Journal
NATURE GENETICS
Volume 45, Issue 7, Pages 730-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2667
Keywords
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Categories
Funding
- Wellcome Trust [083948/Z/07/Z, 068545/Z/02, 076113]
- Medical Research Council [G0000934]
- Wellcome Trust
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) [P01-052915, R01-AR046208]
- University of Texas at Houston Clinical and Translational Science Award (CTSA) [UL1RR024188]
- Cedars-Sinai General Clinical Research Center (GCRC) [MO1-RR00425]
- Intramural Research Program, NIAMS, US National Institutes of Health and the Rebecca Cooper Foundation (Australia)
- Arthritis Research UK [19536, 18797]
- Oxford Comprehensive Biomedical Research Centre [A91202]
- National Natural Science Foundation of China [81020108029, 30872339]
- Bolsa Investigacao da Sociedade Portuguesa de Reumatologia/Schering-Plough
- European Union [FICYT PC-10-70-Fondos FEDER]
- Agence Nationale de Recherche GEnetics, Microbiota, Inflammation and Spondyloarthritis (GEMISA) [ANR-10-MIDI-0002]
- Krembil Foundation
- Arthritis Society
- National Health and Medical Research Council (Australia) (NHMRC)
- Arthritis Australia
- NHMRC [613672, 1011506]
- Intramural Research Program, NIAMS, US National Institutes of Health
- search council of Ghent University
- Fund for Scientific Research Flanders
- National Health and Medical Research Council (Australia) Senior Principal Research Fellowship
- National Health and Medical Research Council (Australia) [566938, 569829]
- Australian Cancer Research Foundation
- Rebecca Cooper Medical Research Foundation
- National Ankylosing Spondylitis Society (UK)
- Spondyloarthritis Association of America
- NIHR Oxford Musculoskeletal Biomedical Research Unit
- NIHR Thames Valley Comprehensive Local Research
- Abbott Laboratories
- MRC [G0000934] Funding Source: UKRI
- Medical Research Council [G0000934] Funding Source: researchfish
- Versus Arthritis [19356] Funding Source: researchfish
- Agence Nationale de la Recherche (ANR) [ANR-10-MIDI-0002] Funding Source: Agence Nationale de la Recherche (ANR)
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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.
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