ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 1104 • 2017 ACR/ARHP Annual Meeting

    A Genome-Wide Association Study of Gout in People of European Ancestry

    Tony R. Merriman1, Murray Cadzow1, Marilyn E. Merriman1, Amanda Phipps-Green1, Ruth Topless1, Abhishek Abhishek2, Mariano Andrés3, Linda A. Bradbury4, Russell Buchanan5, Katie Cremin6, Erika De Guzman6, Janak de Zoysa7, Michael Doherty8, Catherine Hill9, Tom W.J. Huizinga10, Tim Jansen11, M. Janssen12, Leo .A.B. Joosten13, Fina Kurreeman14, Susan Lester15, Frederic Liote16, Donia Macartney-Coxson17, Hirotaka Matsuo18, Geraldine M. McCarthy19, Sally McCormick20, Rinki Murphy21, Karel Pavelka22, Fernando Perez-Ruiz23, Juan Puig24, Timothy RDJ Radstake25, Philip Riches26, Maureen Rischmueller27, Edward Roddy28, Malcolm Smith29, Eli A. Stahl30, Blanka Stiburkova31, Richard Stubbs32, Anne-Kathrin Tausche33, Rosa Torres34, Rob Walker1, Ken Yamamoto35, Matthew A. Brown6, Hyon K. Choi36, Nicola Dalbeth21, Jeffrey N. Miner37, Alexander So38, Lisa K. Stamp39 and Tanya Major40, 1University of Otago, Dunedin, New Zealand, 2Devision of Rheumatology, University of Nottingham, NG5 1PB, England, 3Reumatología, Hospital General Universitario Alicante, Alicante, Spain, 4Queensland University of Technology, Brisbane, Australia, 5University of Melbourne, Melbourne, Australia, 6Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, 7Waitemata District Health Board, Auckland, New Zealand, 8Academic Rheumatology, University of Nottingham, Nottingham, Great Britain, 9Medicine, The University of Adelaide, Adelaide, Australia, 10Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 11VieCuri Medical Center, Venlo, Netherlands, 12Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, 13Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 14Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, Leiden, Netherlands, 15Rheumatology, Queen Elizabeth Hospital, Woodville South, Australia, 16University Paris Diderot, Paris, France, 17Institute if Environmental and Scientific Reseacrh, Wellington, New Zealand, 18Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, 19Div of Rheumatology, Mater Misericordiae University Hospital, Dublin, Ireland, 20Department of Biochemistry, University of Otago, Dunedin, New Zealand, 21University of Auckland, Auckland, New Zealand, 22Institute of Rheumatology, Prague, Czech Republic, 23BioCruces Health Research Institute, Barakaldo, Spain, 24Hospital Universitario La Paz, Madrid, Spain, 25Rheumatic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 26University of Edinburgh, Edinburgh, United Kingdom, 27Rheumatology, The Queen Elizabeth Hospital, South Australia, Adelaide, Australia, 28Research Institute for Primary Care and Health Sciences, Keele University, Keele, United Kingdom, 29Flinders Medical Centre and Repatriation Hospital, Adelaide, Australia, 30Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, 31Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic, 32P3 Research Limited, Wellington, New Zealand, 33Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, 34La Paz University Hospital, Madrid, Spain, 35Department of Medical Chemistry, Kurume University School of Medicine, Kurume, Japan, 36Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 37Discovery Biology, Ardea Biosciences, Inc., San Diego, CA, 38Rheumatology, CHUV, Univ of Lausanne, Lausanne, Switzerland, 39University of Otago, Christchurch, New Zealand, 40Biochemistry, University of Otago, Dunedin, New Zealand

    A genome-wide association study of gout in people of European ancestryBackground/Purpose: Genome wide association studies (GWAS) have provided considerable insight into the molecular control of…
  • Abstract Number: 1127 • 2017 ACR/ARHP Annual Meeting

    Replication of Genetic Association of Peroxisome Proliferator-Activated Receptor Gamma-1B with Gout in a New Zealand Polynesian Sample Set

