The genetics of ankylosing spondylitis and axial spondyloarthritis

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

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.

Publication types

  • Review

MeSH terms

  • Aminopeptidases / genetics
  • Asian Continental Ancestry Group / genetics
  • European Continental Ancestry Group / genetics
  • Genetic Predisposition to Disease*
  • HLA-B27 Antigen / blood
  • HLA-B27 Antigen / genetics*
  • Humans
  • Minor Histocompatibility Antigens
  • Multifactorial Inheritance*
  • Polymorphism, Single Nucleotide
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / immunology

Substances

  • HLA-B27 Antigen
  • Minor Histocompatibility Antigens
  • Aminopeptidases
  • ERAP1 protein, human