Abstracts tagged "genetics"

Abstract Number: 215 • 2018 ACR/ARHP Annual Meeting
A Decade Earlier- Onset of Symptoms of RA in the Indian (Asian) Cohort Compared to Dutch Cohort: Based on Meteor, a Global Database
Arvind Chopra¹, Manjit Saluja², Sytske Anne Bergstra³, Toktam Kainifard⁴, Anuradha Venugopalan⁵ and Tom W.J. Huizinga³, ¹Center for Rheumatic Diseases, Pune, India, ²Rheumatology, Research Co-ordinator, Pune, India, ³Department of Rheumatology, LUMC, Leiden, Netherlands, ⁴Rheumatology, Consultant research and Dietitian, Tehran, Iran (Islamic Republic of), ⁵Rheumatology, R & D, Lab, Center for Rheumatic Diseases, Pune, India
Background/Purpose: Reported symptom onset and diagnosis debut in rheumatoid arthritis (RA) patients may be influenced by environmental factors, genetics and gene-environmental interactions, but also by…
Abstract Number: 2787 • 2018 ACR/ARHP Annual Meeting
−21 HLA-Class I Dimorphism Differentiates Psoriatic Arthritis (PsA) from Psoriasis without Psoriatic Arthritis (PsC)
Vinod Chandran¹, Quan Li², Rohan Machhar², Fatima Abji¹, Justine Y. Ye¹, Rajan Nair³, Philip Stuart³, Katerina Oikonomopoulou², James T. Elder⁴, Dafna D Gladman² and Proton Rahman⁵, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ³University of Michigan, Ann Arbor, MI, ⁴University of Michigan Medical School, Ann Arbor, MI, ⁵Rheumatology, St Claires Mercy Hospital, St Johns, NF, Canada
Background/Purpose: The association between human leukocyte antigen (HLA) class I alleles and psoriatic disease indicates a potential role for the innate immune system in disease…
Abstract Number: 565 • 2018 ACR/ARHP Annual Meeting
Genetic Polymorphism in Dihydrofolate Reductase Impacts Methotrexate Polyglutamation in Adult Rheumatoid Arthritis
Thierry Dervieux¹, Marie Grosjean², Chuang Jiang^3,4, Kelley Brady¹, Kjeld Schmiegelow², Joel Kremer⁵ and Jun Yang⁴, ¹Exagen Diagnostics, Inc., Vista, CA, ²University Hospital Rigshospitalet, Copenhagen, Denmark, ³Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China, ⁴Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN, ⁵Albany Medical College and The Center for Rheumatology, Albany, NY
Background/Purpose: Methotrexate (MTX) is anti-folate activated to MTX polyglutamates (MTXPGs). MTX metabolism includes multiple enzyme-mediated reactions and genetic polymorphisms in these genes are linked to…
Abstract Number: 871 • 2018 ACR/ARHP Annual Meeting
Estimates of Diet Quality Explain Less Variability in Serum Urate Levels Than Genetic Factors
Tanya J. Major¹, Ruth Topless¹, Nicola Dalbeth² and Tony R. Merriman¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Hyperuricaemia (elevated serum urate) is a central risk factor for gout, an acute inflammatory form of arthritis. The balance between the hepatic production of…
Abstract Number: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Yue Wang¹, Guoshuai Cai², Diana M. Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen D. Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁹, John Clarke¹⁰, Francesco Boin¹¹, Paul Wolters¹², Lorinda Chung¹³ and Michael L. Whitfield¹⁴, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁷Dermatology, Stanford University School of Medicine, Stanford, CA, ⁸Gastroenterology, Stanford University School of Medicine, Palo Alto, CA, ⁹Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁰Gastroenterology, Stanford University School of Medicine, Stanford, CA, ¹¹Rheumatology, University California, San Francisco, San Francisco, CA, ¹²Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹³Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…
