ACR Meeting Abstracts

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Abstracts tagged "genetics"

  • Abstract Number: 0149 • ACR Convergence 2022

    Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations

    Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY

    Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
  • Abstract Number: 1121 • ACR Convergence 2022

    Intricate Roles of Low Gene Copy Numbers for Complement C4, C4A Deficiency and HLA-DRB1*03 as Genetic Risk Factors for Myositis, Its Subgroups and Autoantibodies

    Danlei Zhou1, Emily H King1, Simon Rothwell2, Olga Kryštůfková3, Antonella Notarnicola4, Samantha Coss1, Rabheh Abdul Aziz5, Katherine E Miller1, Amanda Dang1, G. Richard Yu1, Joanne Drew6, Emeli Lundstrom4, Lauren Pachman7, Gulnara Mamyrova8, Rodolfo V Curiel8, Boel De Paepe9, Jan De Bleecker9, Antony Payton10, William Ollier11, Terrance P O'Hanlon12, Ira Targoff12, Willy Flegel12, Vidya Sivaraman6, Edward Oberle6, Shoghik Akoghlanian6, Kyla Driest6, Charles H Spencer13, Yee Ling Wu14, Haikady N Nagaraja15, Stacy P Ardoin6, Hector Chinoy16, Lisa G Rider12, Frederick Miller12, Ingrid Lundberg17, Leonid Padyukov18, Jiří Vencovský3, Janine A Lamb2 and Chack-Yung Yu1, 1Center for Microbial Pathogenesis, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, 2National Institute for Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, The University of Manchester, Manchester, United Kingdom, 3Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, 4Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, 5Division of Rheumatology, Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, 6Division of Rheumatology, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, 7Northwestern's Feinberg School of Medicine. Ann and Robert H. Lurie Children's Hospital of Chicago; Stanley Manne Children's Research Institute of Chicago, Lake Forest, IL, 8Division of Rheumatology, Department of Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, 9Department of Neurology, Ghent University Hospital, Ghent, Belgium, 10Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, 11Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom, 12Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health, Bethesda, MD, 13Division of Rheumatology, Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, MS, 14Department of Microbiology and Immunology, Loyola University Chicago, Maywood, IL, 15Division of Biostatistics, The Ohio State University, Columbus, OH, 16The University of Manchester, Sale, United Kingdom, 17Karolinska Universitetssjukhuset, Karolinska Institutet, Stockholm, Sweden, 18Karolinska Institutet, Stockholm, Sweden

    Background/Purpose: Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by autoantibodies plus infiltration of leukocytes into muscles and/or the skin, leading to…
  • Abstract Number: 1552 • ACR Convergence 2022

    Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis

    Hugh Alessi1, Yiming Luo1, Kaitlin Quinn2 and Peter Grayson3, 1NIH, Bethesda, MD, 2National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 3National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…
  • Abstract Number: 2230 • ACR Convergence 2022

    Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

    Yiming Luo1, Marcela Ferrada1, Keith Sikora2, Daniel Kastner3, Zuoming Deng4, Mengqi Zhang5, Hugh Alessi1, Virginia Kraus6, Andrew Allen6 and Peter Grayson7, 1National Institutes of Health, Bethesda, MD, 2National Institutes of Health Clinical Center, Bethesda, MD, 3National Human Genome Research Institute, Bethesda, MD, 4National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 5University of Pennsylvania, Philadelphia, PA, 6Duke University, Durham, NC, 7National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
  • Abstract Number: 0336 • ACR Convergence 2022

    Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record

    Yi-Ming Chen1, Tzu-Hung Hsiao1, Seng-Cho Chou2 and Chi-Wei Chung2, 1Taichung Veterans General Hospital, Taichung, Taiwan, 2Department of Information Management, National Taiwan University, Taipei, Taiwan

    Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…
  • Abstract Number: 1122 • ACR Convergence 2022