    Amara Shaukat1, Tim Jansen2, M. Janssen3, Leo .A.B. Joosten4, Timothy Radstake5, Philip Riches6, Anne-Kathrin Tausche7, Jennie Harre Hindmarsh8, Nicola Dalbeth9, Lisa K. Stamp10 and Tony R. Merriman11, 1Univ Otago, Dunedin, New Zealand, 2VieCuri Medical Center, Venlo, Netherlands, 3Rheumatology Dept, Rijnstate Hospital, Arnhem, Netherlands, 4Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 5Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6University of Edinburgh, Edinburgh, United Kingdom, 7Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, 8Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 9University of Auckland, Auckland, New Zealand, 10University of Otago, Christchurch, New Zealand, 11Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: Gout results from formation of monosodium urate (MSU) crystals in the presence of hyperuricemia. Genome wide association studies have provided significant insights into hyperuricemia,…
  • Abstract Number: 68 • 2017 Pediatric Rheumatology Symposium

    HLA-DRB1 in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior Uveitis

    Lai Hin Kimi Chan1, Courtney McCracken1, Kirsten Jenkins2, Steven Yeh3, Purnima Patel4, Sampath Prahalad1 and Sheila Angeles-Han5, 1Pediatrics, Emory University School of Medicine, Atlanta, GA, 2Children's Healthcare of Atlanta, Atlanta, GA, 3Ophthalmology, Emory University School of Medicine, Atlanta, GA, 4Emory University School of Medicine, Atlanta, GA, 5Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH

    Background/Purpose: HLA-DRB1*08, 11 and 13 are strong risk alleles for various juvenile idiopathic arthritis (JIA) subtypes. We reported that carriage of DRB1*11 and *13 increased…
  • Abstract Number: 2420 • 2016 ACR/ARHP Annual Meeting

    Investigating Genome-Wide Inbreeding Coefficients and Age of Diagnosis in a Multi-Ethnic Population of Childhood-Onset Systemic Lupus Erythematosus (cSLE)

    Chen Di Liao1, Deanna Morra1, Daniela Dominguez1, Shazia Ali1, Deborah M. Levy2, Earl Silverman3, Andrew Paterson1 and Linda T Hiraki1, 1The Hospital for Sick Children, Toronto, ON, Canada, 2Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 3University of Toronto, Toronto, ON, Canada

    Background/Purpose: Genetics plays an important role in the pathogenesis of systemic lupus erythematosus (SLE). Up to 20% of those affected with SLE are diagnosed in…
  • Abstract Number: 3098 • 2016 ACR/ARHP Annual Meeting

    The Occurrence of Peripheral Arthritis Mutilans in Psoriatic Arthritis Is Associated with Certain Major Histocompatibility Class I Alleles

    Jon T. Giles1, Deepak R. Jadon2, Muhammad Haroon3, Jing Bi4, Eleanor Korendowych2, William Tillett2, Oliver FitzGerald5, Robert Winchester4 and Neil J. McHugh2, 1Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 2Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, 3St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland, 4Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 5St. Vincent's University Hospital, Department of Rheumatology. UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland

    Background/Purpose: Several human leukocyte antigen (HLA) Class I loci encoding the major histocompatibility complex (MHC) have been implicated both in psoriatic arthritis (PsA) susceptibility and…
  • Abstract Number: 3122 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide DNA Methylation Association Study of Hand Osteoarthritis

    Michelle S. Yau1,2, Roby Joehanes3, Yi-Hsiang Hsu3, Douglas P. Kiel4 and David T. Felson5, 1Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, 2Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, MA, 3Hebrew SeniorLife, Harvard Medical School, Boston, MA, 4Institute for Aging Research, Institute for Aging Research, Hebrew Senior Life, Harvard Medical School, Boston, MA, USA, Boston, MA, 5Arthritis Research UK Centre for Epidemiology, Institute of Inflammation and Repair, University of Manchester, Manchester, United Kingdom

