ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 1935 • 2019 ACR/ARP Annual Meeting

    Multi-Organ System Meta-Analytic Approach to Investigating Sarcoidosis

    Jihad Aljabban1, Saad Syed 2, Sharjeel Syed 3, Nikhil Adapa 1, Laith Hasan 4, Zahir Allarakhia 5, Dexter Hadley 6, Mohamad Aljabban 7 and Wael Jarjour 8, 1Ohio State University College of Medicine, Columbus, 2Stanford School of Medicine, Stanford, 3Stanford School of Medicine, Stanford, CA, 4Tulane School of Medicine, New Orleans, 5Ohio State University College of Medicine, Columbus, OH, 6Institute for Computational Health Sciences, San Francisco, 7Genesys Health Systems, Grand Blanc, MI, 8Ohio State College of Medicine, Columbus, OH

    Background/Purpose: Sarcoidosis (SD) is a granulomatous inflammatory disease with a heterogenous presentation and no definite etiology. SD usually begins in the lungs, skin, or lymph…
  • Abstract Number: 1947 • 2019 ACR/ARP Annual Meeting

    Integrating Genetic Risk Scores and Pre-Diagnostic Metabolomics to Infer Dysregulated Mechanisms in Rheumatoid Arthritis in Women

    Su H. Chu1, Jing Cui 2, Jeffrey Sparks 2, Bing Lu 2, Clary Clish 3, Jessica Lasky-Su 1, Elizabeth Karlson 2 and Karen Costenbader 2, 1Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 2Brigham and Women's Hospital, Boston, MA, 3Broad Institute of MIT and Harvard, Boston, MA

    Background/Purpose: Rheumatoid arthritis genetic risk scores (RA-GRS) improve RA risk prediction, but the added predictive value over lifestyle risk factors is modest. Several human leukocyte…
  • Abstract Number: 1954 • 2019 ACR/ARP Annual Meeting

    Association of Functional (GA)n Microsatellite Polymorphism in the FLI1 Gene with Susceptibility to Human Systemic Sclerosis

    Aya Kawasaki1, Keita Yamashita 2, Takashi Matsushita 3, Hiroshi Furukawa 4, Yuya Kondo 5, Naoko Okiyama 6, Shouhei Nagaoka 7, Kota Shimada 8, Shoji Sugii 9, Masao Katayama 10, Shunsei Hirohata 11, Akira Okamoto 12, Noriyuki Chiba 13, Eiichi Suematsu 14, Keigo Setoguchi 15, Kiyoshi Migita 16, Takayuki Sumida 5, Shigeto Tohma 17, Minoru Hasegawa 18, Yasuhito Hamaguchi 3, Shinichi Sato 19, Yasushi Kawaguchi 20, Kazuhiko Takehara 3 and Naoyuki Tsuchiya 1, 1Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 2Doctoral Program in Biomedical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan, 3Department of Dermatology, Kanazawa University, Kanazawa, Japan, 4Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan, 5Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 6Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 7Yokohama Minami Kyousai Hospital, Yokohama, Kanagawa, Japan, 8Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, 9Department of Rheumatic Diseases, Tokyo Metropoitan Tama Medica Center, Fuchu, Japan, 10National Hospital Organization Nagoya Medical Center, Nagoya, Japan, 11Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Tatsuno, Japan, 12National Hospital Organization HImeji Medical Center, Himeji, Hyogo, Japan, 13National Hospital Organization Morioka Medical Center, Morioka, Iwate, Japan, 14National Hospital Organization Kyushu Medical Center, Fukuoka, Japan, 15Tokyo Metropolitan Cancer and Infectious Dease Center Komagome Hospital, Tokyo, Tokyo, Japan, 16Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan, 17National Hospital Organization Tokyo National Hospital, Kiyose, Japan, 18Department of Dermatology, Fukui University, Fukui, 19University of Tokyo Graduate School of Medicine, Department of Dermatology, Tokyo, Japan, 20Department of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan

    Background/Purpose: Susceptibility genes which can account for the characteristic features of systemic sclerosis (SSc) such as fibrosis, vasculopathy and autoimmunity remain to be determined. A…
  • Abstract Number: 1959 • 2019 ACR/ARP Annual Meeting

    Pleiotropy of Systemic Lupus Erythematosus (SLE) Risk Alleles: Association with Increased Risk for Type 1 Diabetes (T1D) Complications Through a PTPN22 Polymorphism

    Vivian Kawai1, Mingjian Shi 1, Qiping Feng 2, Cecilia Chung 1, Ge Liu 2, Nancy Cox 2, Dan Roden 2, C. Michael Stein 1 and Jonathan Mosley 2, 1Vanderbilt University Medical Center, Nashville, TN, 2Vanderbilt University Medical Center, Nashville

