Abstracts tagged "genetics"

Abstract Number: 2060 • ACR Convergence 2022
Increased Risk of Adverse Renal Outcomes in Patients of African Ancestry with Systemic Lupus Erythematosus (SLE) – Role of APOL1
Gul Karakoc, Ge Liu, Jorge Gamboa, Cecilia Chung, Jonathan Mosley, Michael Stein and Vivian Kawai, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: SLE disproportionately affects individuals of African (AA) compared to European ancestry (EA). In addition to a higher incidence, the disease is more severe in…
Abstract Number: 0137 • ACR Convergence 2022
Polyarticular Arthritis and Osteolysis Caused by Mutations in the ASAH1 Gene: Farber Disease Clinical Presentations in the First-ever Natural History Study
Alexander Solyom¹, Kathleen Crosby², Nils Confer² and Jaime Lopez Valdez³, ¹Aceragen, Basel, Switzerland, ²Aceragen, Durham, NC, ³Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico
Background/Purpose: Farber disease is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis or seronegative rheumatoid arthritis which leads to a delay in diagnosis for many patients.…
Abstract Number: 1120 • ACR Convergence 2022
Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues
Marcin Radziszewski¹, Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, R. Hal Scofield³, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Umesh Deshmukh¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
Abstract Number: 1538 • ACR Convergence 2022
Decreased Prevalence of Autoimmune Connective Tissue Diseases in Type 1 and Type 2 Diabetes
Aya abugharbyeh, Sadik Khuder and bashar Kahaleh, University of Toledo, Toledo, OH
Background/Purpose: Evidence suggest that autoimmune diseases tend to coexist at a higher rate than expected, reflecting a common pathogenetic pathway. However, data sets have shown…
Abstract Number: 2177 • ACR Convergence 2022
Familial Clustering of Systemic Sclerosis, Autoimmunity, and Cancer History
Mariana Bombini¹, Nailú Sinicato¹, Jacqueline Paredes², Theresa Wampler Muskardin², Tiago Nardi Amaral¹, Ana Paula Del Rio¹, Joao Marques Neto³, Timothy Niewold² and Simone Appenzeller⁴, ¹State University of Campinas, Campinas, São Paulo, Brazil, ²Hospital for Special Surgery, New York, NY, ³State University of Campinas, São Paulo, Brazil, ⁴Unicamp, Campinas, São Paulo, Brazil
Background/Purpose: Systemic sclerosis (SSc) is a complex disease characterized by chronic inflammation, fibrosis, and vasculopathy. Genetic factors contribute to pathogenesis, but because it is a…
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…

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