Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dense Genotyping of Immune-Related Loci in the Idiopathic Inflammatory Myopathies Confirms HLA alleles as Strongest Genetic Risk Factor and Suggests Different Genetic Background for Major Clinical Subgroups</title><author><name sortKey="Rothwell, Simon" sort="Rothwell, Simon" uniqKey="Rothwell S" first="Simon" last="Rothwell">Simon Rothwell</name><affiliation><nlm:aff id="A1">Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Cooper, Robert G" sort="Cooper, Robert G" uniqKey="Cooper R" first="Robert G." last="Cooper">Robert G. Cooper</name><affiliation><nlm:aff id="A2">Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L69 3GA, UK</nlm:aff></affiliation></author><author><name sortKey="Lundberg, Ingrid E" sort="Lundberg, Ingrid E" uniqKey="Lundberg I" first="Ingrid E." last="Lundberg">Ingrid E. Lundberg</name><affiliation><nlm:aff id="A3">Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, 171 76, Sweden</nlm:aff></affiliation></author><author><name sortKey="Miller, Frederick W" sort="Miller, Frederick W" uniqKey="Miller F" first="Frederick W." last="Miller">Frederick W. Miller</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Gregersen, Peter K" sort="Gregersen, Peter K" uniqKey="Gregersen P" first="Peter K." last="Gregersen">Peter K. Gregersen</name><affiliation><nlm:aff id="A5">The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Bowes, John" sort="Bowes, John" uniqKey="Bowes J" first="John" last="Bowes">John Bowes</name><affiliation><nlm:aff id="A1">Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Vencovsky, Jiri" sort="Vencovsky, Jiri" uniqKey="Vencovsky J" first="Jiri" last="Vencovsky">Jiri Vencovsky</name><affiliation><nlm:aff id="A6">Institute of Rheumatology and Department of Rheumatology, 1<sup>st</sup> Faculty of Medicine, Charles University, Prague, 12850, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Danko, Katalin" sort="Danko, Katalin" uniqKey="Danko K" first="Katalin" last="Danko">Katalin Danko</name><affiliation><nlm:aff id="A7">Division of Clinical Immunology, Department of Internal Medicine, University of Debrecen, Hungary</nlm:aff></affiliation></author><author><name sortKey="Limaye, Vidya" sort="Limaye, Vidya" uniqKey="Limaye V" first="Vidya" last="Limaye">Vidya Limaye</name><affiliation><nlm:aff id="A8">Royal Adelaide Hospital and University of Adelaide, North Tce, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Selva O Allaghan, Albert" sort="Selva O Allaghan, Albert" uniqKey="Selva O Allaghan A" first="Albert" last="Selva-O Allaghan">Albert Selva-O Allaghan</name><affiliation><nlm:aff id="A9">Department of Internal Medicine, Vall d’Hebron Hospital, Passeig Vall d’Hebron, Barcelona 08035, Spain</nlm:aff></affiliation></author><author><name sortKey="Hanna, Michael G" sort="Hanna, Michael G" uniqKey="Hanna M" first="Michael G." last="Hanna">Michael G. Hanna</name><affiliation><nlm:aff id="A10">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Machado, Pedro M" sort="Machado, Pedro M" uniqKey="Machado P" first="Pedro M." last="Machado">Pedro M. Machado</name><affiliation><nlm:aff id="A10">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Pachman, Lauren M" sort="Pachman, Lauren M" uniqKey="Pachman L" first="Lauren M." last="Pachman">Lauren M. Pachman</name><affiliation><nlm:aff id="A11">Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Reed, Ann M" sort="Reed, Ann M" uniqKey="Reed A" first="Ann M." last="Reed">Ann M. Reed</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Rider, Lisa G" sort="Rider, Lisa G" uniqKey="Rider L" first="Lisa G." last="Rider">Lisa G. Rider</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Cobb, Joanna" sort="Cobb, Joanna" uniqKey="Cobb J" first="Joanna" last="Cobb">Joanna Cobb</name><affiliation><nlm:aff id="A13">Arthritis Research UK, NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Platt, Hazel" sort="Platt, Hazel" uniqKey="Platt H" first="Hazel" last="Platt">Hazel Platt</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Molberg, Yvind" sort="Molberg, Yvind" uniqKey="Molberg " first=" Yvind" last="Molberg"> Yvind Molberg</name><affiliation><nlm:aff id="A15">Department of Rheumatology, Oslo University Hospital, Oslo 0424, Norway</nlm:aff></affiliation></author><author><name sortKey="Benveniste, Olivier" sort="Benveniste, Olivier" uniqKey="Benveniste O" first="Olivier" last="Benveniste">Olivier Benveniste</name><affiliation><nlm:aff id="A16">Pitié-Salpêtrière Hospital, UPMC, APHP, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Mathiesen, Pernille" sort="Mathiesen, Pernille" uniqKey="Mathiesen P" first="Pernille" last="Mathiesen">Pernille Mathiesen</name><affiliation><nlm:aff id="A17">Paediatric Department, Naestved Hospital, Næstved 4700, Denmark</nlm:aff></affiliation></author><author><name