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

Adrian Cortes; Johanna Hadler; Jenny P. Pointon; Philip C. Robinson; Tugce Karaderi; Paul Leo; Katie Cremin; Karena Pryce; Jessica Harris; Seunghun Lee; Kyung Bin Joo; Seung-Cheol Shim; Michael Weisman; Michael Ward; Xiaodong Zhou; Henri-Jean Garchon; Gilles Chiocchia; Johannes Nossent; Benedicte A. Lie; Oystein Forre; Jaakko Tuomilehto; Kari Laiho; Lei Jiang; Yu Liu; Xin Wu; Linda A. Bradbury; Dirk Elewaut; Ruben Burgos-Vargas; Simon Stebbings; Louise Appleton; Claire Farrah; Jonathan Lau; Tony J. Kenna; Nigil Haroon; Manuel A. Ferreira; Jian Yang; Juan Mulero; Jose Luis Fernandez-Sueiro; Miguel A. Gonzalez-Gay; Carlos Lopez-Larrea; Panos Deloukas; Peter Donnelly; Paul Bowness; Karl Gafney; Hill Gaston; Dafna D. Gladman; Proton Rahman; Walter P. Maksymowych; Huji Xu; J. Bart A. Crusius; Irene E. van der Horst-Bruinsma; Chung-Tei Chou; Raphael Valle-Onate; Consuelo Romero-Sanchez; Inger Myrnes Hansen; Fernando M. Pimentel-Santos; Robert D. Inman; Vibeke Videm; Javier Martin; Maxime Breban; John D. Reveille; David M. Evans; Tae-Hwan Kim; Bryan Paul Wordsworth; Matthew A. Brown; Australo-Anglo-Amer

doi:10.1038/ng.2667

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

Journal article

Peer reviewed

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

Adrian Cortes, Johanna Hadler, Jenny P. Pointon, Philip C. Robinson, Tugce Karaderi, Paul Leo, Katie Cremin, Karena Pryce, Jessica Harris, Seunghun Lee, …

