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Abstracts tagged "genetics"

  • 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…
  • 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: 2818 • 2015 ACR/ARHP Annual Meeting

    Associations of IL23R, BMP6 and PTGS1 Polymorphisms with Radiographic Severity of Ankylosing Spondylitis

    Gulsen Ozen1, Rabia Deniz2, Fatih Eren3, Can Erzik3, Ali Ugur Unal1, Sibel Z. Aydin4, Nevsun Inanc1, Haner Direskeneli1 and Pamir Atagunduz1, 1Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, 2Marmara University Faculty of Medicine, Istanbul, Turkey, 3Department of Medical Biology, Marmara University Faculty of Medicine, Istanbul, Turkey, 4Department of Rheumatology, Koc University Faculty of Medicine, Istanbul, Turkey

    Background/Purpose: Ankylosing spondylitis (AS) is an inflammatory disease affecting spine which may lead to new bone formation and disability. However, the radiographic severity of AS…
  • Abstract Number: 2828 • 2015 ACR/ARHP Annual Meeting

    Profiling Immunogenic Bacteria within the Microbiota of ZAP-70 Mutant SKG Mice Associated with Spondyloarthritis and Ileitis Using IgA-SEQ

    Linda Rehaume1, Alicia Kang1, Olga Zbarskaya1, Jane Mullaney1, Matthew Kim1, Paraic O Cuiv1, Nicola Angel2, Philip Hugenholtz2, Mark Morrison1 and Ranjeny Thomas1, 1Translational Research Institute, The University of Queensland Diamantina Institute, Brisbane, Australia, 2Australian Centre for Ecogenomics, The University of Queensland, Brisbane, Australia

    Background/Purpose: IgA production is the main barrier mechanism of mucosal surfaces. High affinity IgA is generated through T cell-dependent mechanisms and preferentially binds to invasive…
  • Abstract Number: 2995 • 2015 ACR/ARHP Annual Meeting

    Genome Wide Analysis in Scleroderma Renal Crisis: Defining Genetic Risk in Patients with RNA Polymerase III Auto-Antibodies

    Maria C Fonseca1, Sandra Guerra1, Edward Stern1,2, Svetlana I. Nihtyanova1, David Abraham3, Aine Burns2, Mark Harber2 and Christopher P. Denton4, 1Rheumatology, UCL Division of Medicine, London, United Kingdom, 2Nephrology, Royal Free Hospital, London, United Kingdom, 3Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, 4Rheumatology and Connective Tissue Diseases, University College London, London, United Kingdom

    Background/Purpose: Scleroderma renal crisis (SRC) is a severe complication of systemic sclerosis (SSc). Most SSc cases demonstrate a disease-specific antinuclear antibody including anti-RNA polymerase III…
  • Abstract Number: 3001 • 2015 ACR/ARHP Annual Meeting

    Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis

    Angel CY Mak1, Paul LF Tang2, Clare Cleveland3,4, M Kari Connolly5, Tamiko Katsumoto3,4, Paul Wolters6, Pui-Yan Kwok2,5 and Lindsey A. Criswell7, 1Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 2Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 3Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, San Francisco, CA, 4Department of Medicine, University of California, San Francisco, San Francisco, CA, 5Department of Dermatology, University of California, San Francisco, San Francisco, CA, 6Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, 7Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, University of California, San Francisco, San Francisco, CA

    Background/Purpose: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies (GWAS) have identified a large number of gene regions…
  • Abstract Number: 3225 • 2015 ACR/ARHP Annual Meeting

    Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet’s Disease

    Mikhail Ognenovski1, Paul Renauer1, Ina Koetter2, Joerg C. Henes3, Bruno Casali4, Carlo Salvarani5, Haner Direskeneli6, Kenneth M. Kaufman7 and Amr H. Sawalha1, 1Division of Rheumatology, University of Michigan, Ann Arbor, MI, 2Internal Medicine IV Rheumatology, Asklepios Klinik Altona, Hamburg, Germany, 3Department of Internal Medicine II, Rheumatology Division, University Hospital Tuebingen, Tuebingen, Germany, 4Divisione di Biologia Molecolare, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy, 5Rheumatology, Arcispedale S.Maria Nuova, Reggio Emilia, Italy, 6Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, 7Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Behcet’s disease (BD) is a systemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other organ complications such as…
  • Abstract Number: 3227 • 2015 ACR/ARHP Annual Meeting

