ACR Meeting Abstracts

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Abstracts tagged "GWAS"

  • Abstract Number: 2405 • 2017 ACR/ARHP Annual Meeting

    Biological Function Integrated Prediction of Severe Radiographic Progression in Rheumatoid Arthritis: A Nested Case Control Study

    Young Bin Joo1, Yul Kim2, Youngho Park3, Kwangwoo Kim4, Jeong Ah Ryu5, Seunghun Lee6, So-Young Bang7, Hye-Soon Lee8, Gwan-Su Yi9 and Sang-Cheol Bae7, 1Internal Medicine, St. Vincent's Hospital, The Catholic University of Korea, Suwon, Korea, Republic of (South), 2Bio and Brain Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea, Republic of (South), 3Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), 44Department of Biology, Kyung Hee University, Seoul, Korea, Republic of (South), 5Department of Radiology, Hanyang University Hospital, Seoul, Korea, Republic of (South), 617 Haengdang-Dong, Seongdong-G, Hanyang University Hospital, Seoul, Korea, Republic of (South), 7Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), 8Hanyang University Guri Hospital, Gyeonggi-do, Korea, Republic of (South), 9Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea, Republic of (South)

    Background/Purpose: Radiographic progression is reported to be highly heritable in rheumatoid arthritis (RA). However, previous study using genetic loci showed an insufficient accuracy of prediction…
  • Abstract Number: 18 • 2017 Pediatric Rheumatology Symposium

    Bridging the gap between GWAS and mechanism in juvenile idiopathic arthritis using a novel high-throughput experimental screen

    Gang Li1, Marta Martinez-Bonet1, Di Wu2, Jing Cui3 and Peter A. Nigrovic1,4, 1Brigham and Women's Hospital, Boston, MA, 2University of North Carolina, Chapel Hill, Chapel Hill, NC, 3Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 4Division of Immunology, Boston Children's Hospital, Boston, MA

    Background/Purpose:  Genome wide association studies (GWAS) have identified 27 non-HLA loci that convey risk for oligoarticular and seronegative polyarticular JIA. Most associated haplotypes bear no…
  • Abstract Number: 2273 • 2016 ACR/ARHP Annual Meeting

    Trans-Ancestral Meta-Analysis Identifies Nine New Loci Associated with Serum Uric Acid Concentrations

    James Boocock1, Eli A. Stahl2, David B. Mount3, Tony R. Merriman4, Hyon K. Choi5, Yukinori Okada6, Murray Cadzow1 and Ruth Topless1, 1University of Otago, Dunedin, New Zealand, 2Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, 3Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 4Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, 5Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 6Osaka University, Osaka, Japan

      Background/Purpose: Serum uric acid is an important biomarker for gout disease and kidney function. Genome-wide association study (GWAS) meta-analyses have identified 28 loci in…
  • Abstract Number: 2410 • 2016 ACR/ARHP Annual Meeting

    Genetic Architecture of Systemic Juvenile Idiopathic Arthritis Distinguishes It from Oligoarticular and Polyarticular Forms of Juvenile Idiopathic Arthritis

