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Rheum Dis Clin North Am. 2012 Aug;38(3):539-53. doi: 10.1016/j.rdc.2012.08.018. Epub 2012 Sep 19.

The genetics of ankylosing spondylitis and axial spondyloarthritis.

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1
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Woolloongabba, Queensland 4102, Australia.

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.

PMID:
23083754
DOI:
10.1016/j.rdc.2012.08.018
[Indexed for MEDLINE]
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