ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 172 • 2017 ACR/ARHP Annual Meeting

    Optimizing Precision Medicine By Using Genetics to Assign Diagnostic Prior Probabilities to Patients with Synovitis

    Rachel Knevel1,2,3,4, Chikashi Terao5,6,7, Jing Cui1,8, Kamil Slowikowski2,9,10, TWJ Huizinga3, Elizabeth Karlson11 and Soumya Raychaudhuri1,2,12,13, 1Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 2Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, 3Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 4Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Bosten, MA, 5Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 6Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan, 7Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan, 8Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 9Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, 10Division of Genetics, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, 11Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 12Department of Institute of Inflammation and Repair, University of Manchester, Manchester, United Kingdom, 13Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

    Background/Purpose: As the cost of genome-wide genotyping plummets, and biobanking efforts integrating medical records and genetics are rapidly expanding, many patients will have genotyping available…
  • Abstract Number: 2937 • 2017 ACR/ARHP Annual Meeting

    Genetic Variants in HLA-C and Class I Pathway Genes Influence Susceptibility to Kawasaki Disease

    Chisato Shimizu1, Jihoon Kim2, Hariklia Eleftherohorinou3, Victoria Wright3, Long Hoang4, Adriana Tremoulet5, Alessandra Franco6, Martin Hibberd4, Atsushi Takahashi7,8, Michiaki Kubo9, Kaoru Ito10, Toshihiro Tanaka10,11, Yoshihiro Onouchi10,12, Lachlan Coin3, Michael Levin3, Jane Burns13 and Hiroko Shike14, 1Pediatrics, University of California San Diego, School of Medicine, La Jolla, CA, 2Medicine, University California San Diego, School of Medicine, Division of Biomedical Informatics, La Jolla, CA, 3Imperial College London, London, United Kingdom, 4Genome Institute of Singapore, Singapore, Singapore, 5Pediatrics, University California San Diego, School of Medicine, La Jolla, CA, 6Pediatrics, University of California San Diego School of Medicine, La Jolla, CA, 7Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 8Department of Genomic Medicine, National Cerebral And Cardiovascular Center, Suita, Japan, 9RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 10Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 11Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo, Japan, 12Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan, 13Pediatrics, University California San DIego, School of Medicine, San Diego, CA, 14Penn State Hershey Medical Center, Hershey, PA

    Background/Purpose: Host genetics influence susceptibility to Kawasaki disease (KD), an acute pediatric vasculitis, and genome wide association studies (GWAS) have detected variants with modest effects…
  • 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: 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…
  • Abstract Number: 1573 • 2016 ACR/ARHP Annual Meeting

    Major Histocompatibility Antigen HLA-DQ6.1 (DQA1*0103/DQB1*0601) Increases Rheumatoid Arthritis Risk Independent of Shared Epitope Among Indians

    Able Lawrence1, Swayam Prakash2, Uddalak Bharadwaj3, Amita Aggarwal4, Ramnath Misra4 and Suraksha Agrawal2, 1Clinical Immunology, SGPGIMS, Lucknow, India, 2Medical Genetics, SGPGIMS, Lucknow, India, 3MD Anderson Cancer Center, Houston, TX, 4Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    Background/Purpose: The association of HLA-DRB1 shared epitope (SE) with rheumatoid arthritis (RA) does not completely explain MHC association. The HLA-DRB1 alleles are classified into high…
  • Abstract Number: 2032 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci

    Laura A McIntosh1, Miranda C Marion2, Marc Sudman1, Mary E Comeau2, Sampath Prahalad3, John F. Bohnsack4, Johannes P Haas5, Carol A Wallace6, Daniel J Lovell7, Thomas A Griffin8, Mara L Becker9, Peter A Nigrovic10,11, Marilynn Punaro12, Carlos D Rosé13, Carol A Wise14, Halima Moncrieffe15, Timothy D Howard16, Carl D Langefeld17, Susan D Thompson15,18 and Boston Children’s JIA Registry, JIA gene expression studies, NIAMS JIA genetic registry, TREAT study, Understanding TNF Therapy in JIA Project, 1Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, 3Pediatrics, Emory Children's Center, Atlanta, GA, 4Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT, 5German Centre for Rheumatology in Children and Young People, Garmisch-Partenkirchen, Germany, 6Pediatrics, Seattle Children's Hospital, Seattle, WA, 7Rheumatology, PRCSG Cincinnati Children's Hospital Medical Center, Cinncinnati, OH, 8Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC, 9Rheumatology, Children's Mercy Kansas City, Kansas City, MO, 10Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Boston, MA, 11Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 12Pediatric Rheumatology, Texas Scottish Rite Hospital for Children, Dallas, TX, 13Pediatrics, Division of Rheumatology, Nemours/A.I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, DE, 14Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, 15Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 16Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC, 17Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, 18Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease, affecting approximately 1 in 1,000 children. JIA is a complex genetic trait and…
  • Abstract Number: 2033 • 2016 ACR/ARHP Annual Meeting