    Background/Purpose: Heritability of hand osteoarthritis (OA) has been estimated to be as high as 65%.  Despite having a strong genetic component, genome-wide linkage and association…
  • Abstract Number: 71 • 2016 ACR/ARHP Annual Meeting

    A Rare Coding Allele in IFIH1 is Protective for Psoriatic Arthritis

    Ashley Budu-Aggrey1,2, John Bowes2, Philip E. Stuart3, Matthew Zawistowski4, Lam C. Tsoi4, Rajan P. Nair5, Eleanor Korendowych6, Neil J McHugh6, James T. Elder5, Anne Barton1,7,8 and Soumya Raychaudhuri9, 1NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, 2Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK, Manchester, United Kingdom, 3Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, 4Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 5University of Michigan Medical School, Ann Arbor, MI, 6Royal National Hospital for Rheumatic Diseases and Dept Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, 7Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, 8The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, United Kingdom, 9Brigham and Women's Hospital, Boston, MA

    Background/Purpose:  Psoriatic Arthritis (PsA) is an inflammatory arthritis associated with psoriasis estimated to present in approximately 14% of psoriasis patients in the UK. As a…
  • Abstract Number: 3161 • 2016 ACR/ARHP Annual Meeting

    The Association Between HLA Genetic Susceptibility Markers and Sonographic Enthesitis in Psoriatic Arthritis

    Ari Polachek1, Richard J. Cook2, Vinod Chandran1, Fatima Abji1, Dafna D Gladman3 and Lihi Eder4, 1Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, 2Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, 3University of Toronto, Toronto, ON, Canada, 4Rheumatology, University of Toronto, Women's College Hospital, Toronto, ON, Canada

    Background/Purpose: Enthesitis is an important pathophysiologic component in psoriatic arthritis (PsA). Ultrasound is emerging as an optimal method to evaluate enthesitis. HLA genes are implicated…
  • Abstract Number: 57 • 2016 ACR/ARHP Annual Meeting

    Genetic Polymorphism of IL-1RN Encoding the IL-1 Receptor Antagonist Predicts Radiographic Severity of Symptomatic Knee OA

    Mukundan Attur1, Sisi Ma2, Jonathan Samuels3, Svetlana Krasnokutsky Samuels4, Hua Zhou2, Jenny Bencardino5, Marc C. Hochberg6, Braxton Mitchell7, Virginia B. Kraus8, Joanne M. Jordan9 and Steven B. Abramson10, 1Rheumatology Research, NYU - Hospital for Joint Diseases, New York, NY, 2Bioinformatics, New York University, New York, NY, 3Rheumatology, NYU - Hospital for Joint Diseases, New York, NY, 4Medicine/Rheumatology, NYU School of Medicine/NYU Hospital for Joint Diseases, New York, NY, 5Radiology, NYU Langone Medical Center, New York, NY, 6University of Maryland School of Medicine, Baltimore, MD, USA, Baltimore, MD, 7Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, 8Department of Medicine, Duke University Medical Center, Durham, NC, 9Thurston Arthritis Research Center, University of North CArolina at Chapel Hill, Chapel Hill, NC, 10Dept of Rheumatology/Medicine, Hosp for Joint Diseases/NYU, New York, NY

    Background/Purpose: Growing numbers of studies show increased expression in Osteoarthritis (OA) of inflammatory cytokines, such as IL-1β and TNFα, in joint tissues and peripheral blood…
  • Abstract Number: 465 • 2016 ACR/ARHP Annual Meeting

    Genetic and Metabolic Signatures of Purified Synovial Macrophage Subsets during an Acute Murine Model of Inflammatory Arthritis

    Philip J. Homan1, Harris R. Perlman2 and Carla Cuda3, 1Medicine-Rheumatology, Northwestern University, Chicago, IL, 2Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL, 3Northwestern University, Chicago, IL

    Background/Purpose: Rheumatoid arthritis (RA) manifests in persistent synovial inflammation, cellular infiltration and pro-inflammatory cytokine production, and results in progressive joint destruction. Macrophages have been implicated in…
  • Abstract Number: 3162 • 2016 ACR/ARHP Annual Meeting

