Two Genes Related to Ankylosing Spondylitis, Discovered



A disabling form of arthritis, ankylosing spondylitis is a painful and progressive disease in which some or all of the spine’s vertebrae fuse together.

Ankylosing spondylitis is a type of arthritis that not only affects the spine but also can attack other joints and organs, including the heart, lungs and eyes. The condition afflicts an estimated one in 200 males and one in 500 females and typically strikes during adolescence and young adulthood.

Now, an international team of researchers (led by a Fred Hutchinson Cancer Research Center geneticist) has discovered two genes associated to ankylosing spondylitis.

The study revealed two genes linked to ankylosing spondylitis: ARTS1 and IL23R, both of which influence immune function. Together with the previously known gene HLA-B27, the new findings increase to three the number of genes known to be involved in the disease. A person who carries all three genetic variants would be expected to have a one-in-four chance of developing the disease.

What does finding a gene associated to a disease mean actually? It means that anybody can get tested for said genes to determine their risk of a certain disease — such as ankylosing spondylitis and the genes associated with it as recently discovered. In the long run, this disease may be treated or prevented by gene therapy, once research become successful in this department.

Indeed, genes are important, as my friend Hsien always tells us.

According to principal investigator and corresponding author Lon Cardon, Ph.D (a member of the Hutchinson Center’s Human Biology Division, a statistical methodologist who last year came to the Hutchinson Center’s Human Biology Division from the University of Oxford, where he conducted the research and retains an academic post, also a professor of biostatistics at the University of Washington):

“Clinically these diseases tend to occur together — people with inflammatory-bowel disease also tend to have a higher probability of having ankylosing spondylitis and psoriasis. The IL23R gene provides a genetic link that sheds new light on their co-occurrence.

This is an exciting time for genetics. The Wellcome Trust Case Consortium has yielded more genetic discoveries for common diseases in 2007 than have been made in the entire history of the field.”

Do not get tired ever of hearing about genetics and stuff in any other disease or health condition, because the breakthroughs are admirable, not to mention awesome. Not all people (not even me!) may understand it and the research involved, but it is paving the way to prevention and cure of serious diseases. Yes, including arthritis and its many forms such as ankylosing spondylitis.

Ankylosing spondylitis. What a mouthful! But now we know that it is a form of arthritis.

Find more details from the Fred Hutchinson Cancer Research Center press release.

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NOTE: The contents in this blog are for informational purposes only, and should not be construed as medical advice, diagnosis, treatment or a substitute for professional care. Always seek the advice of your physician or other qualified health professional before making changes to any existing treatment or program. Some of the information presented in this blog may already be out of date.
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