sortKey="Radstake, Timothy" sort="Radstake, Timothy" uniqKey="Radstake T" first="Timothy" last="Radstake">Timothy Radstake</name><affiliation><nlm:aff id="A18">Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Doria, Andrea" sort="Doria, Andrea" uniqKey="Doria A" first="Andrea" last="Doria">Andrea Doria</name><affiliation><nlm:aff id="A19">Department of Medicine, University of Padova, 35128 Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name><affiliation><nlm:aff id="A20">Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Paepe, Boel" sort="De Paepe, Boel" uniqKey="De Paepe B" first="Boel" last="De Paepe">Boel De Paepe</name><affiliation><nlm:aff id="A20">Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Maurer, Britta" sort="Maurer, Britta" uniqKey="Maurer B" first="Britta" last="Maurer">Britta Maurer</name><affiliation><nlm:aff id="A21">Department of Rheumatology and Center of Experimental Rheumatology, University Hospital Zurich, Zurich CH-8091, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Ollier, William E" sort="Ollier, William E" uniqKey="Ollier W" first="William E." last="Ollier">William E. Ollier</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Padyukov, Leonid" sort="Padyukov, Leonid" uniqKey="Padyukov L" first="Leonid" last="Padyukov">Leonid Padyukov</name><affiliation><nlm:aff id="A3">Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, 171 76, Sweden</nlm:aff></affiliation></author><author><name sortKey="O Anlon, Terrance P" sort="O Anlon, Terrance P" uniqKey="O Anlon T" first="Terrance P." last="O Anlon">Terrance P. O Anlon</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Lee, Annette" sort="Lee, Annette" uniqKey="Lee A" first="Annette" last="Lee">Annette Lee</name><affiliation><nlm:aff id="A5">The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I." last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A22">Geisel School of Medicine, Dartmouth College, Hanover, NH 03750, USA</nlm:aff></affiliation></author><author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name><affiliation><nlm:aff id="A23">Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), D-85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><nlm:aff id="A24">Institute of Human Genetics, Technische Universität München, 81675, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A25">Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation><nlm:aff id="A26">Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Wedderburn, Lucy R" sort="Wedderburn, Lucy R" uniqKey="Wedderburn L" first="Lucy R" last="Wedderburn">Lucy R. Wedderburn</name><affiliation><nlm:aff id="A28">Arthritis Research UK Centre for Adolescent Rheumatology, and Institute of Child Health, University College London, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Chinoy, Hector" sort="Chinoy, Hector" uniqKey="Chinoy H" first="Hector" last="Chinoy">Hector Chinoy</name><affiliation><nlm:aff id="A29">National Institute of Health Research Manchester Musculoskeletal Biomedical Research Unit, Centre for Musculoskeletal Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Lamb, Janine A" sort="Lamb, Janine A" uniqKey="Lamb J" first="Janine A" last="Lamb">Janine A. Lamb</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26362759</idno><idno type="pmc">5300750</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300750</idno><idno type="RBID">PMC:5300750</idno><idno type="doi">10.1136/annrheumdis-2015-208119</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001C97</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001C97</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dense Genotyping of Immune-Related Loci in the Idiopathic Inflammatory Myopathies Confirms HLA alleles as Strongest Genetic Risk Factor and Suggests Different Genetic Background for Major Clinical Subgroups</title><author><name sortKey="Rothwell, Simon" sort="Rothwell, Simon" uniqKey="Rothwell S" first="Simon" last="Rothwell">Simon Rothwell</name><affiliation><nlm:aff id="A1">Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Cooper, Robert G" sort="Cooper, Robert G" uniqKey="Cooper R" first="Robert G." last="Cooper">Robert G. Cooper</name><affiliation><nlm:aff id="A2">Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L69 3GA, UK</nlm:aff></affiliation></author><author><name sortKey="Lundberg, Ingrid E" sort="Lundberg, Ingrid E" uniqKey="Lundberg I" first="Ingrid E." last="Lundberg">Ingrid E. Lundberg</name><affiliation><nlm:aff id="A3">Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, 171 76, Sweden</nlm:aff></affiliation></author><author><name sortKey="Miller, Frederick W" sort="Miller, Frederick W" uniqKey="Miller F" first="Frederick W." last="Miller">Frederick W. Miller</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Gregersen, Peter K" sort="Gregersen, Peter K" uniqKey="Gregersen P" first="Peter