    Michael J. Ombrello1, Victoria Arthur1, Elaine F. Remmers2, Anne Hinks3, Alexei Grom4, Dirk Föll5, Alberto Martini6, Marco Gattorno7, Seza Ozen8, Sampath Prahalad9, Andrew Zeft10, John F. Bohnsack11, Norman Ilowite12, Ricardo Russo13, Elizabeth D. Mellins14, Claudio A. Len15, Maria Odete E. Hilário16, Sheila Oliveira17, Rae S.M. Yeung18, Alan Rosenberg19, Lucy R. Wedderburn20, Jordi Anton21, Johannes Peter Haas22, Angela Rösen-Wolff23, Klaus Tenbrock24, Susan D Thompson25, Daniel L. Kastner26, Patricia Woo27, Wendy Thomson28 and International Childhood Arthritis Genetics (INCHARGE) Consortium, 1Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD, 2National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 3ARC Epidemiology Unit, University of Manchester, Manchester, United Kingdom, 4Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5University of Muenster, Muenster, Germany, 6Istituto Giannina Gaslini, Genoa, Italy, 7UO Pediatria 2, Istituto Giannina Gaslini, Genova, Italy, 8Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey, 9Pediatric Rheumatology, Emory University School of Medicine, Atlanta, GA, 10Pediatrics Rheumatology, Cleveland Clinic, Cleveland, OH, 11Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT, 12Rheumatology, Children's Hospital Montefiore, Bronx, NY, 13Hospital de Pediatria Garrahan, Buenos Aires, Argentina, 14Dept of Pediatrics CCSR, Stanford University Med Ctr, Stanford, CA, 15Pediatrics, Universidade Federal de São Paulo, São Paulo,, Brazil, 16Pediatric Rheumatology Collaborative Study Group (PRCSG), Cincinnati, OH, 17Pediatric Rheumatology, Universidade F Rio De Janeiro, Rio De Janeiro, Brazil, 18Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 19Pediatrics, Pediatrics, Saskatoon, SK, Canada, 20Institute of Child Health, UCL, London, United Kingdom, 21Unitat de Reumatologia Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain, 22German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, 23Children's Hospital Dresden, Dresden, Germany, 24University Aachen, Aachen, Germany, 25Division of Rheumatology, Cincinnati Children's Hospital, Cincinnati, OH, 26Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 27Great Ormond Street Hospital, University College London Medical School, London, United Kingdom, 28Arthritis Research UK Centre for Genetics and Genomics,The University of Manchester, Manchester, United Kingdom

    Background/Purpose:  JIA is a heterogeneous group of conditions that are unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA)…
  • Abstract Number: 2411 • 2016 ACR/ARHP Annual Meeting

    Multiple Genetic Susceptibility Loci in Juvenile Idiopathic Arthritis Are Bound By a Set of Transcription Factors

    Leah C. Kottyan1, Halima Moncrieffe2, Xiaoting Chen3, Mario Pujato4, John B. Harley5, Matthew Weirauch6 and Susan D. Thompson7, 13333 Burnet Ave., Cincinnati, Cincinnati, OH, 2Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Cincinnati Childrens Hospital, Cincinnati, OH, 41Center of Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center; University of Cincinnati, Cincinnati, OH, 5Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Childrens Hospital, Cincinnati, OH, 6Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 7Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Genome wide association studies (GWASs) and dense genotyping of immune-related disease regions have identified 17 loci associated with juvenile idiopathic arthritis (JIA) (p<5×10-8), 11…
  • Abstract Number: 2720 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Study of Clinical Phenotypes in Psoriatic Arthritis

