Genetics and genomics of ankylosing spondylitis

Thomas, G. P. & Brown, Matthew A. (2010) Genetics and genomics of ankylosing spondylitis. Immunological Reviews, 233(1), pp. 162-180.

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Ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the pathogenesis of which is poorly understood. The mechanism by which the main gene for the disease, HLA-B27, leads to AS is unknown. Genetic and genomic studies have demonstrated involvement of the interleukin-23 (IL-23) signaling pathway in AS, a finding which has stimulated much new research into the disease and has led to therapeutic trials. Several other genes and genetic regions, including further major histocompatibility complex (MHC) and non-MHC loci, have been shown to be involved in the disease, but it is not clear yet how they actually induce the condition. These findings have shown that there is a strong genetic overlap between AS and Crohn's disease in particular, although there are also major differences in the genes involved in the two conditions, presumably explaining their different presentations. Genomic and proteomic studies are in an early phase but have potential both as diagnostic/prognostic tools and as a further hypothesis-free tool to investigate AS pathogenesis. Given the slow progress in studying the mechanism of association of HLA-B27 with AS, these may prove to be more fruitful approaches to investigating the pathogenesis of the disease. © 2009 John Wiley & Sons A/S.

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ID Code: 89380
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :86
Export Date: 21 September 2015
Correspondence Address: Brown, M. A.; Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia; email:
Keywords: Ankylosing spondylitis, Cytokine, DNA, Genetics, Proteomics, RNA, carpase recruitment domain containing protein 9, caspase recruitment domain signaling protein, HLA B27 antigen, HLA DR antigen, interleukin 23 receptor, killer cell immunoglobulin like receptor, membrane protein, protein erap 1, unclassified drug, vascular endothelial growth inhibitor, gene expression, gene mutation, genetic epidemiology, human, pathogenesis, priority journal, review, Animals, Cytokines, Genetic Predisposition to Disease, Genomics, HLA-B27 Antigen, Humans, Inflammation Mediators, Major Histocompatibility Complex, Risk Factors, Signal Transduction, Spondylitis, Ankylosing
DOI: 10.1111/j.0105-2896.2009.00852.x
ISSN: 0105-2896
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2009 John Wiley & Sons
Deposited On: 22 Oct 2015 02:07
Last Modified: 22 Aug 2016 01:02

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