    A Multi-Dimensional Genomic Map for Polyarticular Juvenile Idiopathic Arthritis

    James Jarvis1, Lisha Zhu2, Kaiyu Jiang3, Michael Buck2, Yanmin Chen3, Halima Moncrieffe4, Laura Brungs4, Tao Liu5 and Ting Wang6, 1Pediatrics, SUNY Buffalo School of Medicine, Buffalo, NY, 2Biochemistry, University at Buffalo, Buffalo, NY, 3Pediatrics, University at Buffalo, Buffalo, NY, 4Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5Department of Biochemistry, University at Buffalo, Buffalo, NY, 6Genetics, Washington University School of Medicine, St. Louis, MO

    Background/Purpose: Polyarticular juvenile idiopathic arthritis (JIA) is a complex trait characterized by gene-environment interactions. While we are beginning to identify multiple genomic regions associated with…
  • Abstract Number: 2035 • 2016 ACR/ARHP Annual Meeting

    Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis

    Yukinori Okada1, Akari Suzuki2, Katsunori Ikari3, Chikashi Terao4, Yuta Kochi2, Koichiro Ohmura5, Koichiro Higasa5, Masato Akiyama2, Kyoto Ashikawa2, Masahiro Kanai2, Jun Hirata1, Naomasa Suita1, Yik-Ying Teo6, Huji Xu7, Sang-Cheol Bae8, Yukihide Momozawa2, koichi Matsuda9, Shigeki Momohara10, Atsuo Taniguchi10, Ryo Yamada5, Tsuneyo Mimori5, Michiaki Kubo2, Matthew A. Brown11, Soumya Raychaudhuri12, Fumihiko Matsuda5, Hisashi Yamanaka10, Yoichiro Kamatani2 and Kazuhiko Yamamoto9, 1Osaka University, Osaka, Japan, 2Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 3Inst of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 4Departments of Genetics and Rheumatology, Brigham and Women'’s Hospital, Harvard Medical School, Boston, MA, 5Kyoto University Graduate School of Medicine, Kyoto, Japan, 6Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore, 7The Second Military Medical University, Shanghai, Japan, 8Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, The Republic of, 9The University of Tokyo, Tokyo, Japan, 10Tokyo Women's Medical University, Tokyo, Japan, 11The University of Queensland Diamantina Institute, Brisbane, Australia, 12Brigham and Women's Hospital, Boston, MA

    Background/Purpose: Despite the progress in human leukocyte antigen (HLA) causal variant mapping, independent localization of major histocompatibility complex (MHC) risk from classical HLA genes is…
  • Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Study of Gout in New Zealand Polynesian People

    Tanya Flynn1, Ruth Topless1, Murray Cadzow1, Amanda Phipps-Green1, Nick Burns1, Nicola Dalbeth2, Lisa K. Stamp3, Jennie Harre Hindmarsh4 and Tony R. Merriman5, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago, Christchurch, New Zealand, 4Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 5Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…
  • Abstract Number: 2276 • 2016 ACR/ARHP Annual Meeting

    Pleiotropic Effect of ABCG2 in Gout

    Tony R. Merriman1, Amanda Phipps-Green2, James Boocock2, Philip Riches3, Anne-Kathrin Tausche4, Timothy Radstake5, Matthijs Janssen6, Leo .A.B. Joosten7, Tim L Jansen8, Alexander So9, Jennie Harre Hindmarsh10, Lisa K. Stamp11, Nicola Dalbeth12 and Rebekah Wrigley2, 1Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, 2University of Otago, Dunedin, New Zealand, 3University of Edinburgh, Edinburgh, United Kingdom, 4Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, 5Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, 7Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 8Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands, 9Rheumatology Department, Lausanne University Hospital, Switzerland, Lausanne, Switzerland, 10Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 11University of Otago, Christchurch, New Zealand, 12University of Auckland, Auckland, New Zealand

    Background/Purpose: The ABCG2 Q141K (rs2231142) variant is an established cause of hyperuricaemia in Europeans. Although the effect size of ABCG2 rs2231142 on serum urate levels…
  • Abstract Number: 2277 • 2016 ACR/ARHP Annual Meeting

    Exon Sequencing Reveals a Significant Burden of Non-Synonymous Variants in Both SLC22A11 (OAT4) and SLC22A12 (URAT1) in European Hyperuricemic Individuals

    Tanya Flynn1, James Boocock1, Murray Cadzow1, Ruth Topless1, Amanda Phipps-Green1, Nicola Dalbeth2, Lisa K. Stamp3, David B. Mount4, Asim Mandal4, Hyon K. Choi5, Eli A. Stahl6 and Tony R. Merriman7, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago, Christchurch, New Zealand, 4Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 5Rheumatology, Allergy and Immunology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 6Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, 7Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: Common variants within the uric acid transporter genes SLC22A11 (OAT4) and SLC22A12 (URAT1) have been associated with hyperuricaemia and gout in multiple populations, but…
  • 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…
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