Breakthroughs in genetic studies of ankylosing spondylitis

Brown, M. A. (2008) Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology, 47(2), pp. 132-137.

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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.

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ID Code: 89467
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :69
Export Date: 21 September 2015
Correspondence Address: Brown, M.A.; Department of Immunogenetics, Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia; email:
Keywords: Ankylosing spondylitis, Association, Genetics, caspase recruitment domain protein 15, cytochrome P450 2D6, gene product, HLA B27 antigen, HLA DR antigen, interleukin 1, interleukin 1 receptor 2, interleukin 17, interleukin 23, interleukin 23 receptor, interleukin 6, interleukin 6 receptor alpha, interleukin receptor, low density lipoprotein receptor related protein 5, major histocompatibility antigen, protein ANKH, protein ARTS1, protein kir, protein tyrosine phosphatase, protein tyrosine phosphatase 22, recombinant interleukin 1 receptor blocking agent, toll like receptor 4, tumor necrosis factor, tumor necrosis factor receptor 1, unclassified drug, Wnt protein, clinical feature, drug targeting, environmental factor, gene cluster, gene expression regulation, gene frequency, gene function, gene locus, gene mapping, gene sequence, genetic association, genetic epidemiology, genetic identification, genetic linkage, genetic susceptibility, genetic variability, genotype, heredity, heritability, high throughput screening, human, inflammation, nonhuman, osteoporosis, pathogenesis, prevalence, priority journal, review, rheumatoid arthritis, single nucleotide polymorphism, Aminopeptidases, Chromosome Mapping, Frameshift Mutation, Genetic Predisposition to Disease, Genome, Human, Humans, Major Histocompatibility Complex, Polymerase Chain Reaction, Receptors, Interleukin, Spondylitis, Ankylosing
DOI: 10.1093/rheumatology/kem269
ISSN: 1462-0332
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: © The Author 2007
Deposited On: 25 Oct 2015 22:40
Last Modified: 19 Aug 2016 02:46

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