Abstracts tagged "genetics"

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…
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: 0557 • ACR Convergence 2022
VEXAS Syndrome Is Characterized by Blood and Tissues Inflammasome Pathway Activation and Monocyte Dysregulation
Benjamin Terrier¹, Celine Posseme², Marie Temple³, Aurélien Corneau⁴, Francesco Carbone⁵, Eugénie Duroyon³, camille Gobeaux³, Estibaliz Lazaro⁶, Roderau Outh⁷, Guillaume Le Guenno⁸, Francois Lifermann⁹, Marie Berleur¹⁰, Thierry Weitten¹¹, Vivien Guillotin¹², Cédric Lenormand¹³, Hang-Korng Ea¹⁴, Mickael Ménager⁵, Darragh Duffy² and Olivier Kosmider³, ¹National Referral Center for Rare Systemic Autoimmune Diseases, Cochin Hospital, Paris, France, ²Institut Pasteur, Paris, France, ³Cochin Hospital, Paris, France, ⁴Pitié Salpêtrière Hospital, Paris, France, ⁵Institut Imagine, Paris, France, ⁶Bordeaux Hospital University, Bordeaux, France, ⁷CH, Perpignan, France, ⁸CHU, Clermont-Ferrand, France, ⁹Dax Hospital, Dax, France, ¹⁰CH, Versailles, France, ¹¹CHIGAS, Gap, France, ¹²CHU Bordeaux, Bordeaux, France, ¹³CHRU, Strasbourg, France, ¹⁴Lariboisière Hospital, Paris, France
Background/Purpose: Acquired mutations in the UBA1 gene, occurring in myeloid cells and resulting in expression of a catalytically impaired isoform of the enzyme E1, were…
Abstract Number: 1132 • ACR Convergence 2022
Interaction of LOC100507053, ADH1B, and ADH1C with Alcohol Consumption for Elevated Serum Urate Levels and Gout in People of European Ethnicity
Min Hui Chuah¹, Ruth Topless², Gregory Gamble¹, Nicholas Sumpter³, Lisa Stamp⁴, Tony Merriman² and Nicola Dalbeth¹, ¹University of Auckland, Auckland, New Zealand, ²University of Otago, Dunedin, New Zealand, ³University of Alabama at Birmingham, Birmingham, AL, ⁴University of Otago, Christchurch, New Zealand
Background/Purpose: Alcohol consumption is a risk factor for hyperuricaemia and gout. Multiple single nucleotide polymorphisms (SNPs) have been identified as associated with both habitual alcohol…

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.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].