ACR Meeting Abstracts

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Abstracts tagged "Genetic Biomarkers"

  • Abstract Number: 1638 • 2017 ACR/ARHP Annual Meeting

    High Genetic Risk Score Is Associated with Increased Organ Damage in SLE

    Sarah Reid1, Andrei Alexsson1, Martina Frodlund2, Johanna K Sandling1, Elisabet Svenungsson3, Andreas Jönsen4, Christine Bengtsson5, Iva Gunnarsson3, Anders A. Bengtsson4, Solbritt Rantapaa-Dahlqvist5, Maija-Leena Eloranta1, Ann-Christine Syvänen6, Christopher Sjöwall2, Lars Rönnblom1 and Dag Leonard1, 1Rheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden, Uppsala, Sweden, 2Department of Clinical and Experimental Medicine, Linköping University, Sweden, Linköping, Sweden, 3Rheumatology Unit, Department of Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden, 4Lund University, Department of Clinical Sciences, Rheumatology, Lund, Sweden, 5Dept of Public Health and Clinical Medicine/Rheumatology, Umeå University, Sweden, Umeå, Sweden, 6Uppsala University, Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala, Sweden

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, autoimmune disease with a complex genetic etiology. Over 80 risk genes for SLE have been identified and…
  • Abstract Number: 1971 • 2017 ACR/ARHP Annual Meeting

    Association between Genetic Variants and the Presence of Rheumatoid Arthritis-Related Autoimmunity and Progression to Classified Rheumatoid Arthritis in an at-Risk Population

    Rachael Sawaya1, Elizabeth A. Bemis1, Ryan W. Gan2, Jill M. Norris3, Jeffrey A. Sparks4, Elizabeth Karlson5, M. Kristen Demoruelle6, Kevin D. Deane7, V. Michael Holers8, Marie L. Feser7, Laurie Moss7, Jane H. Buckner9, Richard M. Keating10, Peter Gregersen11, Michael Weisman12, Ted R. Mikuls13 and James R. O'Dell14, 1Epidemiology, Colorado School of Public Health, Aurora, CO, 2Colorado School of Public Health, University of Colorado Denver, Aurora, CO, 3Department of Epidemiology, Colorado School of Public Health, Aurora, CO, 4Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 5Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 61775 Aurora Ct, 1775 Aurora Ct, Aurora, CO, 7Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 8Rheumatology Division, University of Colorado School of Medicine, Aurora, CO, 9Benaroya Research Institute at Virginia Mason, Seattle, WA, 10Division of Rheumatology, Scripps Clinic, La Jolla, CA, 11The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, 12Cedars-Sinai Medical Center Division of Rheumatology, Los Angeles, CA, 13Internal Medicine, Division of Rheumatology, University of Nebraska Medical Center, Omaha, NE, 14Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE

    Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of RA-related autoantibodies prior to the development of clinical disease. While HLA-shared epitope…
  • Abstract Number: 2731 • 2017 ACR/ARHP Annual Meeting

    The Utility of Unbiased Metagenomic Next Generation Sequencing in the Management of Patients with CNS Vasculitis

    Hiromichi Tamaki1, Michael R Wilson2, Leonard H. Calabrese3, Joseph L. DeRisi4 and Rula A Hajj-Ali5, 1Department of Rheumatic and Immunologic Diseases, Cleveland Clinic Foundation, Cleveland, OH, 2Department of Neurology, UCSF, San Francisco, CA, 3Rheumatic & Immunologic Disease, Cleveland Clinic Foundation, Cleveland, OH, 4Biochemistry and Biophysics, UCSF, San Francisco, CA, 5Rheumatology, Cleveland Clinic Foundation, Cleveland, OH

    Background/Purpose: In the clinical approach to CNS vasculitis, exclusion of infection is of major concern as some microbes can cause vasculitis, and infections can complicate…
  • Abstract Number: 2827 • 2017 ACR/ARHP Annual Meeting

    A Novel Statistical Method to Resolve Cellular Heterogeneity in Disease Tissues: Integrating Transcriptomic Data in Accelerating Medicines Partnership (AMP) – RA Network Phase 1 Data

    Fan Zhang1, Kamil Slowikowski2, Chamith Fonseka1, Kevin Wei3, Maria Gutierrez-Arcelus4, James Lederer5, Nir Hacohen6, Vivian P. Bykerk7, Michael Holers8, Peter Gregersen9, Mandy J. McGeachy10, Larry W. Moreland11, Andrew Filer12, Costantino Pitzalis13, Yvonne C. Lee14, Jennifer H. Anolik15, Michael Brenner4 and Soumya Raychaudhuri16, 1Divisions of Genetics and Rheumatology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 2Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical Schoo, Boston, MA, 3Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 4Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 5Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Harvard Medical School, Boston, MA, 72-005, Mt Sinai Hospital, Toronto, ON, Canada, 8Medicine, Division of Rheumatology, University of Colorado Denver, Aurora, CO, 9The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, 10Medicine, University of Pittsburgh, Pittsburgh, PA, 11Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, 12Institute of Inflammation and Ageing (IIA), University of Birmingham, Birmingham, United Kingdom, 13Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, 14Rheumatology Immunology & Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 15Medicine- Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY, 16Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

