Genetics of ankylosing spondylitis—insights into pathogenesis

Brown, Matthew A., Kenna, Tony and Wordsworth, B. Paul (2015) Genetics of ankylosing spondylitis—insights into pathogenesis. Nature Reviews Rheumatology, 12 2: 81-91. doi:10.1038/nrrheum.2015.133

Author Brown, Matthew A.
Kenna, Tony
Wordsworth, B. Paul
Title Genetics of ankylosing spondylitis—insights into pathogenesis
Journal name Nature Reviews Rheumatology   Check publisher's open access policy
ISSN 1759-4804
Publication date 2015-10-06
Year available 2015
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1038/nrrheum.2015.133
Open Access Status Not Open Access
Volume 12
Issue 2
Start page 81
End page 91
Total pages 11
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
Ankylosing spondylitis (AS), an immune-mediated arthritis, is the prototypic member of a group of conditions known as spondyloarthropathies that also includes reactive arthritis, psoriatic arthritis and enteropathic arthritis. Patients with these conditions share a clinical predisposition for spinal and pelvic joint dysfunction, as well as genetic associations, notably with HLA-B*27. Spondyloarthropathies are characterized by histopathological inflammation in entheses (regions of high mechanical stress where tendons and ligaments insert into bone) and in the subchondral bone marrow, and by abnormal osteoproliferation at involved sites. The association of AS with HLA-B*27, first described >40 years ago, led to hope that the cause of the disease would be rapidly established. However, even though many theories have been advanced to explain how HLA-B*27 is involved in AS, no consensus about the answers to this question has been reached, and no successful treatments have yet been developed that target HLA-B27 or its functional pathways. Over the past decade, rapid progress has been made in discovering further genetic associations with AS that have shed new light on the aetiopathogenesis of the disease. Some of these discoveries have driven translational ideas, such as the repurposing of therapeutics targeting the cytokines IL-12 and IL-23 and other factors downstream of this pathway. AS provides an excellent example of how hypothesis-free research can lead to major advances in understanding pathogenesis and to the development of innovative therapeutic strategies.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2016 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 8 times in Thomson Reuters Web of Science Article | Citations
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