Genetics and the pathogenesis of ankylosing spondylitis

Brown, Matthew A. (2009) Genetics and the pathogenesis of ankylosing spondylitis. Current Opinion in Rheumatology, 21(4), pp. 318-323.

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Purpose of review

The field of genetic research in ankylosing spondylitis (AS) is advancing rapidly. The purpose of this review is to outline recent findings, particularly, in regard to genetic studies of the major histocompatibility complex (MHC) and the non-MHC genes IL23R, ERAP1, and killer cell immunologlobulin-like receptor (KIR) complex, in AS.

Recent findings:

Convincing evidence has been reported for the existence of further non-B27 MHC genes involved in AS. Strong, replicated association has been reported with IL23R and ERAP1 and AS. The IL23R finding strongly implicates the TH17 lymphocyte system in AS aetiopathogenesis. Suggestive evidence of a role for KIR gene polymorphism in AS exists, but definitive findings are awaited.


The findings suggest that further genome-wide studies in large case-control cohorts are likely to be very productive in this disease. The IL23R findings and subsequent immunological investigations suggest that targeted intervention in the TH17 system is likely to have major therapeutic benefit, as it does in the genetically related diseases, inflammatory bowel disease and psoriasis.

Impact and interest:

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45 citations in Web of Science®

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ID Code: 88004
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: ERAP1, Genetics, IL23R, Killer cell immunologlobulin-like receptor, Major histocompatibility complex, HLA B27 antigen, killer cell immunoglobulin like receptor, ankylosing spondylitis, DNA polymorphism, gene replication, genetic analysis, genetic association, pathogenesis, priority journal, review, Th17 cell, Aminopeptidases, Genetic Predisposition to Disease, Genome-Wide Association Study, Histocompatibility Antigens, Humans, Polymorphism, Single Nucleotide, Receptors, Interleukin, Receptors, KIR, Spondylitis, Ankylosing, T-Lymphocytes, Helper-Inducer
DOI: 10.1097/BOR.0b013e32832b3795
ISSN: 1040-8711
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 02 Oct 2015 01:49
Last Modified: 18 Oct 2015 22:50

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