Abstracts tagged "genetics"

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…
Abstract Number: 1627 • ACR Convergence 2022
BAFF-var Is a New Predisposing Factor for Primary Sjögren’s Syndrome (pSS) and Impacts Disease Activity
Marie Dulin¹, Maxime Beydon², Bineta Ly³, Veronique Le Guern⁴, Raphaèle Seror⁵, Xavier Mariette⁶ and Gaetane Nocturne⁷, ¹Kremlin Bicêtre Hospital - APHP, Paris, France, ²Université Paris Cité, Paris, France, ³INSERM UMR1184, Le Kremlin Bicêtre, France, ⁴Hôpital Cochin, Paris, France, ⁵University Hospital Paris-Saclay, Le Kremlin Bicêtre, France, ⁶Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ⁷APHP, Le Kremlin Bicêtre, France
Background/Purpose: Chronic B cell activation plays a key role in pSS pathogeny. BAFF (B-cell activating factor) is largely involved in this process and positive results…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
Abstract Number: 1134 • ACR Convergence 2022
Genome-wide Association Study Identifies Novel Loci for Leukopenia Among TPMT and NUDT15 Normal Metabolizers Taking Azathioprine
Jacy Zanussi, Puran Nepal, Alyson Dickson, Laura Daniel, Peter Straub, Tyne Miller-Fleming, Wei-Qi Wei, Adriana Hung, Nancy Cox, Vivian Kawai, Jonathan Mosley, Michael Stein, QiPing Feng, Ge Liu, Ran Tao and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Azathioprine is a thiopurine drug used for the treatment of several inflammatory and autoimmune conditions. However, its use is limited due to side effects,…
Abstract Number: 1633 • ACR Convergence 2022
Genetic Risk, Adherence to a Healthy Lifestyle, and Incident Gout in US Women and Men
Kehuan Lin¹, Natalie McCormick¹, Leo Lu², amit johi³, Chio Yokose⁴ and Hyon Choi⁵, ¹Massachusetts General Hospital, Boston, MA, ²Arthritis Research Canada, Vancouver, BC, Canada, ³Regeneron, Boston, MA, ⁴Massachusetts General Hospital, Waltham, MA, ⁵MASSACHUSETTS GENERAL HOSPITAL, Lexington, MA
Background/Purpose: Lifestyle and genetic factors have been independently related to incident gout risk. However, it remains unknown whether the genetic risk of gout is affected…
Abstract Number: 0567 • ACR Convergence 2022
Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis
Adriana Almeida de Jesus¹, Guibin Chen², Dan Yang², Tomas Brdicka³, Natasha Ruth⁴, David Bennin⁵, Dita Cebecauerova⁶, Hana Malcova⁷, Helen Freeman⁸, Neil Martin⁹, Karel Svojgr⁶, Murray Passo⁴, Farzana Bhuyan¹⁰, Sara Alehashemi¹¹, Andre Rastegar¹², Kat Uss¹², Lela Kardova¹², Iris Duric³, Ebun Omoyinmi¹³, Petra Peldova⁶, Chyi-Chia Richard Lee¹⁴, David Kleiner¹⁴, Colleen Hadigan¹⁵, Stephen Hewitt¹⁴, Stefania Pittaluga¹⁴, Carmelo Carmona-Rivera¹⁶, Katherine R. Calvo¹⁵, Nirali Shah¹⁴, Miroslava Balascakova⁶, Danielle Fink¹⁷, Radana Kotalova⁶, Zuzana Parackova⁶, Lucie Peterkova⁶, Daniela Kuzilkova⁶, Vit Campr⁶, Lucie Sramkova⁶, Stephen Brooks¹⁶, Eric Meffre¹⁸, Rebecca Harper², Hyesun Kuehn¹⁵, Mariana Kaplan¹⁶, Paul Brogan¹⁹, Sergio Rosenzweig¹⁵, Zuoming Deng¹⁶, Anna Huttenlocher⁵, Susan Moir¹², Douglas Kuhns¹⁷, Manfred Boehm², Karolina Skvarova Kramarzova²⁰ and Raphaela Goldbach-Mansky²¹, ¹NIAID, NIH, Silver Spring, MD, ²National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic, ⁴Medical University of South Carolina, Charleston, SC, ⁵Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI, ⁶Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, Czech Republic, ⁷Second Faculty of Medicine, Charles University/University Hospital Motol, Praha, Czech Republic, ⁸Raigmore Hospital, Inverness, Scotland, United Kingdom, ⁹Royal Hospital for Children, Glasgow, Scotland, United Kingdom, ¹⁰National Institutes of Health, Bethesda, MD, ¹¹NIH/NIAID/TADS, Clarksville, MD, ¹²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹³Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵Clinical Center, National Institutes of Health, Bethesda, MD, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ¹⁸Yale University, New Haven, CT, ¹⁹UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²⁰Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, ²¹NIH/NIAID, Potomac, MD
Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…
Abstract Number: 1137 • ACR Convergence 2022
MHC Class I Polypeptide-Related Sequence a Variant Predicts Real-World Response to Anti-TNF Therapy
Kristin Wipfler¹, Joshua Baker² and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Nebraska Medical Center, Omaha, NE
