Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

Nat Genet 2013 Jul 9;45(7):730-8. Epub 2013 Jun 9.

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

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.

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http://dx.doi.org/10.1038/ng.2667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757343PMC
July 2013
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