K." last="Gregersen">Peter K. Gregersen</name><affiliation><nlm:aff id="A5">The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Bowes, John" sort="Bowes, John" uniqKey="Bowes J" first="John" last="Bowes">John Bowes</name><affiliation><nlm:aff id="A1">Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Vencovsky, Jiri" sort="Vencovsky, Jiri" uniqKey="Vencovsky J" first="Jiri" last="Vencovsky">Jiri Vencovsky</name><affiliation><nlm:aff id="A6">Institute of Rheumatology and Department of Rheumatology, 1<sup>st</sup> Faculty of Medicine, Charles University, Prague, 12850, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Danko, Katalin" sort="Danko, Katalin" uniqKey="Danko K" first="Katalin" last="Danko">Katalin Danko</name><affiliation><nlm:aff id="A7">Division of Clinical Immunology, Department of Internal Medicine, University of Debrecen, Hungary</nlm:aff></affiliation></author><author><name sortKey="Limaye, Vidya" sort="Limaye, Vidya" uniqKey="Limaye V" first="Vidya" last="Limaye">Vidya Limaye</name><affiliation><nlm:aff id="A8">Royal Adelaide Hospital and University of Adelaide, North Tce, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Selva O Allaghan, Albert" sort="Selva O Allaghan, Albert" uniqKey="Selva O Allaghan A" first="Albert" last="Selva-O Allaghan">Albert Selva-O Allaghan</name><affiliation><nlm:aff id="A9">Department of Internal Medicine, Vall d’Hebron Hospital, Passeig Vall d’Hebron, Barcelona 08035, Spain</nlm:aff></affiliation></author><author><name sortKey="Hanna, Michael G" sort="Hanna, Michael G" uniqKey="Hanna M" first="Michael G." last="Hanna">Michael G. Hanna</name><affiliation><nlm:aff id="A10">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Machado, Pedro M" sort="Machado, Pedro M" uniqKey="Machado P" first="Pedro M." last="Machado">Pedro M. Machado</name><affiliation><nlm:aff id="A10">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Pachman, Lauren M" sort="Pachman, Lauren M" uniqKey="Pachman L" first="Lauren M." last="Pachman">Lauren M. Pachman</name><affiliation><nlm:aff id="A11">Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Reed, Ann M" sort="Reed, Ann M" uniqKey="Reed A" first="Ann M." last="Reed">Ann M. Reed</name><affiliation><nlm:aff id="A12">Department of Pediatrics, Duke University, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Rider, Lisa G" sort="Rider, Lisa G" uniqKey="Rider L" first="Lisa G." last="Rider">Lisa G. Rider</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Cobb, Joanna" sort="Cobb, Joanna" uniqKey="Cobb J" first="Joanna" last="Cobb">Joanna Cobb</name><affiliation><nlm:aff id="A13">Arthritis Research UK, NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Platt, Hazel" sort="Platt, Hazel" uniqKey="Platt H" first="Hazel" last="Platt">Hazel Platt</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Molberg, Yvind" sort="Molberg, Yvind" uniqKey="Molberg " first=" Yvind" last="Molberg"> Yvind Molberg</name><affiliation><nlm:aff id="A15">Department of Rheumatology, Oslo University Hospital, Oslo 0424, Norway</nlm:aff></affiliation></author><author><name sortKey="Benveniste, Olivier" sort="Benveniste, Olivier" uniqKey="Benveniste O" first="Olivier" last="Benveniste">Olivier Benveniste</name><affiliation><nlm:aff id="A16">Pitié-Salpêtrière Hospital, UPMC, APHP, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Mathiesen, Pernille" sort="Mathiesen, Pernille" uniqKey="Mathiesen P" first="Pernille" last="Mathiesen">Pernille Mathiesen</name><affiliation><nlm:aff id="A17">Paediatric Department, Naestved Hospital, Næstved 4700, Denmark</nlm:aff></affiliation></author><author><name sortKey="Radstake, Timothy" sort="Radstake, Timothy" uniqKey="Radstake T" first="Timothy" last="Radstake">Timothy Radstake</name><affiliation><nlm:aff id="A18">Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Doria, Andrea" sort="Doria, Andrea" uniqKey="Doria A" first="Andrea" last="Doria">Andrea Doria</name><affiliation><nlm:aff id="A19">Department of Medicine, University of Padova, 35128 Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name><affiliation><nlm:aff id="A20">Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Paepe, Boel" sort="De Paepe, Boel" uniqKey="De Paepe B" first="Boel" last="De Paepe">Boel De Paepe</name><affiliation><nlm:aff id="A20">Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Maurer, Britta" sort="Maurer, Britta" uniqKey="Maurer B" first="Britta" last="Maurer">Britta Maurer</name><affiliation><nlm:aff id="A21">Department of Rheumatology and Center of Experimental Rheumatology, University Hospital Zurich, Zurich CH-8091, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Ollier, William E" sort="Ollier, William E" uniqKey="Ollier W" first="William E." last="Ollier">William E. Ollier</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Padyukov, Leonid" sort="Padyukov, Leonid" uniqKey="Padyukov