    Short Peripheral Blood Leukocyte Telomere Length in Rheumatoid Arthritis – Interstitial Lung Disease

    Pierre-Antoine Juge1, Tracy Doyle2, Seoyeon Lee3, Avram Walts4, Anthony Esposito5, Sergio Poli de Frias6, Ritu R. Gill7, Hiroto Hatabu8, Mizuki Nishino8, Michael Weinblatt9, Nancy A. Shadick6, Kristen Demoruelle10, Ivan O. Rosas11, Benjamin granger12, Kevin D Deane13, Bruno Crestani14, Paul Wolters15, Philippe Dieude16 and Joyce Lee13, 1Rheumatology department, Bichat Hospital, Paris, France, 2Brigham and Women's Hospital, Boston, MA, 3Department of Medicine, University of California, San Francisco, CA, 4Department of medicine, National Jewish Hospital, Denver, CO, 5Brigham and Women's Hospital, Department of Medicine, Boston, MA, 6Department of Medicine, Brigham and Women's Hospital, Boston, MA, 7Beth Israel Deaconess Medical Center, Radiology Department, Boston, MA, 8Department of Radiology, Brigham and Women's Hospital, Boston, MA, 9Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 10Department of Medicine, University of Colorado, Denver, CO, 11Baylor College of Medicine, Houston, TX, 12Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, PEPITES, F75013, Paris, France, Paris, France, 13University of Colorado Denver Anschutz Medical Campus, Denver, CO, 14Hopital Bichat, Paris University, Paris, France, 15UCSF, SF, 16Université Paris Cité, Paris, France

    Background/Purpose: Shortened telomere lengths (TL) have been associated with interstitial lung disease (ILD), in particular idiopathic pulmonary fibrosis (IPF). Given the phenotypic overlap between IPF…
  • Abstract Number: 1569 • ACR Convergence 2022

    Lung Involvement in VEXAS Syndrome

    Marta Casal Moura1, Misbah Baqir1, Yasmeen Tandon2, Matthew J. Samec3, Kaaren K. Reichard4, Abhishek Mangaonkar5, Ronald S. Go5, Kenneth J. Warrington6, Mrinal Patnaik7, Matthew J. Koster6 and Jay H. Ryu1, 1Mayo Clinic, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Rochester, USA, Rochester, 2Mayo Clinic, Radiology, Rochester, USA, Rochester, 3Mayo Clinic, Division of Rheumatology, Department of Medicine, Rochester, USA, Rochester, 4Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, USA, Rochester, 5Mayo Clinic, Division of Hematology, Department of Medicine, Rochester, USA, Rochester, 6Mayo Clinic, ROCHESTER, MN, 7Mayo Clinic, Division of Hematology, Department of Medicine, Rochester, United States of America, Rochester

    Background/Purpose: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently identified disorder caused by somatic mutations in the UBA1 gene of myeloid cells.…
  • Abstract Number: 2250 • ACR Convergence 2022

    Genetic and Environmental Risk Factors in Rheumatoid Arthritis-Associated Interstitial Lung Disease

    Austin Wheeler1, Yangyuna Yang1, Joshua Baker2, Jill Poole1, Dana Ascherman3, Gail Kerr4, Andreas Reimold5, Gary Kunkel6, Grant Cannon7, Katherine Wysham8, Namrata Singh9, Deana Lazaro10, Paul Monach11, S. Louis Bridges, Jr.12, Ted Mikuls13 and Bryant England1, 1University of Nebraska Medical Center, Omaha, NE, 2University of Pennsylvania, Philadelphia, PA, 3University of Pittsburgh, Pittsburgh, PA, 4Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, 5University of Texas Southwestern Medical Center, Dallas, TX, 6University of Utah, Salt Lake City, UT, 7Retired, Salt Lake City, UT, 8VA Puget Sound/University of Washington, Seattle, WA, 9University of Washington, Bellevue, WA, 10VA New York Harbor Healthcare system, Short Hills, NJ, 11VA Boston Healthcare System, Boston, MA, 12Hospital for Special Surgery, New York, NY, 13Division of Rheumatology, University of Nebraska Medical Center, Omaha, NE