    Background/Purpose: Detecting distinct cellular subsets in disease tissues is key to understanding the pathogenesis of immune diseases, for example in synovial tissues in rheumatoid arthritis…
  • Abstract Number: 2828 • 2017 ACR/ARHP Annual Meeting

    A Graph-Theoretic-Approach Applied to Modular-Repertoire-Analysis Identifies Shared Gradual Whole Blood Interferon Signatures in Systemic Lupus Erythematosus and Primary Sjögren’s Syndrome Patients and Reveals New Interferon-Related Modules in Disease Progression

    Ilya Korsunski1, Noémie Jourde-Chiche2, Peter Gregersen3, Damien Chaussabel4, Laurent Chiche5 and Naomi I. Maria6, 1Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, 2Nephrology, AP-HM, Department of Nephrology, CHU Conception, Marseille, France, 3Robert S. Boas Center for Genomics and Human Genetics, Feinstein Institute for Med Res, Manhasset, NY, 4Translational Medicine, Sidra Medical and Research Center, Doha, Qatar, 5Internal medicine, Hopital europeen, Marseille, France, 6Center for Autoimmune and Musculoskeletal Diseases, Feinstein Institute for Medical Research, Manhasset, NY

    Background/Purpose: There is significant clinical and molecular heterogeneity among patients suffering from systemic autoimmune diseases, such as systemic lupus erythematosus (SLE) and primary Sjögren’s Syndrome…
  • Abstract Number: 2905 • 2017 ACR/ARHP Annual Meeting

    TET2 Mutation Is Significantly Associated with the Development of Autoimmune Disorder in Patients with Myelodysplastic Syndrome

    Yoon-Jeong Oh1, Dong-Yeop Shin2, Sang Mee Hwang3, Eun Young Lee4, Yeong Wook Song5, Dong-Soon Lee3 and Jin Kyun Park6, 1Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea, Republic of (South), 2Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea, Republic of (South), 3Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea, Republic of (South), 4Seoul National University College of Medicine, Seoul, Korea, Republic of (South), 5Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, Koer, Seoul, Korea, Republic of (South), 6Division of Rheumatology, Seoul National University Hospital, Seoul, Korea, Republic of (South)

    Background/Purpose: Myelodysplastic syndrome (MDS) is characterized by ineffective hematopoiesis in bone marrow and peripheral cytopenia. Various genetic mutations contribute to MDS. Common mutations affect genes…
  • Abstract Number: 34 • 2017 Pediatric Rheumatology Symposium

    The SLCO1B1 *14 Allele is Associated with Poor Response to Subcutaneous Methotrexate in Patients with Juvenile Idiopathic Arthritis

    Halima Moncrieffe1, Laura B Ramsey2, Marc Sudman3, Beth Gottlieb4, Carl D Langefeld5, Daniel Lovell6, Susan D Thompson7 and JIA Gene Expression Study Consortium, 1Center for Autoimmune Genomics and Etiology and Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Division of Research in Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Pediatric Rheumatology, Cohen Children's Medical Center of New York, New Hyde Park, NY, 5Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC, 6Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 7Center for Autoimmune Disease Genomics and Etiology and Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Variants in the SLCO1B1 gene, encoding a hepatic methotrexate (MTX) transporter, affect clearance of high-dose MTX in leukemia patients.  We aimed to assess the…
  • Abstract Number: 2415 • 2016 ACR/ARHP Annual Meeting

    Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (secHLH)

    Chiara Passarelli1, Manuela Pardeo2, Elisa Pisaneschi1, Antonio Novelli1, Fabrizio De Benedetti2 and Claudia Bracaglia2, 1Ospedale Pediatrico Bambino Gesù IRCCS, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Rome, Italy, 2Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy

    Background/Purpose: Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease, particularly of systemic JIA (sJIA). It is currently classified among the secondary forms…
  • Abstract Number: 2726 • 2016 ACR/ARHP Annual Meeting

    Prevalence of HLA-B27 in the Normal Population and Patients with Axial Spondyloarthritis in Saudi Arabia