    Juan D. Cañete1, Jose A Pinto-Tasende2, Jordi Gratacós3, Rubén Queiro4, Carlos Alberto Montilla Morales5, Juan Carlos Torre-Alonso6, Jose Javier Perez Venegas7, Antonio Fernandez-Nebro8, Santiago Muñoz9, Carlos Gonzalez10, Daniel Roig11, Pedro Zarco12, Alba Erra13, Jesus Rodriguez14, Santos Castañeda15, Esteban Rubio-Romero16, Georgina Salvador17, Cesar Diaz-Torné18, Ricardo Blanco19, Alfredo Willisch20, Jose Antonio Mosquera21, Paloma Vela22, Jesús Tornero23, Simon Sanchez Fernandez24, Hector Corominas25, Julio Ramírez26, Maria López-Lasanta27, Mireia López28, Raül Tortosa29, Antonio Julià29 and Sara Marsal30, 1Rheumatology Department, Hospital Clínic de Barcelona, Barcelona, Spain, 2Rheumatology Division, INIBIC-Complejo Hospitalario Universitario A Coruña (CHUAC), A Coruna, Spain, 3Rheumatology, Hospital de Sabadell, Sabadell, Spain, 4H Central de Asturias, Oviedo, Spain, 5Rheumatology, HOSPITAL CLÍNICO UNIVERSITARIO DE SALAMANCA, Salamanca, Spain, 6H Monte Naranco, Oviedo, Spain, 7Rheumatology, Hospital de Jerez de la Frontera, Jerez de la Frontera, Spain, 8Rheumatology, Hospital Universitario Carlos Haya, Malaga, Spain, 9Rheumatology, Hospital Infanta Sofia, Madrid, Spain, 10Servicio de Reumatología, Hospital Universitario Gregorio Marañón, MD, PhD, Madrid, Spain, 11Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, 12H Fundación Alcorcón, Alcorcón, Spain, 13CapiCAT group (Nailfold Capillaroscopy group from the Catalan Society for Rheumatology)., Catalonia, Spain, 14Rheumatology, Hospital Universitari de Bellvitge, Barcelona, Spain, 15Rheumatology, Hospital de la Princesa, IIS-IP, Madrid, Spain, 16Rheumatology, Rheumatology, Seville, Spain, 17Rheumatology Unit., Hospital Mutua de Terrassa. Barcelona, Barcelona, Spain, 18Rheumatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, 19Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, 20Complexo Hospitalario de Ourense, Ourense, Spain, 21Servicio de Reumatología, Complejo Hospitalario Hospital Provincial de Pontevedra, Pontevedra, Spain, 22Dpt. Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, 23Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, 24Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, 25Rheumatology, Hospital Moises Broggi, Barcelona, Spain, 26Rheumatology, Hospital Clínic, Barcelona, Spain, 27Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 28Servicio de Reumatología, Hospital Universitario Vall d´Hebron, Barcelona, Spain, 29Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 30Rheumatology Research Unit, Vall d'Hebron Hospital, Barcelona, Spain

    Background/Purpose: Genome-wide association studies (GWAS) in patients and healthy controls have allowed the identification of multiple variants associated with disease risk in Psoriatic Arthritis (PsA).…
  • Abstract Number: 58 • 2016 ACR/ARHP Annual Meeting

    Detecting Novel Candidate Risk Genes in Rheumatoid Arthritis with Gene-Based Association Testing

    Aleksander Lenert1 and David Fardo2, 1Internal Medicine, Div. of Rheumatology, University of Kentucky, Lexington, KY, 2Biostatistics, College of Public Health, University of Kentucky, Lexington, KY

    Background/Purpose: Rheumatoid arthritis (RA) is driven by immune-system dysfunction with contribution from genetic risk factors. Emerging data from genomewide association studies (GWAS) of single nucleotide…
  • Abstract Number: 2879 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Pathway Analysis Reveals That VEGF Genetic Pathway Is Associated with Oral Ulcers in Systemic Lupus Erythematosus

    Antonio Julià1, Patricia Carreira2, Ricardo Blanco3, Victor Martinez Taboada4, Luis Carreño5, Jose Javier Perez Venegas6, Alejandro Olivé7, Jose Luis Andreu8, Maria Ángeles Aguirre Zamorano9, Paloma Vela10, Joan Miquel Nolla11, José Luis Marenco de la Fuente12, Antonio Zea13, JM Pego-Reigosa14, Mercedes Freire15, Elvira Diez Alvarez16, Adrìa Aterido1, Arnald Alonso1, Maria López-Lasanta17, Mireia López18, Raül Tortosa1, Sara Marsal19 and Antonio Fernandez-Nebro20, 1Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 2Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, 3Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, 4Hospital Marqués de Valdecilla., Santander, Spain, 5Rheumatology, HGU Gregorio Marañón, Madrid, Spain, 6Rheumatology, Hospital de Jerez de la Frontera, Jerez de la Frontera, Spain, 7Rheumatology, Hospital Universitario Germans Trias i Pujol, Barcelona, Spain, 8Rheumatology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain, 9Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 10Dpt. Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, 11Rheumatology, Bellvitge University Hospital, Barcelona, Spain, 12Rheumatology, Hospital de Valme, Seville, Spain, 13Hospital Ramón y Cajal. Madrid, Madrid, Spain, 14Rheumatology Section, Hospital de Meixoeiro, Pontevedra, Spain, Vigo, Spain, 15Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo HospitalarioUniversitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 16Rheumatology, Hospital de León, León, Spain, 17Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 18Servicio de Reumatología, Hospital Universitario Vall d´Hebron, Barcelona, Spain, 19Rheumatology Research Unit, Vall d'Hebron Hospital, Barcelona, Spain, 20Rheumatology, Hospital Universitario Carlos Haya, Malaga, Spain

