Arthritis genes identified

Monday, 22 October, 2007

A Queensland scientist has discovered two genes responsible for developing a form of arthritis known as ankylosing spondylitis, according to research published in the latest edition of

Ankylosing spondylitis is the second-most common form of arthritis, mainly affecting young adults, with 22,000 Australians currently managing the condition.

It causes back pain and progressive stiffness of the spine and can damage the eyes, heart and joints. In its most severe form it can completely fuse the spine, leaving patients unable to straighten and bend.

“The identification of the two new genes will assist doctors to identify those people at high risk of developing ankylosing spondylitis,” said research leader, Prof Matthew Brown, from the University of Queensland’s Diamantina Institute for Cancer, Immunology and Metabolic Medicine.

“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% of the overall cause of ankylosing spondylitis.”

Professor Brown’s discovery is expected to rapidly lead to new therapeutics to treat ankylosing spondylitis, with clinical trials expected to occur over the next couple of years.

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

The team used a microarray genotyper to scan 14,500 genetic variants affecting proteins known as nonsynonymous SNPs (nsSNPs) from 2500 people.

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.

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