    Identification of Novel Protein-Coding Genetic Variants Associated with Takayasu Arteritis

    Paul Renauer1, Patrick Coit1, Peter A. Merkel2 and Amr H. Sawalha1, 1Division of Rheumatology, University of Michigan, Ann Arbor, MI, 2Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA

    Background/Purpose: Takayasu arteritis is a rare large vessel vasculitis of unclear etiology. Previous studies identified associations between Takayasu arteritis and genetic variants within HLA class…
  • Abstract Number: 93 • 2015 ACR/ARHP Annual Meeting

    An HLA-C Amino Acid Variant in Addition to HLA-B*27 Confers Risk for Ankylosing Spondylitis in the Korean Population

    Kwangwoo Kim1, So-Young Bang2, Seunghun Lee3, Hye-Soon Lee2, Seung-Cheol Shim4, Young Mo Kang5, Chang-Hee Suh6, Celi Sun7, Swapan Nath7, Sang-Cheol Bae2 and Tae-Hwan Kim2, 1Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 2Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, 3Department of Radiology, Hanyang University College of Medicine, Seoul Hospital, Seoul, South Korea, 4Division of Rheumatology, Daejeon Rheumatoid and Degenerative Arthritis Center, Chungnam National University, Daejeon, South Korea, 5Dept of Internal Medicine, Kyungpook National University School of Medicine, Daegu, South Korea, 6Allergy-Rheumatology, Ajou University School of Medicine, Suwon, South Korea, 7Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: Ankylosing spondylitis (AS) is a highly heritable rheumatic disease causing chronic inflammation of axial spine, joints and various organs. The presence of HLA-B*27 is…
  • Abstract Number: 3248 • 2015 ACR/ARHP Annual Meeting

    Which Factors Explain Multi-Site Pain Caused By Obesity: A 5-Year Follow-up Study in Older Adults?

    Feng Pan1, Laura Laslett2, Russell Thomson2, Tania Winzenberg3, Flavia Cicuttini4, Changhai Ding5 and Graeme Jones5, 1Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, 2Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, 3Menzies Institute for Medical Research, University of Tasmania, Hobart,7000, Australia, 4Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia, 5Musculoskeletal Unit, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia

    Background/Purpose: Joint pain is common in older adults; typically multiple joints are involved.  Obesity is an important risk factor in pathogenesis of multi-site joint pain…
  • Abstract Number: 99 • 2015 ACR/ARHP Annual Meeting

    Personalised Genetic Medicine: HLA-DRB1 Amino Acid Positions 11, 71 and 74 Predict Inflammation Level, Disease Activity and Disability in Rheumatoid Arthritis

    Stephanie Ling1, Sebastien Viatte2, Mark Lunt3, Alper van Sijl4, Lucía Silva Fernández4,5, Soumya Raychaudhuri2,6,7, Deborah P.M. Symmons4,8, Adam Young9,10, Alex J Macgregor11 and Anne Barton12, 1Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Mancheser Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 2Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 3Manchester Academic Health Sciences Centre, Arthritis Research UK Centre for Epidemiology, The University of Manchester, Manchester, United Kingdom, 4Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 5Rheumatology, Complexo Hospitalario Universitario de Ferrol, Ferrol, Spain, 6Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 7Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, 8Centre for Musculoskeletal Research, University of Manchester, Arthritis Research UK Centre for Epidemiology, Manchester, United Kingdom, 9Rheumatology, ERAS, St Albans City Hospital, St Albans, United Kingdom, 10School of Life & Medical Sciences, University of Hertfordshire, Hatfield, United Kingdom, 11School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, United Kingdom, 12Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom

    Background/Purpose: Amino acid (AA) positions 11, 71 and 74 inside HLA-DRB1 confer susceptibility to rheumatoid arthritis (RA). AAs from these positions form 16 haplotypes, hierarchically…
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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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