Title |
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
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Published in |
Nature Genetics, June 2013
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DOI | 10.1038/ng.2667 |
Pubmed ID | |
Abstract |
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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Lebanon | 1 | 4% |
Germany | 1 | 4% |
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Mexico | 1 | 4% |
Netherlands | 1 | 4% |
Pakistan | 1 | 4% |
Other | 0 | 0% |
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Science communicators (journalists, bloggers, editors) | 4 | 16% |
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Mendeley readers
Geographical breakdown
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Germany | 1 | <1% |
Finland | 1 | <1% |
Portugal | 1 | <1% |
China | 1 | <1% |
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Computer Science | 7 | 2% |
Other | 34 | 8% |
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