    Background/Purpose: Systemic lupus erythematosus (SLE) is a genetically complex rheumatic disease with heterogeneous clinical manifestations. Recent studies have suggested the existence of a genetic basis…
  • Abstract Number: 3123 • 2016 ACR/ARHP Annual Meeting

    Rare Mediterranean Fever (MEFV) Gene Polymorphisms Are Associated with Ankylosing Spondylitis in Turkish and Iranian Population

    Zhixiu Li1, Servet Akar2, Handan Yarkan3, Pinar Cetin3, Gerçek Can3, Gökce Kenar3, Omer Nuri Pamuk4, Yavuz Pehlivan5, Katie Cremin6, Erika De Guzman1, Jessica Harris1, Ahmad Reza Jamshidi7, Mahdi Vojdanian7, Nooshin Ahmadzadeh7, Mahdi Mahmoudi7, Matthew A. Brown1 and Nurullah Akkoc3, 1Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, 2Department of Rheumatology, İzmir Katip Çelebi University, School of Medicine, İzmir, Turkey, İzmir, Turkey, 3Department of Rheumatology, Dokuz Eylul University, Faculty of Medicine, İzmir, Turkey, İzmir, Turkey, 4Department of Rheumatology, Trakya University Medical Faculty, Edirne, Turkey, Edirne, Turkey, 5Department of Rheumatology, Uludag University Medical Faculty, Bursa, Turkey, Bursa, Turkey, 6The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, 7Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran, Tehran, Iran (Islamic Republic of)

    Background/Purpose: Ankylosing spondylitis (AS) is a highly heritable inflammatory arthritis common in both Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive…
  • Abstract Number: 76 • 2016 ACR/ARHP Annual Meeting

    Chromatin Interactions Reveal Novel Gene Targets for Drug Repositioning in Rheumatic Diseases

    Paul Martin1, Amanda McGovern1, Kate Duffus1, Annie Yarwood1, Anne Barton2,3, Jane Worthington1,2, Stephen Eyre1 and Gisela Orozco3, 1Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, 2NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom, 3Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom

    Background/Purpose: The treatment of rheumatic diseases can be both expensive and ineffective with up to 1/3 of patient’s failing to respond to current treatments. There…
  • Abstract Number: 804 • 2016 ACR/ARHP Annual Meeting

    Combined-Phenotype Meta-GWAS in Systemic Sclerosis and Rheumatoid Arthritis Identifies IRF4 As a New Common Susceptibility Locus