Abstract Number: 1278 • 2018 ACR/ARHP Annual Meeting
Evaluating a Causal Role of Mitochondrial Variation in the Development of Gout
Amara Shaukat¹, Anna Gosling¹, Matthew Bixley¹, Amanda Phipps-Green¹, Tanya J. Major¹, Murray Cadzow¹, Nicola Dalbeth², Lisa K. Stamp³, Elizabeth Matisoo-Smith¹, Jennie Harre Hindmarsh⁴, Leo .A.B. Joosten⁵, Tim Jansen⁶, Matthijs Janssen⁶, Anne-Kathrin Tausche⁷, Philip Riches⁸, Alexander So⁹, Mariano Andres¹⁰, Geraldine M. McCarthy¹¹, Fernando Perez-Ruiz¹², Michael Doherty¹³, Rosa Torres¹⁴, Tom W.J. Huizinga¹⁵, Rachel Knevel¹⁶, Fina Kurreeman¹⁷ and Tony R. Merriman¹, 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, ⁵Radboud University Medical Center, Nijmegen, Netherlands, ⁶VieCuri Medical Center, Venlo, Netherlands, ⁷Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, ⁸University of Edinburgh, Edinburgh, United Kingdom, ⁹University of Lausanne, Lausanne, Switzerland, ¹⁰Hospital General Universitario de Alicante-ISABIAL, Alicante, Spain, ¹¹Mater Misericordiae University Hospital, Dublin, Ireland, ¹²BioCruces Health Research Institute, Barakaldo, Spain, ¹³The University of Nottingham, Nottingham, United Kingdom, ¹⁴La Paz University Hospital, Madrid, Spain, ¹⁵Department of Rheumatology, LUMC, Leiden, Netherlands, ¹⁶Brigham and Women's Hospital, Boston, MA, ¹⁷Leiden University Medical Centre, Leiden, Netherlands
Background/Purpose: Mitochondria execute roles in diverse cellular pathways. As a danger signal, damaged mitochondria can induce inflammation in response to stress through NLRP3 inflammasome activation,…
Abstract Number: 1819 • 2018 ACR/ARHP Annual Meeting
MUC5B promoter Variant rs35705950 Is a Risk Factor for Rheumatoid Arthritis – Interstitial Lung Disease
Pierre-Antoine Juge¹, Joyce Sujin Lee², Esther Ebstein¹, Hiroshi Furukawa³, Evgenia Dobrinskikh⁴, Steven Gazal⁵, Caroline Kannengiesser⁵, Sébastien Ottaviani¹, Shomi Oka⁶, Shigeto Tohma⁷, Naoyuki Tsuchiya⁸, Jorge Rojas-Serrano⁹, Montserrat I. González-Pérez⁹, Mayra Mejía⁹, Ivette Buendía-Roldán⁹, Ramcés Falfan-Valencia¹⁰, Enrique Ambrocio-Ortiz¹⁰, Effrosyni Manali¹¹, Spyros A. Papiris¹¹, Theofanis Karageorgas¹², Dimitrios Boumpas¹², Katarina Antoniou¹³, Coline H.M. van Moorsel¹⁴, Joanne van der Vis¹⁴, Yaël A. de Man¹⁴, Jan C. Grutters¹⁴, Yaping Wang¹⁵, Raphaël Borie¹⁶, Lidwine Wemeau-Stervinou¹⁷, Benoit Wallaert¹⁸, René-Marc Flipo¹⁹, Hilario Nunes²⁰, Dominique Valeyre²⁰, Nathalie Saidenberg²¹, Marie-Christophe Boissier²², Sylvain Adam-Marchand²³, Aline Frazier²⁴, Pascal Richette²⁵, Yannick Allanore²⁶, Jean Sibilia²⁷, Claire Dromer²⁸, Christophe Richez²⁹, Thierry Schaeverbeke³⁰, Huguette Lioté³¹, Gabriel Thabut³², Nadia Nathan³³, Serge Amselem³⁴, Martin Soubrier³⁵, Vincent Cottin³⁶, Annick Clément³³, Kevin D. Deane³⁷, Avram D. Walts⁴, Tasha Fingerlin³⁸, Aryeh Fischer³⁹, Jay H. Ryu⁴⁰, Eric L. Matteson⁴¹, Timothy B. Niewold⁴², Deborah Assayag⁴³, Andrew Gross⁴⁴, Paul Wolters⁴⁵, Marvin I. Schwartz⁴⁶, V. Michael Holers⁴⁷, Joshua J. Solomon⁴⁸, Tracy Doyle⁴⁹, Ivan O. Rosas⁵⁰, Cornelis Blauwendraat⁵¹, Mike A. Nalls⁵², Marie-Pierre Debray¹⁶, Catherine Boileau⁵, Bruno Crestani¹⁶, David A. Schwartz⁴ and Philippe Dieude¹⁶, ¹Rhumatologie, Hôpital Bichat - Claude Bernard, Paris, France, ²SOM-MED, University of Colorado, Denver - Anschutz Medical Campus, Aurora, CO, ³University of Tsukuba, Graduate School of Comprehensive Human Sciences, Masters' Program in Medical Sciences, Tsukuba, Japan, ⁴Department of Medicine, University of