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Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis-associated haplotypes at 11 loci. Two ankylosing spondylitis-associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression.

Original publication




Journal article


Nature genetics

Publication Date





730 - 738


University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.


International Genetics of Ankylosing Spondylitis Consortium (IGAS), Australo-Anglo-American Spondyloarthritis Consortium (TASC), Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS), Nord-Trøndelag Health Study (HUNT), Spondyloarthritis Research Consortium of Canada (SPARCC), Wellcome Trust Case Control Consortium 2 (WTCCC2), Humans, Spondylitis, Ankylosing, Genetic Predisposition to Disease, HLA-B27 Antigen, Risk Factors, Case-Control Studies, DNA Mutational Analysis, Genotype, Polymorphism, Single Nucleotide, Alleles, Genome-Wide Association Study, Immune System Phenomena, Genetic Loci, High-Throughput Nucleotide Sequencing, Genotyping Techniques