    Elena Lopez-Isac1, Shervin Assassi2, Carmen Pilar Simeón3, Patricia Carreira4, Norberto Ortego Centeno5, Benjamin Fernandez Gutierrez6, Alejandro Balsa7, Miguel Angel González-Gay8, Lorenzo Beretta9, Claudio Lunardi10, Gianluca Moroncini11, Torsten Witte12, Nicolas Hunzelmann13, Joerg HW Distler14, Gabriela Riekemasten15, Annette HM van der Helm-van Mil16, Jeska K. de Vries-Bouwstra17, Cesar Magro-Checa18, Alexandre E. Voskuyl19, Madelon C. Vonk20, Øyvind Molberg21, Tony Merriman22, Roger Hesselstrand23, Annika Nordin24, Leonid Padyukov25, Ariane L. Herrick26, Stephen Eyre27, Christopher Denton28, Carmen Fonseca29, Timothy R.D.J. Radstake30, Jane Worthington31, Maureen D Mayes2 and Javier Martín1, 1Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, 2Department of Internal Medicine - Rheumatology, University of Texas-McGovern Medical School, Houston, TX, 3Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain, 4Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, 5Medicine Department, Hospital Universitario San Cecilio, Granada, Spain, 6Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 7Department of Rheumatology, Hospital La Paz, Madrid, Spain, 8School of Medicine, University of Cantabria, Santander, Spain, 9Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 10Department of Medicine, Università degli Studi di Verona, Verona, Italy, 11Dipartimento di Scienze mediche e Chirurgiche, Università politecnica delle Marche and Ospedali Riuniti, Ancona, Italy, 12Department of Clinical Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, 13Department of Dermatology, University of Cologne, Cologne, Germany, 14Department of Internal Medicine 3 – Rheumatology and Immunology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany, 15Department of Rheumatology, University of Lübeck, Luebeck, Germany, 16Rheumatology, Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 17Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 18Department of Rheumatology, Leiden University Medical Center, Leiden, Spain, 19Rheumatology, Amsterdam Rheumatology and immunology Center, Location VU University Medical Center, Amsterdam, Netherlands, 20Department of the Rheumatic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 21Rheumatology, Oslo University Hospital, Oslo, Norway, 22Department of Biochemistry, University of Otago, Otago, New Zealand, 23Department of Rheumatology, Lund University, Lund, Sweden, 24Department of Rheumatology, Karolinska Institute, Stockholm, Sweden, 25Unit of Rheumatology, Department of Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden, 26Centre for Musculoskeletal Research, University of Manchester, MAHSC, Salford Royal Hospital, Manchester, United Kingdom, 27The University of Manchester, Manchester, United Kingdom, 28Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, 29Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, 30Laboratory of Translational Immunology, UMC Utrecht, Utrecht, Netherlands, 31Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom

    Background/Purpose: Genome-wide association studies (GWASs) have revolutionized our understanding of the genetic component of complex autoimmune diseases (ADs) by the identification of thousands of susceptibility…
  • Abstract Number: 872 • 2016 ACR/ARHP Annual Meeting

    New Insights into the Pathogenesis of Giant Cell Arteritis through a Genome-Wide Association Study

