Rheumatology Advance Access published online on November 22, 2007
Rheumatology, doi:10.1093/rheumatology/kem269
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Breakthroughs in genetic studies of ankylosing spondylitis
1Immunogenetics, Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, Qld, Australia, University of Oxford Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, UK
Correspondence to:
M. A. Brown, Professor of Immunogenetics, Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, 4102, Australia. E-mail: matt.brown{at}uq.edu.au
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Abstract |
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Ankylosing spondylitis (AS), the prototypic seronegative arthropathy, is known to be highly heritable, with >90% of the risk of developing the disease determined genetically. As with most common heritable diseases, progress in identifying the genes involved using family-based or candidate gene approaches has been slow. The recent development of the genome-wide association study approach has revolutionized genetic studies of such diseases. Early studies in ankylosing spondylitis have produced two major breakthroughs in the identification of genes contributing roughly one third of the population attributable risk of the disease, and pointing directly to a potential therapy. These exciting findings highlight the potential of future more comprehensive genetic studies of determinants of disease risk and clinical manifestations, and are the biggest advance in our understanding of the causation of the disease since the discovery of the association with HLA-B27.
KEY WORDS: Ankylosing spondylitis, Genetics, Association
Submitted 1 July 2007;
revised version accepted 4 September 2007.
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