The genetics of ankylosing spondylitis and axial spondyloarthritis

Robinson, Philip C. and Brown, Matthew A. (2012) The genetics of ankylosing spondylitis and axial spondyloarthritis. Rheumatic Disease Clinics of North America, 38 3: 539-553. doi:10.1016/j.rdc.2012.08.018

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Author Robinson, Philip C.
Brown, Matthew A.
Title The genetics of ankylosing spondylitis and axial spondyloarthritis
Journal name Rheumatic Disease Clinics of North America   Check publisher's open access policy
ISSN 0889-857X
Publication date 2012-08
Sub-type Article (original research)
DOI 10.1016/j.rdc.2012.08.018
Volume 38
Issue 3
Start page 539
End page 553
Total pages 17
Place of publication Maryland Heights, MO, United States
Publisher W.B. Saunders
Collection year 2013
Language eng
Abstract Ankylosing spondylitis (AS) and spondyloarthritis are strongly genetically determined. The long-standing association with HLA-B27 is well described, although the mechanism by which that association induces AS remains uncertain. Recent developments include the description of HLA-B27 tag single nucleotide polymorphisms in European and Asian populations. An increasing number of non-MHC genetic associations have been reported, which provided amongst other things the first evidence of the involvement of the IL-23 pathway in AS. The association with ERAP1 is now known to be restricted to HLA-B27 positive disease. Preliminary studies on the genetics of axial spondyloarthritis demonstrate a lower HLA-B27 carriage rate compared with AS. Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis.
Keyword Genetics
Ankylosing spondylitis
Axial spondyloarthritis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 25 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 25 times in Scopus Article | Citations
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