    Francisco David Carmona1, Augusto Vaglio2, Sarah Mackie3, José Hernández-Rodríguez4, Paul A. Monach5, Santos Castañeda6, Roser Solans7, Inmaculada C. Morado8, Francisco Javier Narváez9, Marc Ramentol-Sintas10, Colin T. Pease11, Bhaskar Dasgupta12, Richard Watts13, Nader A. Khalidi14, Carol A. Langford15, Steven R. Ytterberg16, Luigi Boiardi17, Lorenzo Beretta18, Marcello Govoni19, Giacomo Emmi20, Francesco Bonatti21, Marco A. Cimmino22, Torsten Witte23, Thomas Neumann24, Julia Holle25, Verena Schönau26, Laurent Sailler27, Thomas Papo28, Julien Haroche29, Alfred Mahr30, Luc Mouthon31, Øyvind Molberg32, Andreas P Diamantopoulos33, Alexandre E. Voskuyl34, Elisabeth Brouwer35, Thomas Daikeler36, Christoph Berger37, Eamonn S. Molloy38, Lorraine O'Neill39, Daniel Blockmans40, Benedicte A. Lie41, Paul Mclaren42, Timothy J. Vyse43, Cisca Wijmenga44, Yannick Allanore45, Bobby P.C. Koeleman46, Jennifer H. Barrett47, Maria C. Cid48, Carlo Salvarani49, Peter A. Merkel50, Ann W. Morgan51, Miguel Angel González-Gay52, Javier Martín1 and Spanish GCA Group, UKGCA Consortium, and Vasculitis Clinical Research Consortium, 1Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 2Nephrology, University Hospital of Parma, Parma, Italy, 3NIHR-Leeds Musculoskeletal Biomedical Research Unit and Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, University of Leeds, Leeds, United Kingdom, 4Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, 5Rheumatology, Boston University School of Medicine, Boston, MA, 6Rheumatology, Hospital de la Princesa, IIS-IP, Madrid, Spain, 7Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Spain, Barcelona, Spain, 8Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 9Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain, 10Internal Medicine, Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona, Spain, 11Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom, 12Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Sea, United Kingdom, 13Rheumatology, Ipswich Hospital NHS Trust, Ipswich, United Kingdom, 14Rheumatology, McMaster University, Hamilton, ON, Canada, 15Rheumatic and Immunologic Diseases, Cleveland Clinic, Cleveland, OH, 16Rheumatology, Mayo Clinic, Rochester, MN, 17Rheumatology Unit, Department of Internal Medicine, Arcispedale Santa Maria Nuova - IRCCS, Reggio Emilia, Italy, 18Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 19Medical Sciences, UOC of Rheumatology, University Hospital S. Anna, Cona Ferrara, Italy, 20Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy, 21Clinical and Experimental Medicine, Medical Genetics Unit, University of Parma, Parma, Italy, 22Research Laboratory and Academic Unit of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Genova, Italy, 23Department of Clinical Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, 24Internal Medicine III, Jena University Hospital, Jena, Germany, 25Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt, Germany, 26Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen, Germany, 27Internal Medicine, Internal Medicine department, Toulouse University Hospital, Toulouse, France, 28Internal Medicine, Hôpital Bichat, Université Paris-Diderot, Paris, France, 29Internal Medicine 2. Referal center for SLE/APS, Hôpital Pitié-Salpêtrière, AP-HP, UPMC Univ Paris 06 & French National Reference Center For Systemic Lupus and Antiphospholipid Syndrome, Paris, France, 30Internal Medicine, Hospital Saint-Louis, Paris, France, 31Internal Medicine, Referral Center for Rare Autoimmune and Systemic Diseases, Hôpital Cochin, AP–HP, Université Paris Descartes, Paris, France, Paris, France, 32Rheumatology, Oslo University Hospital, Oslo, Norway, 33Rheumatology, Haugesund Sanitetsforenings Revmatismesykehus, Haugesund, Norway, 34Rheumatology, Amsterdam Rheumatology and immunology Center, Location VU University Medical Center, Amsterdam, Netherlands, 35Rheumatology and Clinical Immunology, University of Groningen and University Medical Center Groningen, Groningen, Netherlands, 36Rheumatology, University Hospital Basel, Basel, Switzerland, 37Internal medicine, University hospital Basel, basel, Switzerland, 38Rheumatology, Centre for Arthritis and Rheumatic Diseases, Dublin Academic Medical Centre, St Vincent's University Hospital, Dublin, Ireland, 39Rheumatology, St. Vincent's University Hospital, Dublin, Ireland, 40General Internal Medicine, University Hospitals Gasthuisberg, Leuven, Belgium, 41Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, 42Swiss Institute of Bioinformatics, Lausanne, Switzerland, 43Division of Immunology, Infection and Inflammatory Disease, King’s College London, London, United Kingdom, 44Genetics, University Medical Hospital Groningen, University of Groningen, Groningen, Netherlands, 45Rheumatology, Paris Descartes University, Paris, France, 46Medical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands, 47NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds, United Kingdom, 48Autoimmune and Systemic Diseases, Hospital Clínic. University of Barcelona. IDIBAPS, Barcelona, Spain, 49Rheumatology, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy, 50Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, 51Section of Musculoskeletal Disease, NIHR-Leeds Musculoskeletal Biomedical Research Unit and Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom, 52Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander, Spain

    Background/Purpose:  Giant cell arteritis (GCA) is an immune-mediated polygenic disease characterized by inflammatory lesions in medium- and large-sized arteries. The aim of the present study…
  • Abstract Number: 1199 • 2016 ACR/ARHP Annual Meeting

    A Genome-Wide Association Study of Methotrexate-Pneumonitis in Rheumatoid Arthritis: Results from the Pneumonitis Study Consortium