L" first="Leonid" last="Padyukov">Leonid Padyukov</name><affiliation><nlm:aff id="A3">Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, 171 76, Sweden</nlm:aff></affiliation></author><author><name sortKey="O Anlon, Terrance P" sort="O Anlon, Terrance P" uniqKey="O Anlon T" first="Terrance P." last="O Anlon">Terrance P. O Anlon</name><affiliation><nlm:aff id="A4">Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</nlm:aff></affiliation></author><author><name sortKey="Lee, Annette" sort="Lee, Annette" uniqKey="Lee A" first="Annette" last="Lee">Annette Lee</name><affiliation><nlm:aff id="A5">The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I." last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A22">Geisel School of Medicine, Dartmouth College, Hanover, NH 03750, USA</nlm:aff></affiliation></author><author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name><affiliation><nlm:aff id="A23">Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), D-85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><nlm:aff id="A24">Institute of Human Genetics, Technische Universität München, 81675, Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A25">Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation><nlm:aff id="A26">Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Wedderburn, Lucy R" sort="Wedderburn, Lucy R" uniqKey="Wedderburn L" first="Lucy R" last="Wedderburn">Lucy R. Wedderburn</name><affiliation><nlm:aff id="A28">Arthritis Research UK Centre for Adolescent Rheumatology, and Institute of Child Health, University College London, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Chinoy, Hector" sort="Chinoy, Hector" uniqKey="Chinoy H" first="Hector" last="Chinoy">Hector Chinoy</name><affiliation><nlm:aff id="A29">National Institute of Health Research Manchester Musculoskeletal Biomedical Research Unit, Centre for Musculoskeletal Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Lamb, Janine A" sort="Lamb, Janine A" uniqKey="Lamb J" first="Janine A" last="Lamb">Janine A. Lamb</name><affiliation><nlm:aff id="A14">Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Annals of the rheumatic diseases</title><idno type="ISSN">0003-4967</idno><idno type="eISSN">1468-2060</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of rare autoimmune diseases characterized by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. We genotyped 2,566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised of dermatomyositis (DM, n=879), juvenile dermatomyositis (JDM, n=481), polymyositis (PM, n=931) and inclusion body myositis (IBM, n=252) patients collected from 14 countries through the Myositis Genetics Consortium. The human leukocyte antigen (<italic>HLA</italic>) and <italic>PTPN22</italic> regions reached genome-wide significance (p<5×10<sup>−8</sup>). Nine regions were associated at a significance level of p<2.25×10<sup>−5</sup>, including <italic>UBE2L3</italic>, <italic>CD28</italic> and <italic>TRAF6,</italic> with evidence of independent effects within <italic>STAT4</italic>. Analysis of clinical subgroups revealed distinct differences between PM, and DM and JDM. <italic>PTPN22</italic> was associated at genome-wide significance with PM, but not DM and JDM, suggesting this effect is driven by PM. Additional suggestive associations including <italic>IL18R1</italic> and <italic>RGS1</italic> in PM and <italic>GSDMB</italic> in DM were identified. HLA imputation confirmed that alleles <italic>HLA-DRB1*03:01</italic> and <italic>HLA-B*08:01</italic> of the 8.1 ancestral haplotype (8.1AH) are most strongly associated with IIM, and provides evidence that amino acids within the HLA, such as <italic>HLA-DQB1</italic> position 57 in DM, may explain part of the risk in this locus. Associations with alleles outside the 8.1AH reveal differences between PM, DM, and JDM. This work represents the largest IIM genetic study to date, reveals new insights into the genetic architecture of these rare diseases and suggests different predominating pathophysiology in different clinical subgroups.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0372355</journal-id><journal-id journal-id-type="pubmed-jr-id">640</journal-id><journal-id journal-id-type="nlm-ta">Ann Rheum Dis</journal-id><journal-id journal-id-type="iso-abbrev">Ann. Rheum. Dis.</journal-id><journal-title-group><journal-title>Annals of the rheumatic diseases</journal-title></journal-title-group><issn pub-type="ppub">0003-4967</issn><issn pub-type="epub">1468-2060</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26362759</article-id><article-id pub-id-type="pmc">5300750</article-id><article-id pub-id-type="doi">10.1136/annrheumdis-2015-208119</article-id><article-id pub-id-type="manuscript">NIHMS847779</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Dense Genotyping of Immune-Related Loci in the Idiopathic Inflammatory Myopathies Confirms HLA alleles as Strongest Genetic Risk Factor and Suggests Different Genetic Background for Major Clinical Subgroups</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rothwell</surname><given-names>Simon</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Cooper</surname><given-names>Robert G.