Colorado School of Medicine, Aurora, CO, ⁵Génétique, Hôpital Bichat - Claude Bernard, Paris, France, ⁶Clinical Research Center for Allergy and Rheumatology, Sagamihara National Hopsital, Sagamihara, Japan, ⁷Clinical Research Center for Allergy and Rheumatology, Sagamihara National Hospital, Sagamihara, Japan, ⁸Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁹Interstitial Lung Disease & Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias, Mexico City, Mexico, ¹⁰HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias, Mexico City, Mexico, ¹¹2nd Pulmonary Medicine Department, University Hospital of Athens "Attikon", Athens, Greece, ¹²Rheumatology and Clinical Immunology Unit, 4th Department of Internal Medicine, University Hospital of Athens "Attikon", Athens, Greece, ¹³PS Department of Respiratory Medicine & Laboratory of Molecular & Cellular Pneumonology, University of Crete, Crete, Greece, ¹⁴St Antonius ILD center of excellence, St Antonius ziekenhuis, Nieuwegein, Netherlands, ¹⁵Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China, ¹⁶Université Paris-Diderot, Paris, France, ¹⁷Pneumologie, CHRU de Lille, Lille, France, ¹⁸Pneumology, CHRU, Lille CEDEX, France, ¹⁹Hôpital Roger Salengro, Lille, France, ²⁰Pulmonary diseases department, Avicenne Hospital (AP-HP), Bobigny, France, ²¹Rhumatologie, Hôpital Avicenne, Paris, France, ²²74 rue Marcel Cachin, INSERM, Bobigny, France, ²³Pneumology, Centre Hospitalier Universitaire de Tours, Tours, France, ²⁴Rhumatologie, Hôpital Lariboisière, Paris, France, ²⁵Rheumatology, Université Paris Diderot, Paris, France, ²⁶Rhumatologie A, Hôpital Cochin, Paris, France, ²⁷Université de Strasbourg, Strasbourg, France, ²⁸Imagerie Thoracique et Cardiovasculaire, CHU Bordeaux, Bordeaux, France, ²⁹Department of Rheumatology, Bordeaux University Hospital, Bordeaux, France, ³⁰Department of Rheumatology, Bordeaux University Hospital, BORDEAUX, France, ³¹Pneumologie A, Hôpital Tenon, Paris, France, ³²Pneumologie B, Hôpital Bichat - Claude Bernard, Paris, France, ³³Pneumologie pédiatrique, Hôpital Trousseau, Paris, France, ³⁴Service de Pneumologie Pédiatrique et Centre de référence des maladies respiratoires rares, Hôpital Trousseau, Paris, France, ³⁵Rheumatology, Department of Rheumatology, CHU Gabriel Montpied, Clermont-Ferrand, France, ³⁶Lyon Louis Pradel, Lyon, France, ³⁷Division of Rheumatology, University of Colorado Denver, Aurora, CO, ³⁸Department of Biomedical Research, National Jewish Health, Denver, CO, ³⁹Rheumatology / ILD Program, National Jewish Health, Denver, CO, ⁴⁰Division of Pulmonary and Critical Care Medicine, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁴¹Division of Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁴²Colton Center for Autoimmunity, New York University School of Medicine, New York, NM, ⁴³McGill University, Department of Medicine, Montreal, QC, Canada, ⁴⁴Department of Medicine, University of California, San Francisco, CA, ⁴⁵Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ⁴⁶University of Colorado School of Medicine, Department of Medicine, Aurora, CO, ⁴⁷Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ⁴⁸Division of Pulmonary and Critical Care Medicine, National Jewish Health, Denver, CO, ⁴⁹Brigham and Women's Hospital, Boston, MA, ⁵⁰BWH - Pulmonary, Brigham and Women's Hospital, Boston, MA, ⁵¹Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, ⁵²Data Tecnica International, Glen Echo, MD