Nature genetics, Vol.45(7), pp.730-738

01/07/2013

DOI: https://doi.org/10.1038/ng.2667

PMCID: PMC3757343

PMID: 23749187

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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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Title: Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
Creators - without role: Adrian Cortes - University of Queensland
Johanna Hadler - University of Queensland
Jenny P. Pointon - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Philip C. Robinson - University of Queensland
Tugce Karaderi - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Paul Leo - University of Queensland
Katie Cremin - University of Queensland
Karena Pryce - University of Queensland
Jessica Harris - University of Queensland
Seunghun Lee - Hanyang University
Kyung Bin Joo - Hanyang University
Seung-Cheol Shim - Eulji University
Michael Weisman - College Station Medical Center
Michael Ward - NIAMSD, US NIH, Bethesda, MD 20892 USA
Xiaodong Zhou - Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA
Henri-Jean Garchon - Université Paris Cité
Gilles Chiocchia - Université Paris Cité
Johannes Nossent - Univ Hosp North Norway, Tromso, Norway
Benedicte A. Lie - University of Oslo
Oystein Forre - Univ Hosp Oslo, Dept Rheumatol, Oslo, Norway
Jaakko Tuomilehto - Universität für Weiterbildung Krems
Kari Laiho - Paijat Hame Cent Hosp, Lahti, Finland
Lei Jiang - College Station Medical Center
Yu Liu - College Station Medical Center
Xin Wu - College Station Medical Center
Linda A. Bradbury - University of Queensland
Dirk Elewaut - Ghent University
Ruben Burgos-Vargas - College Station Medical Center
Simon Stebbings - University of Otago
Louise Appleton - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Claire Farrah - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Jonathan Lau - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Tony J. Kenna - University of Queensland
Nigil Haroon - Toronto Western Hosp, Div Rheumatol, Toronto, ON M5T 2S8, Canada
Manuel A. Ferreira - University of Queensland
Jian Yang - University of Queensland
Juan Mulero - Hosp Puerta de Hierro, Dept Rheumatol, Madrid, Spain
Jose Luis Fernandez-Sueiro - Complejo Hosp La Coruna, Dept Rheumatol, Inst Invest Biomed A Coruna INIBIC, La Coruna, Spain
Miguel A. Gonzalez-Gay - Hosp Marques de Valcecilla, IFIMAV, Dept Rheumatol, Santander, Spain
Carlos Lopez-Larrea - Asturias Cent Univ Hosp, Dept Immunol, Oviedo, Spain
Panos Deloukas - Wellcome Sanger Institute
Peter Donnelly - University of Oxford
Paul Bowness - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Karl Gafney - Norwich University
Hill Gaston - University of Cambridge
Dafna D. Gladman - University of Toronto
Proton Rahman - Mécanique et Engrenage Moderne
Walter P. Maksymowych - University of Alberta
Huji Xu - College Station Medical Center
J. Bart A. Crusius - University of Amsterdam
Irene E. van der Horst-Bruinsma - University of Amsterdam
Chung-Tei Chou - College Station Medical Center
Raphael Valle-Onate - Univ La Sabana, Hosp Mil Cent, Div Rheumatol, Spondyloarthropathy Grp, Bogota, Colombia
Consuelo Romero-Sanchez - Univ La Sabana, Hosp Mil Cent, Div Rheumatol, Spondyloarthropathy Grp, Bogota, Colombia
Inger Myrnes Hansen - Helgelandssykehuset, Mo I Rana, Norway
Fernando M. Pimentel-Santos - College Station Medical Center
Robert D. Inman - Toronto Western Hosp, Div Rheumatol, Toronto, ON M5T 2S8, Canada
Vibeke Videm - College Station Medical Center
Javier Martin - CSIC, Inst Parasitol Biomed Lopez Neyra, Granada, Spain
Maxime Breban - Université Paris Cité
John D. Reveille - Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA
David M. Evans - Supreme Council Of Health
Tae-Hwan Kim - Hanyang University
Bryan Paul Wordsworth - Nuffield Orthopaed Ctr, Oxford Musculoskeletal Biomed Res Unit, NIHR, Oxford OX3 7LD, England
Matthew A. Brown - University of Queensland
Australo-Anglo-Amer
Publication Details: Nature genetics, Vol.45(7), pp.730-738
Publisher: Springer Nature
Number of pages: 11
Grant note: Rebecca Cooper Medical Research Foundation Wellcome Trust UL1RR024188 / University of Texas at Houston Clinical and Translational Science Award (CTSA) FICYT PC-10-70-Fondos FEDER / European Union; European Commission; Spanish Government National Health and Medical Research Council (Australia) (NHMRC); National Health and Medical Research Council (NHMRC) of Australia 81020108029; 30872339 / National Natural Science Foundation of China; National Natural Science Foundation of China (NSFC) Arthritis Australia P01-052915; R01-AR046208 / National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) 19356 / Versus Arthritis Spondyloarthritis Association of America G0000934 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) NIHR Thames Valley Comprehensive Local Research 613672; 1011506 / NHMRC; National Health and Medical Research Council (NHMRC) of Australia Australian Cancer Research Foundation Intramural Research Program, NIAMS, US National Institutes of Health and the Rebecca Cooper Foundation (Australia) National Health and Medical Research Council (Australia) Senior Principal Research Fellowship; National Health and Medical Research Council (NHMRC) of Australia 083948/Z/07/Z; 068545/Z/02; 076113 / Wellcome Trust ANR-10-MIDI-0002 / Agence Nationale de Recherche GEnetics, Microbiota, Inflammation and Spondyloarthritis (GEMISA); Agence Nationale de la Recherche (ANR) Abbott Laboratories A91202 / Oxford Comprehensive Biomedical Research Centre National Ankylosing Spondylitis Society (UK) Intramural Research Program, NIAMS, US National Institutes of Health G0000934 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) 19536; 18797 / Arthritis Research UK; Versus Arthritis Bolsa Investigacao da Sociedade Portuguesa de Reumatologia/Schering-Plough Fund for Scientific Research Flanders; FWO MO1-RR00425 / Cedars-Sinai General Clinical Research Center (GCRC) NIHR Oxford Musculoskeletal Biomedical Research Unit search council of Ghent University 566938; 569829 / National Health and Medical Research Council (Australia); National Health and Medical Research Council (NHMRC) of Australia Krembil Foundation Arthritis Society
Identifiers: 9936853008331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article