    Background/Purpose: Patients with SLE have increased risk of cardiovascular events and a higher prevalence of metabolic conditions compared to the general population. Inflammation is a…
  • Abstract Number: 1960 • 2019 ACR/ARP Annual Meeting

    Pleiotropy of Genetic Predisposition to Rheumatoid Arthritis Increases the Risk for Autoimmune Disease

    Vivian Kawai1, Mingjian Shi 1, Qiping Feng 2, Cecilia Chung 1, Ge Liu 2, Nancy Cox 2, Dan Roden 2, C. Michael Stein 1 and Jonathan Mosley 2, 1Vanderbilt University Medical Center, Nashville, TN, 2Vanderbilt University Medical Center, Nashville

    Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is associated with increased risk of cardiovascular disease, cardiometabolic disorders, and autoimmune disease. Thus, we…
  • Abstract Number: 2021 • 2019 ACR/ARP Annual Meeting

    Higher Genetic Risk Load in Patients with More Diverse Manifestations in a Korean Systemic Lupus Erythematosus Cohort

    So-Young Bang1, Eunji Ha 2, Hyuk-Hee Kwon 3, Hyun-Seung Yoo 4, Juyeon Kang 1, Ji-Soong Kim 1, Bora Nam 1, Jung-Min Shin 1, Yeon-Kyung Lee 1, Tae-Han Lee 5, Hye-Soon Lee 6, Kwangwoo Kim 2 and Sang-Cheol Bae 1, 1Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea, 2Kyung Hee University, Seoul, Republic of Korea, 3Hanyang University Hospital, Guri, 4Hanyang University Hospital, Guri, Republic of Korea, 5Hanyang University, Seoul, 6Department of Internal Medicine, Hanyang University Guri Hospital,Hanyang University School of Medicine, Guri, Korea, Guri, Republic of Korea

    Background/Purpose: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with diverse heterogeneous phenotypes. Although many studies of SLE presented estimates of high heritability, impact…
  • Abstract Number: 2740 • 2019 ACR/ARP Annual Meeting

    Takayasu Arteritis Associated Risk Locus in IL6 Represses the Anti-inflammatory Gene GPNMB Through Chromatin Looping and Recruiting MEF2-HDAC Complex

    Xiufang Kong 1 and Amr Sawalha2, 1University of Michigan & Fudan University, Ann Arbor, MI, 2University of Pittsburgh & University of Michigan, Pittsburgh, PA

    Background/Purpose: Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within IL6 (rs2069837 A/G). The…
  • Abstract Number: 2836 • 2019 ACR/ARP Annual Meeting

    Do Serum Urate-associated Genetic Variants Differentially Contribute to Gout Risk According to Body Mass Index? Analysis of the UK Biobank

    Vicky Tai1, Ravi Narang 1, Greg Gamble 1, Lisa Stamp 2, Tony Merriman 3 and Nicola Dalbeth 1, 1University of Auckland, Auckland, New Zealand, 2University of Otago, Christchurch, Christchurch, Canterbury, New Zealand, 3University of Otago, Birmingham, AL

    Background/Purpose: Both serum urate-associated genetic variants and body mass index (BMI) are associated with gout risk. The aim of this study was to systematically examine…
  • Abstract Number: 2837 • 2019 ACR/ARP Annual Meeting

    Asymptomatic Monosodium Urate Crystal Deposition Associates with Increased Expression of Pro-Inflammatory Genes

    Gabriela Sandoval-Plata1, Kevin Morgan 2, Tamar Guetta-Baranes 2, Ana Valdes 3, Michael Doherty 4 and Abhishek Abhishek 5, 1Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham / Academic Rheumatolog, School of Medicine, University of Nottingham, Nottingham, England, United Kingdom, 2Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham, Nottingham, England, United Kingdom, 3Academic Rheumatology, School of Medicine, University of Nottingham / Nottingham NIHR BRC, Nottingham UK, Nottingham, England, United Kingdom, 4Academic Rheumatology, Division of Rheumatology,School of Medicine, University of Nottingham, Nottingham, UKArthritis Research UK Pain Centre, Nottingham, UKNational Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham, UK, Nottingham, England, United Kingdom, 5Academic Rheumatology, School of Medicine, University of Nottingham,Nottingham,UK National Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham,UK, Nottingham, England, United Kingdom

    Background/Purpose: Persistent hyperuricaemia is a prerequisite for gout. However, only 10% of people with hyperuricaemia develop symptomatic gout, whereas 25-35% have asymptomatic monosodium urate (MSU)…
  • 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 Jiang3,4, 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…
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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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