Genetics and the pathogenesis of ankylosing spondylitis

Brown, Matthew (2009) Genetics and the pathogenesis of ankylosing spondylitis. Current Opinion in Rheumatology, 21 4: 318-323. doi:10.1097/BOR.0b013e32832b3795

Author Brown, Matthew
Title Genetics and the pathogenesis of ankylosing spondylitis
Journal name Current Opinion in Rheumatology   Check publisher's open access policy
ISSN 1040-8711
Publication date 2009-07
Year available 2009
Sub-type Article (original research)
DOI 10.1097/BOR.0b013e32832b3795
Volume 21
Issue 4
Start page 318
End page 323
Total pages 6
Editor C. M. Weyand
Place of publication Philadelphia, P.A., U.S.A.
Publisher Lippincott Williams & Wilkins
Collection year 2010
Language eng
Subject C1
970106 Expanding Knowledge in the Biological Sciences
970111 Expanding Knowledge in the Medical and Health Sciences
920116 Skeletal System and Disorders (incl. Arthritis)
920108 Immune System and Allergy
1107 Immunology
110322 Rheumatology and Arthritis
Formatted abstract
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.
Keyword genome-wide association
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 47 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 47 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 08 Apr 2010, 14:43:36 EST by Sarah Macaione on behalf of UQ Diamantina Institute