Background/Purpose: Given phenotypic similarities between rheumatoid arthritis–associated interstitial lung disease (RA-ILD) and idiopathic pulmonary fibrosis (IPF), we hypothesized that the strongest risk factor for the…
Abstract Number: 1943 • 2018 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants Associate with Poor Renal Outcomes, Damage Accrual, and Death: A Prospective Ghanaian SLE Cohort
Ashira Blazer¹, Ida Dzifa Dey², Margaret Reynolds³, Festus Ankrah³, Nancyanne Schmidt⁴, Robert M. Clancy⁵ and Jill P. Buyon⁶, ¹Internal Medicine Division of Rheumatology, NYU School of Medicine, New York, NY, ²Department of Medicine, Rheumatology Unit, School of Medicine and Dentistry,University of Ghana, Accra, Ghana, ³Internal Medicine, The University of Ghana, Accra, Ghana, ⁴Internal Medicine, New York University School of Medicine, New York, NY, ⁵NYU School of Medicine, New York, NY, ⁶Rheumatology, NYU School of Medicine, New York, NY
Background/Purpose: Two Apolipoprotein L1 (APOL1) risk variants (RV), G1 and G2, are enriched in ancestrally African populations due to a conferred superior resistance to Trypanosoma…
Abstract Number: 1961 • 2018 ACR/ARHP Annual Meeting
Association of GTF2I Region Polymorphism with Systemic Lupus Erythematosus and Systemic Sclerosis, but Not with ANCA-Associated Vasculitis and Polymyositis/Dermatomyositis, in a Japanese Population
Nozomi Yokoyama^1,2, Aya Kawasaki^1,2, Takashi Matsushita³, Hiroshi Furukawa^1,2,4, Yuya Kondo⁵, Fumio Hirano^6,7, Ken-ei Sada⁸, Isao Matsumoto⁵, Makio Kusaoi⁹, Hirofumi Amano⁹, Shohei Nagaoka¹⁰, Keigo Setoguchi¹¹, Tatsuo Nagai¹², Kota Shimada^4,13, Shouji Sugii¹⁴, Atsushi Hashimoto¹⁵, Toshihiro Matsui¹⁶, Akira Okamoto¹⁷, Noriyuki Chiba¹⁸, Eiichi Suematsu¹⁹, Shigeru Ohno²⁰, Masao Katayama²¹, Kiyoshi Migita²², Hajime Kono²³, Minoru Hasegawa²⁴, Shigeto Kobayashi²⁵, Hidehiro Yamada²⁶, Kenji Nagasaka²⁷, Takahiko Sugihara²⁸, Kunihiro Yamagata²⁹, Shoichi Ozaki²⁶, Manabu Fujimoto³⁰, Naoto Tamura⁹, Yoshinari Takasaki⁹, Hiroshi Hashimoto³¹, Hirofumi Makino³², Yoshihiro Arimura³³, Masayoshi Harigai³⁴, Shinichi Sato³⁵, Takayuki Sumida⁵, Shigeto Tohma^36,37, Kazuhiko Takehara³ and Naoyuki Tsuchiya^1,2, ¹University of Tsukuba, Graduate School of Comprehensive Human Sciences, Masters' Program in Medical Sciences, Tsukuba, Japan, ²University of Tsukuba, Faculty of Medicine, Molecular and Genetic Epidemiology Laboratory, Tsukuba, Japan, ³Kanazawa University, Department of Dermatology, Kanazawa, Japan, ⁴National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Sagamihara, Japan, ⁵Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences, Department of Rheumatology, Tokyo, Japan, ⁷Tokyo Medical and Dental UniversityGraduate School of Medical and Dental Sciences, Department of Lifetime Clinical Immunology, Tokyo, Japan, ⁸Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences,Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama, Japan, ⁹Juntendo University, School of Medicine, Department of Internal Medicine and Rheumatology, Tokyo, Japan, ¹⁰Department of Rheumatology, Yokohama Minami Kyosai Hospital, Yokohama, Japan, ¹¹Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ¹²Kitasato University, Department of Rheumatology and Infectious Diseases, Sagamihara, Japan, ¹³Department of Rheumatology, Tokyo Metropolitan Tama Medical Center, Fuchu, Japan, ¹⁴Department of Rheumatology, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ¹⁵Rheumatology, National Hospital Organization Sagamihara Hospital, Sagamihara, Japan, ¹⁶National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Kanagawa, Japan, ¹⁷Department of Rheumatology, Himeji