Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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

DOI

10.1038/ng.2667

Type

Journal article

Journal

Nat Genet

Publication Date

07/2013

Volume

45

Pages

730 - 738

Keywords

Alleles, Case-Control Studies, DNA Mutational Analysis, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Genotyping Techniques, HLA-B27 Antigen, High-Throughput Nucleotide Sequencing, Humans, Immune System Phenomena, Polymorphism, Single Nucleotide, Risk Factors, Spondylitis, Ankylosing