The genetics of ankylosing spondylitis and axial spondyloarthritis.
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.
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Woolloongabba, Queensland 4102, Australia.
Philip C
PC
Robinson
Matthew A
MA
Brown
D000626:Aminopeptidases / Q000235:genetics; D044466:Asian People / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000097:blood / Q000235:genetics*; D006801:Humans; D015778:Minor Histocompatibility Antigens; D020412:Multifactorial Inheritance; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000276:immunology; D044465:White People / Q000235:genetics
D015796:HLA-B27 Antigen; D015778:Minor Histocompatibility Antigens; D000626:Aminopeptidases; C464841:ERAP1 protein, human