    Symmetric and Asymmetric Sacroiliitis Are Associated with Different Major Histocompatibility Class I Alleles in Psoriatic Arthritis

    Jon T. Giles1, Muhammad Haroon2, Deepak R. Jadon3, Raj Sengupta4, Alison L Nightingale5, Eleanor Korendowych3, Jing Bi6, Neil J. McHugh3, Oliver FitzGerald7 and Robert Winchester6, 1Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 2Rheumatology, Kerry General Hospital, Co Kerry, Ireland, 3Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, 4Rheumatology, Royal National Hospital for Rheumatic Diseases,, Bath, United Kingdom, 5Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, 6Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 7St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland

    Background/Purpose: HLA-B27 has been linked to sacroiliitis (SII) in psoriatic arthritis (PsA); however, the contribution to SII of other human leukocyte antigen (HLA) Class I…
  • Abstract Number: 488 • 2016 ACR/ARHP Annual Meeting

    Exploring the Association Between Air Pollutant Exposure and Seropositivity in Rheumatoid Arthritis

    Asha Mariam Alex1,2, Gary A. Kunkel3, Jorge Flautero Arcos4, Richard Amdur5 and Gail S. Kerr6, 1Rheumatology, Veterans Affairs Medical Center, Washington, DC, 2Rheumatology, Georgetown University Hospital, Washington, DC, 3Division of Rheumatology, George Wahlen VA Medical Center/University of Utah, Salt Lake City, UT, 4Rheumatology, Howard University Hospital, Washington, DC, 5Lead Biostatistician, Medical Faculty Associates Clinical Professor, Dept. of Surgery, George Washington University School of Medicine & Health Sciences, Washington, DC, 6Washington DC VAMC, Georgetown University Hospital, Howard University Hospital, Washington, DC

    Background/Purpose: The etiology of rheumatoid arthritis (RA) is multi-factorial, with expression of HLA-DRB1 shared epitope (SE), smoking and socioeconomic status (SES) exerting influence. Prior studies…
  • Abstract Number: 985 • 2016 ACR/ARHP Annual Meeting

    Effectiveness of a Web-Based Personalized Rheumatoid Arthritis Risk Tool with or without a Health Educator for Knowledge of RA Risk Factors

    Maria G. Prado1, Rachel Miller Kroouze1, Zhi Yu1, Maura D. Iversen2,3,4, Nellie A. Triedman1, Sarah S. Kalia5, Kevin D. Deane6, Karen H. Costenbader1, Bing Lu1, Robert C. Green5, Elizabeth W. Karlson1 and Jeffrey A. Sparks7, 1Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 2Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden, 3Physical Therapy, Movement and Rehabilitation Sciences, Northeastern University, Boston, MA, 4Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 5Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 7Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA

    Background/Purpose: Much progress has been made in identifying risk factors for RA, but it is unclear whether individuals at risk for RA have knowledge of…
  • Abstract Number: 1211 • 2016 ACR/ARHP Annual Meeting

    Allele-Dependent Binding of a Viral Protein to Autoimmune Disease-Associated Genetic Variants

    Matthew T. Weirauch1, Daniel Miller1, Leah C. Kottyan2, Ignacio Ibarra3, Sayeed Syed4, Xiaoting Chen1, Erin Zoller1, Arthur Lynch1, Connor Schroeder1, Josh Lee1, Albert Magnussen1, Ally Yang5, Timothy R. Hughes5, Joo-Seop Park1, Charles Vinson4 and John B. Harley6,7, 1Cincinnati Childrens Hospital, Cincinnati, OH, 2Center for Autoimmune Genomics and Etiology, Cincinnati Childrens Hospital, Cincinnati, OH, 3EMBL, Heidelberg, Germany, 4NCI, Bethesda, MD, 5University of Toronto, Toronto, ON, Canada, 6US Department of Veterans Affairs Medical Center, Cincinnati, OH, 7Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Childrens Hospital, Cincinnati, OH

