Researchers at the University of Queensland Diamantina Institute in Brisbane, Australia, have found that a form of spinal arthritis is genetically linked to Inflammatory Bowel Disease. The study will be published on December 2 in the open-access journal PLoS Genetics. Ankylosing Spondylitis (AS) is a common form of arthritis involving chronic inflammation particularly of the spinal and pelvic joints, which causes pain, stiffness, and often disability. Affecting up to 0.5% of the population, the risk of AS is almost entirely genetically determined. Curiously, AS patients appear to be highly susceptible to Inflammatory Bowel Disease (IBD), including Crohn's disease. Similarly, the development of AS is common in IBD patients. Professor Matt Brown and his colleagues wanted to determine if this was more than a coincidence.
"It seemed likely that common pathogenic pathways may be acting in the development of both diseases" said Professor Brown.
In order to test whether genes associated with Crohn's disease are also associated with AS, they searched for known genetic markers of Crohn's disease in the genomes of more than 2700 AS patients, working with colleagues from England, North America and Canada. The results revealed that both AS and Crohn's disease share several similar genetic variations, and identified seven genes affecting both conditions.
When the researchers took a closer look at the function of the genes they had identified, they found that four of the genes are known to influence the activation of a recently discovered class of helper T-cells called Th17 cells. Identifying the involvement of these immune cells greatly increases what is known about how AS develops, and points to potential new therapies for this form of arthritis. This study highlights the value of studies that look into individual genes that might be implicated in related diseases.
FINANCIAL DISCLOSURE: This study was funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) grants P01-052915 and R01-AR046208. Funding was also received from the University of Texas at Houston CTSA grant UL1RR024188, Cedars-Sinai GCRC grant MO1-RR00425, Intramural Research Program, NIAMS/NIH, and Rebecca Cooper Foundation (Australia). MAB is funded by the National Health and Medical Research Council (Australia). Support was also received from the National Institute for Health Research (UK) Oxford Biomedical Research Centre ankylosing spondylitis chronic disease cohort (Theme Code A91202), NIHR Oxford Musculoskeletal Biomedical Research Unit and the NIHR Thames Valley Collaborative Local Research Network, and Princess Alexandra Hospital Research Foundation. We would like to thank the National Ankylosing Spondylitis Society (UK) for assistance in patient recruitment and the Arthritis Research Campaign (UK) for financial support under grants 19356 and 18797. The Spondyloarthritis Research Consortium of Canada (SPARCC) is supported by a National Research Initiative (NRI) award from the Arthritis Society of Canada. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
COMPETING INTERESTS: The authors have declared that no competing interests exist.
CITATION: Danoy P, Pryce K, Hadler J, Bradbury LA, Farrar C, et al. (2010) Association of Variants at 1q32 and STAT3 with Ankylosing Spondylitis Suggests Genetic Overlap with Crohn's Disease. PLoS Genet 6(12): e1001195. doi:10.1371/journal.pgen.1001195
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