Medical Center, National Hospital Organization, Himeji, Japan, ¹⁸Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, ¹⁹Clinical Research Institute, Department of Internal Medicine and Rheumatology, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, ²⁰Center for Rheumatic Disease, Yokohama City University Medical Center, Yokohama, Japan, ²¹Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya, Japan, ²²Fukushima Medical University, School of Medicine, Fukushima, Japan, ²³Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, ²⁴University of Fukui, Department of Dermatology, Fukui, Japan, ²⁵Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, ²⁶St. Marianna University, School of Medicine, Department of Internal Medicine, Kawasaki, Japan, ²⁷Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, ²⁸Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, ²⁹University of Tsukuba, Faculty of Medicine, Department of Nephrology, Tsukuba, Japan, ³⁰University of Tsukuba, Faculty of Medicine, Department of Dermatology, Tsukuba, Japan, ³¹Juntendo University School of Medicine, Tokyo, Japan, ³²Okayama University Hospital, Okayama, Japan, ³³Kyorin University School of Medicine, First Department of Internal Medicine, Tokyo, Japan, ³⁴Tokyo Women's Medical University, Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo, Japan, ³⁵The University of Tokyo, Department of Dermatology, Tokyo, Japan, ³⁶National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ³⁷National Hospital Organization Tokyo Hospital, Sagamihara, Japan
Background/Purpose: Genome-wide association studies of systemic lupus erythematosus (SLE) in Chinese and Korean populations identified striking association with a single nucleotide polymorphism (SNP) rs73366469, located…
Abstract Number: 1962 • 2018 ACR/ARHP Annual Meeting
HLA Contributions to Risk and Protection for Anti-Centromere Autoantibody-Positive Scleroderma
Elaine F. Remmers¹, Theresa Alexander², Nadia D. Morgan³, Ami A. Shah⁴, Maureen D. Mayes⁵, Adebowale Adeyemo¹, Ayo Doumatey¹, Amy Bentley¹, Daniel Shriner⁶, Settara C Chandrasekharappa¹, Mary A. Carns⁷, Lorinda Chung⁸, Lindsey A. Criswell⁹, Chris T. Derk¹⁰, Robyn T. Domsic¹¹, Heather Gladue¹², Avram Goldberg¹³, Jessica K. Gordon¹⁴, Vivien Hsu¹⁵, Reem Jan¹⁶, Dinesh Khanna¹⁷, Thomas A. Medsger Jr.¹⁸, Paula S. Ramos¹⁹, Marcin A. Trojanowski²⁰, Lesley Ann Saketkoo²¹, Elena Schiopu²², Victoria Shanmugam²³, Benjamin D. Korman²⁴, Brynn Kron⁹, S. Louis Bridges Jr.²⁵, Kathleen D. Kolstad²⁶, Elana J. Bernstein²⁷, Suzanne Kafaja²⁸, Kathleen Maksimowicz-McKinnon²⁹, Rick Silver³⁰, Virginia D. Steen³¹, John Varga³², Charles Rotimi¹, Francesco Boin³³, Fredrick M. Wigley³⁴, Daniel L. Kastner³⁵ and Pravitt Gourh³⁶, ¹National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²National Institutes of Health, Bethesda, MD, ³Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Rheumatology, University of Texas McGovern Medical School, Houston, TX, ⁶National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, ⁷Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁸Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ⁹University of California San Francisco, San Francisco, CA, ¹⁰Rheumatology, University of Pennsylvania, Philadelphia, PA, ¹¹Medicine - Rheumatology, University of Pittsburgh, Pittsburgh, PA, ¹²Rheumatology, Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹³NYU Langone Medical Center, New York, NY, ¹⁴Rheumatology, Hospital for Special Surgery, New York, NY, ¹⁵Rheumatology, Robert Wood Johnson University