    Background/Purpose: RA-associated interstitial lung disease (RA-ILD) is an extra-articular manifestation of RA causing substantial morbidity and mortality. Genetic risk variants, such as the MUC5B rs35705950…
  • Abstract Number: 0340 • ACR Convergence 2022

    Birth Order Is a Risk Factor for Systemic Lupus Erythematosus

    Nicole Shammas1, Priya Ramani2, Christopher Aston3, Ana Quintero-Del-Rio4, Judith James5, John Harley6, Isaac Harley7 and Hal Scofield5, 1University of Colorado School of Medicine, Aurora, CO, 2Tampa Rheumatology, Tampa, FL, 3University of Oklahoma Health Sciences Center, Oklahoma City, OK, 4OU Children's Hospital, Oklahoma City, OK, 5Oklahoma Medical Research Foundation, Oklahoma City, OK, 6US Department of Veterans Affairs Medical Center, Cincinnati, OH, 7University of Colorado Anschutz Medical Campus, Aurora, CO

    Background/Purpose: Birth order effects have been described in several immune and non-immune disease states. While some studies have found an increased risk of developing autoimmune…
  • Abstract Number: 1123 • ACR Convergence 2022

    Excess of Rare Deleterious Variants Within JAK-STAT Pathway – Related Genes in Patients with Rheumatoid Arthritis Associated Interstitial Lung Disease

    Pierre-Antoine Juge1, Steven Gazal2, Raphaël Borie3, Lidwine Wemeau4, Marie-Pierre Debray5, Sebastien Ottaviani6, Sylvain Marchand Adam7, Christophe Richez8, Hilario Nunes9, Pascal Richette10, Caroline Kannengiesser11, Jérome Avouac12, Jean Sibilia13, René-Marc Flipo14, Vincent Cottin15, Thierry Schaeverbeke16, Martin Soubrier17, Nathalie Saidenberg-Kermanac’h18, Dominique Valeyre19, Catherine Boileau11, Bruno Crestani20 and Philippe Dieude21, 1Rheumatology department, Bichat Hospital, Paris, France, 2University of Southern California, Los Angeles, CA, 3Pulmonology department, Bichat Hospital, Paris, France, 4Pulmonology department, Lille University hospital, Lille, France, 5Radiology department, Hôpital Bichat, Paris, France, 6Hopital Bichat-Claude Bernard, Paris, France, 7Pulmonology department, Tours University Hospital, Tours, France, 8Université de Bordeaux, Bordeaux, France, 9Pulmonology department, Hopital Avicenne, Bobigny, France, 10Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, 11Genetic Department, Bichat hospital, Paris, France, 12Rheumatology Department, Cochin hospital, Paris, France, 13University Hospital of Strasbourg, Strasbourg, France, 14Hôpital Roger Salengro, Lille, France, 15Coordinating Reference Center for Rare Pulmonary Diseases, Louis Pradel Hospital, University of Lyon, INRAE, Lyon, France, 16FHU ACRONIM, University Hospital of Bordeaux, University of Bordeaux, Bordeaux, France, 17Gabriel-Montpied Hospital, Clermont-Ferrand, France, 18Rheumatology Department, Avicenne Hospital, Bobigny, France, 19Pulmonology department, Avicenne Hospital, Bobigny, France, 20Hopital Bichat, Paris University, Paris, France, 21Université Paris Cité, Paris, France

    Background/Purpose: Interstitial lung disease (ILD) is a leading cause of morbidity and mortality in patients with RA. To date, there are no specific treatments available…
  • Abstract Number: 1572 • ACR Convergence 2022