    Fatima alduraibi1, Mohammed Omair2,3, Moheeb Al Awwami4, Sultana Abdulaziz5, Waleed Husain6, Maha El Dessougi7, Mahmoud Aljurf8, Hind Alhumaidan9, Hana Al Khabbaz10, Ibrahim Alahmadi11 and Salman Al Saleh12, 1Department of Internal Medicine, Section of Rheumatology ,Department of Internal Medicine,King Faisal Specialsed Hospital, Saudi Arabia, Riyadh, Saudi Arabia, 2Rheumatology, King Khalid Hospital, Riyadh, ON, Saudi Arabia, 3Division of Rheumatology, Department of Medicine, King Saud University, Riyadh, Saudi Arabia, 4Histocompatibility and Immunogenetics Laboratory, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, 5Dept of Medicine/Unit of Rheumatology, King Fahad Hospital, Jeddah, Saudi Arabia, 6Hera Hospital , Division of Rheumatology, Department of Medicine, Makkah, Saudi Arabia, 7Security Forces Hospital Division of Rheumatology, Department of Medicine, Riyadh, Saudi Arabia, 8Department of Adult Hematology/Oncology and Stem Cell Transplantation, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, 9Blood Bank/Stem Cell/Cord Blood , Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, 10Riyadh Colleges of Dentistry and Pharmacy, Riyadh, Saudi Arabia, 11Organ Transplant Center, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, 12King Faisal Specialsed Hospital, Riyadh, Saudi Arabia

    Background/Purpose: The prevalence of HLA-B27 varies between different ethnicities. Its presence is associated with susceptibility to axial spondyloarthritis (axSpA). The aim of this study is…
  • Abstract Number: 2873 • 2016 ACR/ARHP Annual Meeting

    B-Cell activating Factor Genetic Variants in Systemic Lupus Erythematosus and Lupus Related Atherosclerosis

    Evangelos Theodorou1, Adrianos Nezos2, Pinelopi Kostantopoulou3, Maria Tektonidou4, Michael Koutsilieris5 and Clio P. Mavragani5, 1Rheumatology, 251 Hellenic (Greek) Air Force Hospital, Athens, Greece, 2Physiology, Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece, 3Rheumatology Department, General Hospital of Athens "G.Gennimatas", Αthens, Greece, 4Laikon Hospital, Athens University Medical School, Athens, Greece, 5Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with an increased atherosclerotic risk compared to healthy population, partially explained by traditional cardiovascular…
  • Abstract Number: 3124 • 2016 ACR/ARHP Annual Meeting

    Huntingtin Interacting Protein 1 (Hip1) Is a New Arthritis Severity Gene

    Teresina Laragione1, Percio Gulko1 and Max Brenner2, 1Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY, 2Feinstein Institute for Medical Research, Manhasset, NY

    Background/Purpose:  Cia25/Pia42 is an arthritis severity and joint damage quantitative trait locus on rat chromosome 12 previously identified in an intercross between MHC identical but…
  • 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: 60 • 2016 ACR/ARHP Annual Meeting

    A Single Nucleotide Polymorphism of IL6-Receptor Is Associated with Response to Tocilizumab in Rheumatoid Arthritis: Results from Toci and ROC Studies

    Cécile Luxembourger1, Adeline Ruyssen-Witrand2, Yannick Degboé3, Alain G. Cantagrel1, Arnaud CONSTANTIN4, Philippe Gaudin5, Christian Jorgensen6, Jean-Francis Maillefert7, Hubert Marotte Sr.8, Delphine Nigon9, Daniel Wendling10, Jacques-Eric Gottenberg11 and Yves-marie Pers12, 1Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, 2Rheumatology Center, Purpan University Hospital, Toulouse, France, 3Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, 4Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, 5Rheumatology, Grenoble University Hospital, France, Grenoble, France, 6Inserm u844, Unite ImmunoRhumatologie Therapeutique, Montpellier, France, 7Rheumatology, University Hospital, Dijon, France, 8CHU de St Etienne, Service de rhumatologie, St Etienne, France, 9CHU Purpan, Toulouse, France, 10Rheumatology, Besançon university hospital, Besançon, France, 11Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, 12coordination RIC SUD, Montpellier, France

    Background/Purpose: Biological agents (boDMARDs) have modified the therapeutic management of patients with rheumatoid arthritis (RA). However, boDMARDs can induce sustained remission in only 30% of…
  • Abstract Number: 67 • 2016 ACR/ARHP Annual Meeting

    Polymorphisms of ERAP1, IL23R and TRAILR1 Are Associated with MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort

    Cécile Luxembourger1, Yannick Degboé2, Alain Cantagrel3, Delphine Nigon4, Pascal Claudepierre5, Arnaud CONSTANTIN6 and Adeline Ruyssen-Witrand7, 1Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, 2Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, 3Rheumatology, INSERM CNRS UMR 1043, Paul Sabatier University Toulouse, Purpan Teaching Hospital, Toulouse, France, 4CHU Purpan, Toulouse, France, 5Hôpital Henri Mondor, Créteil, France, 6Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, 7Rheumatology Center, Purpan University Hospital, Toulouse, France

    Polymorphisms of ERAP1, IL23R and TRAILR1 are associated With MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort Background/Purpose: Spondyloarthritis (SpA) is a…
  • 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…
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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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