    James Bluett1, Sally-Ann Owen1, Jonathan Massey2, Darren Plant2, Munir Pirmohamed3, Suzanne M.M. Verstappen4 and Anne Barton5,6, 1Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester, United Kingdom, 2NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, United Kingdom, 3Institute of Translational Medicine, The University of Liverpool, Liverpool, United Kingdom, 4Arthritis Research UK Centre for Epidemiology, The University of Manchester, Manchester, United Kingdom, 5NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academic Health Science Centre, Manchester, United Kingdom, 6Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK, Manchester, United Kingdom

    Background/Purpose: Methotrexate (MTX) is associated with a rare but potentially life-threatening lung disease, MTX-pneumonitis (MTX-P). MTX-P is an idiosyncratic hypersensitivity reaction to MTX inducing inflammation,…
  • Abstract Number: 1212 • 2016 ACR/ARHP Annual Meeting

    A Combined Large Scale Meta-Analysis Identifies COG6 As a Novel Shared Risk Locus for Rheumatoid Arthritis and Systemic Lupus Erythematosus

    Ana Márquez1, Laura Vidal-Bralo2, Luis Rodriguez-Rodriguez3, Miguel Angel González-Gay4, Alejandro Balsa5, Isidoro Gonzalez-Alvaro6, Patricia Carreira7, Norberto Ortego Centeno8, Maria del Mar Ayala Gutierrez9, Francisco José García-Hernández10, Francisca González Escribano11, José Mario Sabio12, Carles Tolosa13, Ana Suárez14, Antonio Gonzalez15, Leonid Padyukov16, Jane Worthington17, Timothy J. Vyse18,19, Marta E. Alarcon Riquelme20,21 and Javier Martín1, 1Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 2Instituto Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, 3Rheumatology Department and Heath Research Institute (IdISSC), Hospital Clinico San Carlos, Madrid, Spain, 4Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander, Spain, 5Department of Rheumatology and Institute for Health Research (IdiPAZ), University Hospital La Paz, Madrid, Spain, 6Rheumatology, Rheumatology Service, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, 7Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, 8Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain, 9Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain, 10Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Sevilla, Spain, 11Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain, 12Department of Internal Medicine, Hospital Virgen de las Nieves, Granada, Spain, 13Department of Internal Medicine, Hospital Parc Taulí, Sabadell, Spain, 14Department of Functional Biology, Immunology Area, Faculty of Medicine, University of Oviedo, Oviedo, Spain, 15Laboratorio de Investigación 10 and Rheumatology Unit, Instituto de Investigación Sanitaria - Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, 16Department of Medicine, Rheumatology Unit, Karolinska Institutet, Stockholm, Sweden, 17Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 18Department of Medical and Molecular Genetics, King's College London, London, United Kingdom, 19Division of Immunology, Infection and Inflammatory Disease, King’s College London, London, United Kingdom, 20Centro de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucía, Granada, Spain, 21Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden

    Background/Purpose: One of the main limitations of the association studies in autoimmunity is the difficulty in identifying genetic risk variants with modest effects, given the…
  • Abstract Number: 1567 • 2016 ACR/ARHP Annual Meeting

    A Functional Genomic Screen of Rheumatoid Arthritis Risk Genes in Primary Human T Cells Reveals DDX6 As a Negative Modulator of Cytokine Expression

    Rumey Ishizawar1, Chantel Lester2, Jing Cui3, John Doench4, Robert Plenge5 and Michael Brenner6, 1Division of Rheumatology, Allergy, and Immunology and Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, 2Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, 3Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 4Broad Institute of MIT and Harvard, Cambridge, MA, 5Genetics & Pharmacogenomics, Merck Research Laboratories, Merck & Co., Boston, MA, 6Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA

    Background/Purpose:  In rheumatoid arthritis (RA), genome-wide association studies have identified over 100 risk alleles. A major challenge is identifying causal genes in RA risk loci. As…
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