    CD40, BLK and BANK1 in the Pathogenesis of Immunoglobulin-A Vasculitis

    Fernanda Genre1, Sara Remuzgo-Martinez1, Veronica Pulito-Cueto1, JOAO CARLOS BATISTA LIZ2, Diana Prieto-Peña1, Belén Atienza-Mateo1, Belén Sevilla-Pérez3, Javier Llorca4, Norberto Ortego5, María Teresa Leonardo6, Ana Peñalba6, F. Javier Narváez7, Luis Martín-Penagos8, Emilio Rodrigo8, Cristina Gomez-Fernandez9, Lara Belmar-Vega8, José A. Miranda-Filloy10, Luis Caminal-Montero11, Paz Collado12, Pedro Rodriguez-Jimenez13, Diego De Argila14, Patricia Quiroga-Colina15, Esther Vicente-Rabaneda16, Enrique Rubio17, Manuel León Luque17, Juan María Blanco-Madrigal18, Eva Galíndez-Agirregoikoa19, Javier Martín20, Santos Castañeda16, Ricardo Blanco21, Miguel Ángel González-Gay22 and Raquel Lopez Mejias23, 1Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL; and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, 2Ilerna, Madrid, Spain, 3Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, 4Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), Santander, Spain, 5Medicine Department, Universidad de Granada, Granada, Spain, 6Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, 7Rheumatology Department, Hospital Universitario de Bellvitge, Barcelona, Spain, 8Division of Nephrology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, 9Division of Dermatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, 10Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain, 11Division of Rheumatology, Hospital Universitario Central de Asturias, Oviedo, Spain, 12Division of Rheumatology, Hospital Universitario Severo Ochoa, Madrid, Spain, 13Dermatology Department, Hospital Universitario de La Princesa, Madrid, 14Dermatology Department, Hospital Universitario de La Princesa, Madrid, Spain, 15Division of Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, 16Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Spain, 17Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, 18Division of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain, 19Basurto University Hospital, Bilbao, Spain, 20Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain, 21Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain, 22Department of Medicine and Psychiatry, Universidad de Cantabria; Rheumatology Division, Hospital Universitario Marqués de Valdecilla; Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic diseases of the musculoskeletal system, IDIVAL, Santander, Spain. Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa, 23IDIVAL, Santander, Spain

    Background/Purpose: CD40 is a membrane glycoprotein expressed on B cells surface that activates antigen presenting cells [1]. BLK and BANK1 are components of B cells…
  • Abstract Number: 0517 • ACR Convergence 2021

    TPMT and NUDT15 Genotype and Azathioprine Myelotoxicity in Patients with Inflammatory Conditions: Results from Real-World Clinical Practice

    Alyson Dickson1, Laura Daniel2, Jacy Zanussi1, Wei-Qi Wei1, Dale Plummer1, William Dupont3, Ge Liu1, Prathima Anandi1, Tyler Reese4, Kelly Birdwell1, Vivian Kawai5, Adriana Hung1, Qiping Feng1, Nancy J. Cox1, C. Michael Stein1 and Cecilia Chung1, 1Vanderbilt University Medical Center, Nashville, TN, 2Vanderbilt University Medical Center, Pegram, TN, 3Vanderbilt University, Nashville, TN, 4Vanderbilt University Medical Center, Madison, TN, 5Vanderbilt Universty Medical Center, Nashville, TN

    Background/Purpose: Azathioprine is frequently used for the treatment of several inflammatory conditions. However, treatment is often limited by adverse events, in particular myelotoxicity. Both thiopurine-S-methyltransferase…
  • Abstract Number: 1011 • ACR Convergence 2021

    Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization

    Adriana Almeida de Jesus1, Bin Lin2, Eric Karlins3, Dana Kahle4, Andre Rastegar2, Jacob Mitchell2, Sofia Torreggiani2, Farzana Bhuyan2, Sara Alehashemi5, Kader Cetin Gedik6, Kat Uss2, Chyi-Chia Lee7, Hyesun Kuehn8, Sergio Rosenzweig8, Katherine Calvo8, Magdalena Walkiewicz9, Justin Lack10, Eric Hanson11, Amer Khojah12, Eveline Wu13, Christiaan Scott14, Timothy Ronan Leahy15, Emma MacDermott15, Orla Kileen15, Thaschawee Arkachaisri16, Zoran Gucev17, Kathryn Cook18, Vafa Mammadova19, Gulnara Nasrullayeva19, Scott Canna20, Douglas Kuhns21, Clifton Dalgard22, Timothy Moran23, Andrew Oler3 and Raphaela Goldbach-Mansky24, 1TADS/NIAID/NIH, Silver Spring, MD, 2TADS/NIAID/NIH, Bethesda, MD, 3BCBB/NIAID/NIH, Bethesda, MD, 4National Institutes of Health, Chevy Chase, MD, 5TADS/NIAID/NIH, Clarksville, MD, 6Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, 7NCI/NIH, Bethesda, MD, 8CC/DLM/NIH, Bethesda, MD, 9CSI/NIAID/NIH, Bethesda, MD, 10NCBR/NIAID/NIH, Bethesda, MD, 11Indiana University School of Medicine, Indianapolis, IN, 12Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 13UNC Chapel Hill, Chapel Hill, NC, 14Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, 15Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, 16KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, 17University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 18Akron Childrens Hospital, Copley, OH, 19Azerbaijan Medical University, Baku, Azerbaijan, 20Children's Hospital of Philadelphia, Philadelphia, PA, 21Frederick National Laboratory for Cancer Research/NIH, Frederick, MD, 22TAGC/USUHS, Bethesda, MD, 23University of North Carolina School of Medicine, Chapel Hill, NC, 24NIH/NIAID, Potomac, MD

    Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…
  • Abstract Number: 0518 • ACR Convergence 2021

    Predicted Expression of Genes Involved in the Thiopurine Metabolic Pathway Is Associated with Azathioprine Discontinuation Due to Bone Marrow Toxicity

    Laura Daniel1, Alyson Dickson2, Jacy Zanussi2, Tyne Miller-Fleming2, Peter Straub2, Wei-Qi Wei2, Dale Plummer2, William Dupont3, Ge Liu2, Prathima Anandi2, Tyler Reese2, Kelly Birdwell2, Vivian Kawai4, Adriana Hung2, Nancy J. Cox2, Qiping Feng2, C. Michael Stein2 and Cecilia Chung2, 1Vanderbilt University Medical Center, Pegram, TN, 2Vanderbilt University Medical Center, Nashville, TN, 3Vanderbilt University, Nashville, TN, 4Vanderbilt Universty Medical Center, Nashville, TN

    Background/Purpose: Azathioprine is a thiopurine used to treat inflammatory conditions; however, it is often discontinued due to dose-dependent bone marrow toxicity. The Pharmacogenomics Knowledgebase (PharmGKB)…
  • Abstract Number: 1019 • ACR Convergence 2021

    Cigarette Smoking Induces Post-translational Protein Modifications in Both in Vitro and in Vivo Models of Rheumatoid Arthritis-associated Interstitial Lung Disease

    Alyssa Gregory1, Corrine Kliment1, Geoffrey Thiele2, Michael Duryee2, Ted Mikuls2, Bryant England2, Jill Poole2 and Dana Ascherman3, 1University of Pittsburgh School of Medicine, Pittsburgh, PA, 2University of Nebraska Medical Center, Omaha, NE, 3University of Pittsburgh, Pittsburgh, PA

    Background/Purpose: Cigarette smoking has been epidemiologically linked to the development of ACPA+ rheumatoid arthritis (RA) and, by extension, RA-associated interstitial lung disease (RA-ILD). Providing strong…
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