SEATTLE An international team of researchers led by a Fred Hutchinson Cancer Research Center geneticist has discovered two genes linked to a disabling form of arthritis called ankylosing spondylitis, a painful and progressive disease in which some or all of the spines vertebrae fuse together. The researchers also validated the association of two genes implicated in Graves disease, an autoimmune condition that causes overactivity of the thyroid gland.
Principal investigator and corresponding author Lon Cardon, Ph.D., and colleagues in the U.K.-based Wellcome Trust Case Control Consortium and The Australo-Anglo-American Spondylitis Consortium reported their findings online Oct. 21 in Nature Genetics.
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.
The discovery of both genes, as well as the validation of two prime genetic suspects in Graves disease genes known as TSHR and FCRL3 arose from a comprehensive scan of the human genome in which dozens of researchers used genotyping technology to analyze DNA samples from thousands of patients suffering from a variety of common diseases and compared them to DNA from a similar number of healthy control subjects.
In addition to Graves disease and ankylosing spondylitis, the study mined for common genetic variations associated with multiple sclerosis and breast cancer. The most significant findings, however, were in ankylosing spondylitis, 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 d
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Fred Hutchinson Cancer Research Center