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lundberg</surname><given-names>Ingrid E.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>Frederick W.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Gregersen</surname><given-names>Peter K.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bowes</surname><given-names>John</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Vencovsky</surname><given-names>Jiri</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Danko</surname><given-names>Katalin</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Limaye</surname><given-names>Vidya</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Selva-O’Callaghan</surname><given-names>Albert</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Hanna</surname><given-names>Michael G.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Machado</surname><given-names>Pedro M.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Pachman</surname><given-names>Lauren M.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Reed</surname><given-names>Ann M.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Rider</surname><given-names>Lisa G.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Cobb</surname><given-names>Joanna</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Platt</surname><given-names>Hazel</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Molberg</surname><given-names>Øyvind</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Benveniste</surname><given-names>Olivier</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Mathiesen</surname><given-names>Pernille</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Radstake</surname><given-names>Timothy</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Doria</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>De Bleecker</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>De Paepe</surname><given-names>Boel</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Maurer</surname><given-names>Britta</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Ollier</surname><given-names>William E.</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Padyukov</surname><given-names>Leonid</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>O’Hanlon</surname><given-names>Terrance P.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Annette</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Amos</surname><given-names>Christopher I.</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Gieger</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Meitinger</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Winkelmann</surname><given-names>Juliane</given-names></name><xref ref-type="aff" rid="A26">26</xref><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Wedderburn</surname><given-names>Lucy R</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Chinoy</surname><given-names>Hector</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Lamb</surname><given-names>Janine A</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><collab>Myositis Genetics Consortium</collab></contrib></contrib-group><aff id="A1"><label>1</label>Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK</aff><aff id="A2"><label>2</label>Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L69 3GA, UK</aff><aff id="A3"><label>3</label>Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, 171 76, Sweden</aff><aff id="A4"><label>4</label>Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Science, National Institutes of Health, Bethesda, MD 20892-1301, USA</aff><aff id="A5"><label>5</label>The Robert S Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA</aff><aff id="A6"><label>6</label>Institute of Rheumatology and Department of Rheumatology, 1<sup>st</sup> Faculty of Medicine, Charles University, Prague, 12850, Czech Republic</aff><aff id="A7"><label>7</label>Division of Clinical Immunology, Department of Internal Medicine, University of Debrecen, Hungary</aff><aff id="A8"><label>8</label>Royal Adelaide Hospital and University of Adelaide, North Tce, Adelaide, Australia</aff><aff id="A9"><label>9</label>Department of Internal Medicine, Vall d’Hebron Hospital, Passeig Vall d’Hebron, Barcelona 08035, Spain</aff><aff id="A10"><label>10</label>MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK</aff><aff id="A11"><label>11</label>Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA</aff><aff id="A12"><label>12</label>Department of Pediatrics, Duke