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Two New Arthritis Genes
edited by Joint-Pain-Forum.com
In a world first, a UQ scientist has discovered two new genes responsible for
one-third of the risk of developing a hereditary and debilitating form of
arthritis known as ankylosing spondylitis.
The discovery, headed by
Professor Matthew Brown, from UQ's Diamantina Institute for Cancer, Immunology and Metabolic
Medicine, is the most significant discovery in this disease since the first
gene behind spondylitis was identified 37 years ago.
The study was
performed by both the Wellcome
Trust Case Control Consortium (WTCCC) and the Australo-Anglo-American
Spondylitis Consortium (known as TASC), accessing a grant pool of $16.6 million
(£7 million) and $7 million (US$5.5 million) respectively.
Brown's work was assisted by Professor John Reveille from the Division of Rheumatology and Clinical Immunogenetics at the
University of Texas, and involved a team of researchers in Australia, England
and North America.
"The identification of the two new genes will assist
doctors to identify those people at high risk of developing ankylosing
spondylitis," Professor Brown said. "They also point to basic processes which
cause this disease, for which there is no current treatment to prevent its
"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 percent
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."
www.Joint-Pain-Forum.com from original press release.
Published in the latest edition of prestigious international journal, Nature
Genetics, 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.
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.
results are among the first in a roll-out of life-changing discoveries from the
world's largest genetic study involving WTCCC and TASC scientists on three
To make his discovery, Professor Brown scanned 14,500
genetic variants affecting proteins known as nonsynonymous SNPs (nsSNPs) from
The main equipment used at UQ Diamantina was a micro array
genotyper, capable of simultaneously analysing millions of possible genetic
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