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Discovery
Of 2 Genes Related To Disabling Form Of Arthritis
22
Oct 2007
As
edited by Joint-Pain-Forum.com
Work done in part by researchers at The University of Texas Medical School at
Houston has led to the discovery of two genes that cause ankylosing spondylitis,
an inflammatory and potentially disabling disease. The findings are published in
the Oct. 21 online edition of Nature Genetics, a journal that emphasizes
research on the genetic basis for common and complex diseases.
John D.
Reveille, M.D., professor and director of the Division of Rheumatology and
Clinical Immunogenetics, in conjunction with Matthew A. Brown, M.D., professor
of immunogenetics at Australia's University of Queensland, led research done by
the Triple "A" Spondylitis Consortium Genetic Study (i.e. the TASC or
Australo-Anglo-American Spondylitis Consortium).
The international team
of researchers worked with investigators from the British Wellcome Trust Case
Control Consortium, and together they made the genetic discovery.
Reveille, chief of rheumatology at Memorial Hermann -- Texas Medical
Center, said the discovery of genes ARTS1 and IL23R brings the scientific
community two steps closer to fully understanding ankylosing spondylitis or AS,
a chronic form of arthritis that attacks the spine and also can target other
joints and organs in the body.
"We've long known that the HLA-B27 gene
accounts for 40 percent of the overall cause of AS," said Reveille, the
principal investigator of TASC. "Now we have found two new genes. Together with
HLA-B27, these genes account for roughly 70 percent of the overall cause. That
means we've almost nailed this disease. Within the next year, I predict we will
have identified all the genes that play a role in this insidious disease. There
is more exciting news to come."
The recent discovery is based on work
from the largest and most comprehensive genome-wide association scan conducted
to date. In this part of the research project, investigators were searching for
genetic information related to AS, as well as autoimmune thyroid disease/Graves'
Disease, breast cancer and multiple sclerosis. Reveille, the George S. Bruce,
Jr. Professor in Arthritis and Other Rheumatic Diseases, said the most
significant findings were in AS, a disease that generally strikes patients in
their teens, 20s or 30s.
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Article
adapted by
www.Joint-Pain-Forum.com from original press release.
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ARTS1 and IL23R show a new pathway of causation, Reveille said, and this could
lead to new therapies for the arthritic condition, which can cause a complete
fusion of the spine, leaving patients unable to straighten and bend.
The
identification of the two new genes also could help physicians identify patients
who are at the highest risk for developing AS.
"For example, if you have
a family member with AS, a simple blood test would be able to tell us if you are
also at risk," Reveille said. "We could offer screenings for people with back
pain. In the past, the HLA-B27 test was all we had. Now we potentially have more
tests."
Steve Haskew, who has lived with AS for thirty years, said the
genetic discovery offers hope to patients -- especially those who are newly
diagnosed.
"When I first started experiencing problems -- lower back
pain, the aching joints -- no one could tell me what was wrong," said Haskew,
59, co-leader of an AS support group that meets every other month at the UT
Medical School at Houston. "It took 10 years before a rheumatologist diagnosed
me with AS. Back then, there weren't many options. I was told to take
anti-inflammatories and stay as active as possible. It's fascinating to see how
far we've come and how much has been learned about the disease since then."
The research done by Reveille and his colleague Xiaodong Zhou, M.D.,
associate professor of medicine in Division of Rheumatology and Clinical
Immunogenetics, was supported in part by the Center for Clinical and
Translational Sciences (CCTS) at The University of Texas Health Science Center
at Houston.
"This is a success story for genetics work, and I think it
will lead the way for other work to be done," Reveille said.
The
Spondylitis Association of America (SAA) oversaw the nationwide recruitment of
patients and families for the study.
"This is the most significant
breakthrough in AS genetic research since HLA-B27 was uncovered 34 years ago,
and SAA played a significant role in making the study possible," said SAA
Associate Executive Director Laurie Savage, who is co-principal investigator for
TASC's administrative core.
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