University, Durham, NC 27710, USA</aff><aff id="A13"><label>13</label>Arthritis Research UK, NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PT, UK</aff><aff id="A14"><label>14</label>Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, M13 9PT, UK</aff><aff id="A15"><label>15</label>Department of Rheumatology, Oslo University Hospital, Oslo 0424, Norway</aff><aff id="A16"><label>16</label>Pitié-Salpêtrière Hospital, UPMC, APHP, Paris 75013, France</aff><aff id="A17"><label>17</label>Paediatric Department, Naestved Hospital, Næstved 4700, Denmark</aff><aff id="A18"><label>18</label>Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands</aff><aff id="A19"><label>19</label>Department of Medicine, University of Padova, 35128 Padova, Italy</aff><aff id="A20"><label>20</label>Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, 9000 Ghent, Belgium</aff><aff id="A21"><label>21</label>Department of Rheumatology and Center of Experimental Rheumatology, University Hospital Zurich, Zurich CH-8091, Switzerland</aff><aff id="A22"><label>22</label>Geisel School of Medicine, Dartmouth College, Hanover, NH 03750, USA</aff><aff id="A23"><label>23</label>Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), D-85764 Neuherberg, Germany</aff><aff id="A24"><label>24</label>Institute of Human Genetics, Technische Universität München, 81675, Munich, Germany</aff><aff id="A25"><label>25</label>Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</aff><aff id="A26"><label>26</label>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany</aff><aff id="A27"><label>27</label>Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany</aff><aff id="A28"><label>28</label>Arthritis Research UK Centre for Adolescent Rheumatology, and Institute of Child Health, University College London, London, WC1N 1EH, UK</aff><aff id="A29"><label>29</label>National Institute of Health Research Manchester Musculoskeletal Biomedical Research Unit, Centre for Musculoskeletal Research, University of Manchester, Manchester, M13 9PT, UK</aff><author-notes><corresp id="FN1">Corresponding Author: Simon Rothwell, Centre for Genetics and Genomics, Arthritis Research UK, University of Manchester, Manchester, M13 9PT, UK, <email>s.rothwell@manchester.ac.uk</email>, Phone: 07979501439</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>3</day><month>2</month><year>2017</year></pub-date><pub-date pub-type="epub"><day>11</day><month>9</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>8</month><year>2017</year></pub-date><volume>75</volume><issue>8</issue><fpage>1558</fpage><lpage>1566</lpage><pmc-comment>elocation-id from pubmed: 10.1136/annrheumdis-2015-208119</pmc-comment>
<abstract><p id="P1">The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of rare autoimmune diseases characterized by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. We genotyped 2,566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised of dermatomyositis (DM, n=879), juvenile dermatomyositis (JDM, n=481), polymyositis (PM, n=931) and inclusion body myositis (IBM, n=252) patients collected from 14 countries through the Myositis Genetics Consortium. The human leukocyte antigen (<italic>HLA</italic>) and <italic>PTPN22</italic> regions reached genome-wide significance (p<5×10<sup>−8</sup>). Nine regions were associated at a significance level of p<2.25×10<sup>−5</sup>, including <italic>UBE2L3</italic>, <italic>CD28</italic> and <italic>TRAF6,</italic> with evidence of independent effects within <italic>STAT4</italic>. Analysis of clinical subgroups revealed distinct differences between PM, and DM and JDM. <italic>PTPN22</italic> was associated at genome-wide significance with PM, but not DM and JDM, suggesting this effect is driven by PM. Additional suggestive associations including <italic>IL18R1</italic> and <italic>RGS1</italic> in PM and <italic>GSDMB</italic> in DM were identified. HLA imputation confirmed that alleles <italic>HLA-DRB1*03:01</italic> and <italic>HLA-B*08:01</italic> of the 8.1 ancestral haplotype (8.1AH) are most strongly associated with IIM, and provides evidence that amino acids within the HLA, such as <italic>HLA-DQB1</italic> position 57 in DM, may explain part of the risk in this locus. Associations with alleles outside the 8.1AH reveal differences between PM, DM, and JDM. This work represents the largest IIM genetic study to date, reveals new insights into the genetic architecture of these rare diseases and suggests different predominating pathophysiology in different clinical subgroups.</p></abstract><kwd-group><kwd>Genetics</kwd><kwd>idiopathic inflammatory myopathy</kwd><kwd>myositis</kwd><kwd>HLA</kwd><kwd>association</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001C97 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001C97 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |