTCCC and TASC scientists on three continents.

For more information on the WTCCC and Brown's work, see Common variants, common disease