    Methods: We tested the hypothesis that some autoimmune variants might act by altering the binding of the EBV-encoded transcription factor ZTA, consequently resulting in downstream…
  • Abstract Number: 1559 • 2016 ACR/ARHP Annual Meeting

    Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: A Genetic Association Study

    Pierre-Antoine Juge1, Raphaël Borie2, Caroline Kannengiesser3, Steven Gazal3, Patrick Revy4, Lidwine Wemeau-Stervinou5, Marie-Pierre Debray6, Sébastien Ottaviani7, Sylvain Adam-Marchand8, Nadia Nathan9, Gabriel Thabut10, Christophe Richez11, Hilario Nunes12, Isabelle Callebaut13, Aurélien Justet2, Nicolas Leulliot14, Amélie Bonnefond15, David Salgado16, Pascal Richette17, Jean-Pierre Desvignes16, Huguette Lioté18, Philippe Froguel15, Yannick Allanore19, Olivier Sand15, Claire Dromer20, René-Marc Flipo21, Annick Clément9, Christophe Béroud22, Jean Sibilia23, Baptiste Coustet1,24, Vincent Cottin25, Marie-Christophe Boissier26, Benoit Wallaert27, Thierry Schaeverbeke28, Florence Dasto le Moal29, Aline Frazier17, Christelle Ménard30, Martin Soubrier31, Nathalie Saidenberg29, Dominique Valeyre32, Serge Amselem9, Catherine Boileau3, Bruno Crestani2 and Philippe Dieudé1, 1Rhumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 2Pneumologie A, Hôpital Bichat - Claude Bernard, Paris, France, 3Génétique, Hôpital Bichat - Claude Bernard, Paris, France, 4Laboratory of Genome Dynamics in the Immune System, Institut Imagine, Paris, France, 5Pneumologie, CHRU de Lille, Lille, France, 6Université Paris-Diderot, Paris, France, 7Rheumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 8Pneumology, Centre Hospitalier Universitaire de Tours, Tours, France, 9Pneumologie pédiatrique, Hôpital Trousseau, Paris, France, 10Pneumologie B, Hôpital Bichat - Claude Bernard, Paris, France, 11Rhumatologie, Department of Rheumatology, Bordeaux University Hospital, Bordeaux, France, 12Pneumologie B, Hôpital Avicenne, Paris, France, 13CNRS UMR_7590, Paris, France, 14Laboratoire de cristallographie et RMN biologiques, UMR CNRS 8015, Paris, France, 15CNRS UMR_8199, Lille, France, 16UMR_S 910, Marseille, France, 17Rhumatologie, Hôpital Lariboisière, Paris, France, 18Pneumologie A, Hôpital Tenon, Paris, France, 19Rhumatologie A, Hôpital Cochin, Paris, France, 20Imagerie Thoracique et Cardiovasculaire, CHU Bordeaux, Bordeaux, France, 21Rhumatologie, CHU Lille, Lille, France, 22INSERM UMR_S 910, Marseille, France, 23Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, 24Rheumatology, Université Paris Descartes, Hopital Cochin, Paris, France, 25Louis Pradel Hospital, Claude Bernard University Lyon 1, Lyon, France, 26Li2P, University of Paris 13, Sorbonne Paris Cité, Bobigny, France, 27Pneumology, CHRU, Lille CEDEX, France, 28Rheumatology, CHU Bordeaux, Bordeaux, France, 29Rhumatologie, Hôpital Avicenne, Paris, France, 30Pneumologie Pédiatrique, Hôpital Trousseau, Paris, France, 31Rheumatology, Department of Rheumatology, CHU Gabriel Montpied, Clermont-Ferrand, France, 32Department of Pneumology, Avicenne Hospital (AP-HP), Bobigny, France

    Background/Purpose: Interstitial lung disease (ILD) is one of the leading causes of mortality for rheumatoid arthritis (RA) patients. Despite its high prevalence and mortality, little…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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