Scleroderma Program, New Brunswick, NJ, ¹⁶Medicine, Rheumatology, University of Chicago, Chicago, IL, ¹⁷Division of Rheumatology, Department of Internal Medicine, University of Michigan Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁸University of Pittsburgh, Pittsburgh, PA, ¹⁹Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, ²⁰Boston University School of Medicine, Boston, MA, ²¹Rheumatology, Tulane University School of Medicine, New Orleans, LA, ²²University of Michigan, Ann Arbor, MI, ²³Rheumatology, The George Washington University, Washington, DC, ²⁴Division of Allergy/Immunology and Rheumatology and Center for Musculoskeletal Research, School of Medicine and Dentistry, University of Rochester Medical School, Rochester, New York, USA, Rochester, NY, ²⁵Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL, ²⁶Rheumatology, Stanford University Medical Center, Stanford, CA, ²⁷Rheumatology, Columbia University, New York, NY, ²⁸David Geffen School of Medicine, UCLA, Los Angeles, CA, ²⁹Rheumatology, Henry Ford Hospital, Detroit, MI, ³⁰Rheumatology, Medical University of SC, Charleston, SC, ³¹Rheumatology, MedStar Georgetown University Hospital, Washington, DC, ³²Northwestern University, Chicago, IL, ³³Rheumatology, University California, San Francisco, San Francisco, CA, ³⁴Rheum Div/Mason F Lord, Johns Hopkins University, Baltimore, MD, ³⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³⁶Rheumatology, NIAMS, National Institutes of Health, Bethesda, MD
Background/Purpose: Anti-nuclear autoantibodies are a hallmark of scleroderma with anti-centromere antibody (ACA) recognizing centromeric antigens. ACA-positive patients have longstanding Raynaud’s, limited cutaneous disease and increased…
Abstract Number: 1965 • 2018 ACR/ARHP Annual Meeting
Association of HLA Class II Alleles with Relapse and Interstitial Lung Disease in Myeloperoxidsae (MPO) -ANCA Positive Vasculitis in a Japanese Population
Aya Kawasaki¹, Ken-ei Sada², Fumio Hirano^3,4, Shigeto Kobayashi⁵, Hidehiro Yamada⁶, Hiroshi Furukawa^1,7, Kenji Nagasaka⁸, Takahiko Sugihara⁹, Kunihiro Yamagata¹⁰, Takayuki Sumida¹¹, Shigeto Tohma^12,13, Shoichi Ozaki⁶, Hiroshi Hashimoto¹⁴, Hirofumi Makino¹⁵, Yoshihiro Arimura¹⁶, Masayoshi Harigai¹⁷ and Naoyuki Tsuchiya¹, ¹University of Tsukuba, Faculty of Medicine, Molecular and Genetic Epidemiology Laboratory, Tsukuba, Japan, ²Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ³Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences, Department of Rheumatology, Tokyo, Japan, ⁴Tokyo Medical and Dental UniversityGraduate School of Medical and Dental Sciences, Department of Lifetime Clinical Immunology, Tokyo, Japan, ⁵Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, ⁶St. Marianna University, School of Medicine, Department of Internal Medicine, Kawasaki, Japan, ⁷National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Sagamihara, Japan, ⁸Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, ⁹Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, ¹⁰University of Tsukuba, Faculty of Medicine, Department of Nephrology, Tsukuba, Japan, ¹¹Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ¹²National Hospital Organization Tokyo Hospital, Sagamihara, Japan, ¹³National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ¹⁴Juntendo University School of Medicine, Tokyo, Japan, ¹⁵Okayama University Hospital, Okayama, Japan, ¹⁶Kyorin University School of Medicine, First Department of Internal Medicine, Tokyo, Japan, ¹⁷Tokyo Women's Medical University, Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo, Japan