Background/Purpose: MHC class I polypeptide-related sequence A (MICA) is a protein involved in the activation of NK and T cells. Variants within the MICA gene…
Abstract Number: 1645 • ACR Convergence 2022
Evaluating the Use of Genetic Risk Scores as Part of an Integrated Risk Tool for Predicting Coronary Artery Disease in Patients with Rheumatoid Arthritis
Mehreen Soomro¹, Michael Stadler¹, Sebastien Viatte¹, Alex Macgregor², Suzanne Verstappen¹, Anne Barton¹ and John Bowes¹, ¹The University of Manchester, Manchester, United Kingdom, ²The University of East Anglia, Norwich, United Kingdom
Background/Purpose: Patients with rheumatoid arthritis (RA) have a higher prevalence of coronary artery disease (CAD) than the general population, which contributes to early mortality. However,…
Abstract Number: 0594 • ACR Convergence 2022
Identification of Peptidylglycine Alpha-Amidating Monooxygenase as a Regulator of Tissue Damage Mediated by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Dorris¹, Christopher Buckley² and Anthony Wilson¹, ¹University College Dublin, Dublin, Ireland, ²University of Oxford, Oxford, United Kingdom
Background/Purpose: The minor C allele variant of rs26232 SNP, located within the first intron of the Macrophage Immunometabolism regulator (MACIR) gene, is associated with both…
Abstract Number: 1139 • ACR Convergence 2022
Molecular Pathways Identified from Risk Alleles Identify Mechanistic Differences in Systemic Lupus Erythematosus Patients of East Asian and European Ancestry
Katherine Owen¹, Kristy Bell², Andrew Price³, Prathyusha Bachali⁴, Hannah Ainsworth⁵, Miranda Marion⁶, Timothy Howard⁵, Carl Langefeld⁷, Nan Shen⁸, Jinoos Yazdany⁹, Maria Dall'Era¹⁰, Amrie Grammer¹¹ and Peter Lipsky³, ¹RILITE, Crozet, VA, ²AMPEL BioSolutions LLC, Charlottesville, VA, ³AMPEL BioSolutions, Charlottesville, VA, ⁴AMPEL BioSolutions, Redmond, WA, ⁵Wake Forest School of Medicine, Winston-Salem, NC, ⁶Wake Forest University, Winston-Salem, NC, ⁷Wake Forest School of Medicine, Winston Salem, NC, ⁸Shanghai Jiang Tong University School of Medicine, Shanghai, China, ⁹UCSF, San Francisco, CA, ¹⁰University of California, Division of Rheumatology, San Francisco, CA, ¹¹AMPEL LLC, Charlottesville, VA
Background/Purpose: SLE is a multi-organ autoimmune disorder with a prominent genetic component. Individuals of Asian-Ancestry (AsA) disproportionately experience more severe SLE compared to individuals of…
Abstract Number: 1657 • ACR Convergence 2022
Extreme Phenotype Approach Identifies Rare Variants in Systemic Sclerosis and Dermatomyositis Patients with Severe Calcinosis
Srijana Davuluri¹, Urvashi Kaundal², Christian Lood³, Puneet Kapoor¹, Yumeko Kawano⁴, Stefania Dell'Orso⁵, Zuoming Deng⁶, Zsuzsanna McMahan⁷, Ami Shah⁷, Laura Hummers⁸, Daniel Kastner⁹, Fredrick Wigley¹⁰, David Fiorentino¹¹, Pravitt Gourh¹² and Lorinda Chung¹¹, ¹Stanford University School of Medicine, Palo Alto, CA, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Division of Rheumatology, University of Washington, Seattle, WA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵NIH, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Johns Hopkins Rheumatology, Baltimore, MD, ⁸Johns Hopkins Univerisity, Baltimore, MD, ⁹National Human Genome Research Institute, Bethesda, MD, ¹⁰Johns Hopkins University, Baltimore, MD, ¹¹Stanford University, Stanford, CA, ¹²National Institutes of Health, Bethesda, MD
Background/Purpose: Calcinosis, deposition of insoluble calcium salts in skin and subcutaneous tissues, affects up to 40% of systemic sclerosis (SSc) patients, and up to 20%…
Abstract Number: 0601 • ACR Convergence 2022
Occupational Inhaled Agents Constitute Major Risk Factors for Rheumatoid Arthritis, Particularly in the Context of Genetic Predisposition and Smoking
Bowen Tang¹, Qianwen Liu², Anna Ilar³, Pernilla Wiebert², Sara Hägg¹, Leonid Padyukov², Lars Klareskog², Lars Alfredsson² and Xia Jiang², ¹Karolinska Institutet, Solna, Sweden, ²Karolinska Institutet, Stockholm, Sweden, ³The National Board of Health and Welfare, Stockholm, Sweden
Background/Purpose: The lung is recognized as a primary site in the induction of rheumatoid arthritis (RA). Our study aims to assess the effect of common…

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