Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series

Karaderi, T., Harvey, D., Farrar, C., Appleton, L. H., Stone, M. A., Sturrock, R. D., Brown, Matthew A., Wordsworth, P., & Pointon, J. J. (2009) Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series. Rheumatology, 48(4), pp. 386-389.

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It has been shown previously that IL-23R variants are associated with AS. We conducted an extended analysis in the UK population and a meta-analysis with the previously published studies, in order to refine these IL-23R associations with AS.


The UK case-control study included 730 new cases and 1331 healthy controls. In the extended study, the 730 cases were combined with 1088 published cases. Allelic associations were analysed using contingency tables. In the meta-analysis, 3482 cases and 3150 controls from four different published studies and the new UK cases were combined. DerSimonian-Laird test was used to calculate random effects pooled odds ratios (ORs).


In the UK case-control study with new cases, four of the eight SNPs showed significant associations, whereas in the extended UK study, seven of the eight IL-23R SNPs showed significant associations (P < 0.05) with AS, maximal with rs11209032 (P < 10-5, OR 1.3), when cases with IBD and/or psoriasis were excluded. The meta-analysis showed significant associations with all eight SNPs; the strongest associations were again seen not only with rs11209032 (P = 4.06 × 10-9, OR ∼1.2) but also with rs11209026 (P < 10-10, OR ∼0.6). Conclusions. IL-23R polymorphisms are clearly associated with AS, but the primary causal association(s) is(are) still not established. These polymorphisms could contribute either increased or decreased susceptibility to AS; functional studies will be required for their full evaluation. Additionally, observed stronger associations with SNPs rs11209026 and rs11465804 upon exclusion of IBD and/or psoriasis cases may represent an independent association with AS. © The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.

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ID Code: 89408
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :57
Export Date: 21 September 2015
Correspondence Address: Pointon, J.J.; Oxford University, Institute of Musculoskeletal Science, Botnar Research Centre, Windmill Road, Headington, Oxford OX3 7LD, United Kingdom; email:
Keywords: AS, Genetic association, IL-23 receptor, Polymorphism, SpA, interleukin 23 receptor, ankylosing spondylitis, article, case control study, controlled study, disease predisposition, gene frequency, gene location, genetic susceptibility, genotype, human, major clinical study, population research, priority journal, single nucleotide polymorphism, United Kingdom, Case-Control Studies, Genetic Predisposition to Disease, Great Britain, Humans, Irritable Bowel Syndrome, Odds Ratio, Polymorphism, Single Nucleotide, Psoriasis, Receptors, Interleukin, Spondylitis, Ankylosing
DOI: 10.1093/rheumatology/ken501
ISSN: 1462-0324
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: © The Authors 2009
Deposited On: 23 Oct 2015 00:28
Last Modified: 26 Jun 2017 02:01

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