Background/Purpose: The high prevalence of microscopic polyangiitis (MPA) and myeloperoxidase (MPO)-ANCA positive patients as well as frequent occurrence of interstitial lung disease (ILD) constitute unique…
Abstract Number: 1976 • 2018 ACR/ARHP Annual Meeting
Sequencing of the MHC Region Defines HLA-DQA1 As Driven Risk for Anti-Citrullinated Protein Antibodies (ACPA)-Positive Rheumatoid Arthritis in Han Population
Jianping Guo¹, Tao Zhang², Hongzhi Cao², Xiaowei Li², Mengru Liu¹, Yundong Zou¹ and Zhan-Guo Li¹, ¹Department of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China, ²Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen, China
Background/Purpose: The strong genetic contribution of the major histocompatibility complex (MHC) to rheumatoid arthritis (RA) susceptibility has been generally attributed to HLA-DRB1. However, due to…
Abstract Number: 1977 • 2018 ACR/ARHP Annual Meeting
Transcriptional Perturbation of RA-Risk Enhancer By CRISPR-DEADCAS9 Regulates LONG Range GENE Targets
Kate Duffus¹, Maria Imran², Gisela Orozco³, Helen Ray-Jones², Antony Adamson² and Stephen Eyre⁴, ¹Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ²University of Manchester, 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, ⁴NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
Background/Purpose: Findings from genome wide association studies in complex diseases indicate over 90% of genetic variants associated with risk of developing disease are found outside…
Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting
Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility
Hirotaka Matsuo¹, Toshihide Higashino¹, Tappei Takada², Hirofumi Nakaoka³, Yu Toyoda⁴, Blanka Stiburkova⁵, Hiroshi Nakashima⁶, Seiko Shimizu¹, Makoto Kawaguchi⁷, Akiyoshi Nakayama⁸, Yuka Aoki¹, Misaki Ishino¹, Yusuke Kawamura¹, Kenji Wakai⁹, Rieko Okada¹⁰, Tatsuo Hosoya¹¹, Kimiyoshi Ichida¹², Hiroshi Ooyama¹³, Hiroshi Suzuki², Ituro Inoue³, Tanya J. Major¹⁴, Tony R. Merriman¹⁴ and Nariyoshi Shinomiya¹, ¹Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, ²Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, ³Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan, ⁴Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine,, The University of Tokyo, Tokyo, Japan, ⁵Department of Pediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, First Faculty of Medicine, Prague, Czech Republic, ⁶Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan, ⁷National Defense Medical College, Tokorozawa, Japan, ⁸Dept Integrative Physiol, National Defense Medical College, Tokorozawa, Japan, ⁹Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹¹Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan, ¹²Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, ¹³Ryougoku East Gate Clinic, Tokyo, Japan, ¹⁴University of Otago, Dunedin, New Zealand
Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…
Abstract Number: 288 • 2017 ACR/ARHP Annual Meeting
The Rheumatoid Arthritis Susceptibility Gene C5orf30 Is an Immunomodulator in Macrophages
Emma Dorris¹, Karen Creevey¹, John Moylett¹, Simon Tazzyman², Munitta Muthana² and Anthony G. Wilson¹, ¹UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland, ²University of Sheffield Medical School, Sheffield, United Kingdom
Background/Purpose: rs26232 in the first intron of C5orf30 has been associated with risk of developing rheumatoid arthritis (RA) and severity of tissue damage. C5orf30 is…

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