Abstracts tagged "Gene Expression"

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: 1990 • ACR Convergence 2022
Artificial Intelligence Applied to Transcriptomics Profiling of Synovial Tissue Biopsies Accurately Predicts Rheumatoid Arthritis Patients Who Will Respond or Be Refractory to Standard Biological Treatments
Giorgio CASABURI, Todd Holscher and Ming-Chou Lee, Exagen, Inc., Vista, CA
Background/Purpose: In recent years, biological therapies have revolutionized treatments of Rheumatoid Arthritis (RA). However, about 40% of RA patients do not respond to given biologics…
Abstract Number: 0024 • ACR Convergence 2022
Exposure to Pollutants with Endocrine Disrupting Properties Is Associated with Early Cartilage Defects and Chondrocyte Inflammatory and Oxidative Activation
Sabryne Berkani¹, Inés Kouki², Sylvie Babajko³, Audrey Pigenet⁴, padmaja Natarajan⁵, Philip Ordoukhanian⁶, Xavier Houard⁴, Martin Lotz⁷, Barbara Demeneix⁸, Jean-Baptiste Fini⁸, Francis Berenbaum⁹, Jérémie SELLAM¹⁰ and Alice Courties¹¹, ¹Sorbonne Université, INSERM UMR 938, Centre de Recherche Saint-Antoine, Department of Rheumatology, Assistance Publique , Hôpital Saint-Antoine, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France, Paris, ²Sorbonne Université, INSERM UMR 938, Centre de Recherche Saint-Antoine, Department of Rheumatology, Assistance Publique , Hôpital Saint-Antoine, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France, Paris, France, ³Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France, Paris, ⁴Sorbonne Université, INSERM UMR 938, Centre de Recherche Saint-Antoine, Hôpital Saint-Antoine, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France, Paris, ⁵Center for Computational Biology & Bioinformatics and Genomics Core, Scripps Research, La Jolla, California, USA, La Jolla, ⁶Center for Computational Biology & Bioinformatics and Genomics Core, Scripps Research, La Jolla, CA, ⁷Scripps Research, La Jolla, ⁸UMR 7221, Phyma, CNRS-Muséum National d'Histoire Naturelle, Sorbonne Université, 75005 Paris, France., Paris, ⁹Sorbonne University - Saint-Antoine hospital, Paris, France, ¹⁰Sorbonne Universite, AP-HP, Saint-Antoine hospital, Paris, France, ¹¹Service de Rhumatologie, AP-HP Hopital Saint-Antoine, Sorbonne Universite, INSERM, Centre de Recherche Saint-Antoine, Paris, France, Paris, France
Background/Purpose: Humans are exposed to pollutants with endocrine disruptors (ED) properties from their in utero life. Among them, a mix of 15 pollutants (perfluorinated compounds,…
Abstract Number: 0603 • ACR Convergence 2022
Survivin-dependent Regulation of Bivalent Chromatin and Its Relevance for Adaptive Immunity
Venkataragavan Chandrasekaran¹, Nina Oparina², Karin Andersson², Malin Erlandsson², Maria-Jose Garcia-Bonete³, Maja Jensen⁴, Gergely Katona⁵ and Maria Bokarewa⁶, ¹Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden, ²Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Goteborg, Sweden, ³Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden, ⁴Department of Chemistry and Molecular Biology, Gothenburg, Sweden, ⁵Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden, ⁶Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden
Background/Purpose: Bivalent chromatin (BvCR) is characterized by simultaneous binding of active and repressive modifications to the histone H3 proteins. Influencing expression of the genes, BvCR…
Abstract Number: 1142 • ACR Convergence 2022
The Lupus Risk Allele Associated Xq28 Haplotype Identifies the Molecular Endotype of a Cohort of European SLE Patients with Enhanced IRAK1 Signaling
Rheyanna Clemens¹, Tyson Dawson¹, Katherine Owen², Amrie Grammer³ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL LLC, Charlottesville, VA
Background/Purpose: Previous genetic association studies identified a 9 gene region of Xq28 containing IRAK1 as a risk locus for SLE. IRAK1 plays key roles downstream…
Abstract Number: 2044 • ACR Convergence 2022
Abnormalities of Extracellular Matrix Modeling Gene Expression in Salivary Gland Epithelial Cells of Patients with Sjögren’s Syndrome
Elodie Riviere¹, Juliette Pascaud¹, Franck Letourneur², Gaetane Nocturne³ and Xavier Mariette⁴, ¹Université Paris-Saclay, INSERM U1184, Le Kremlin Bicêtre, France, ²Genomic, Hôpital Cochin, Université Paris Descartes, Sorbonne Paris Cité, Paris, France, ³APHP, Le Kremlin Bicêtre, France, ⁴Paris-Saclay University, Rueil Malmaison, Ile-de-France, France
Background/Purpose: Salivary gland epithelial cells (SGECs) are not only the target of autoimmunity in primary Sjögren's syndrome (pSS). SGECs may interact with lymphocytes and therefore…
Abstract Number: 0039 • ACR Convergence 2022
Type I and Type II Interferon and NF-κB-Response Gene Scores and Serum Cytokine Levels in Patients with Various Systemic Autoinflammatory Diseases
Sophia Park¹, Andre Rastegar², Farzana Bhuyan³, Sara Alehashemi⁴, Danielle Fink², Douglas Kuhns², Adriana Almeida de Jesus⁵ and Raphaela Goldbach-Mansky⁶, ¹NIAID, Bethesda, MD, ²NIH, Bethesda, MD, ³National Institutes of Health, Bethesda, MD, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵NIAID, NIH, Silver Spring, MD, ⁶NIH/NIAID, Potomac, MD
Background/Purpose: Patients with systemic autoinflammatory diseases (SAIDs) present with chronic and acute elevations of proinflammatory serum cytokine and chemokine levels during exacerbations of disease flares.…
Abstract Number: 0606 • ACR Convergence 2022
Mechanism of Joint-Specific Homeobox D10 Regulation in Rheumatoid Arthritis Fibroblast-Like Synoviocytes
Hyeonjeong Lee¹, Camilla Machado², Deepa Hammaker³, Wei Wang⁴, David Boyle⁵ and Gary S. Firestein⁶, ¹University of California San Diego, San Diego, CA, ²UCSD, San Diego, CA, ³UC San Diego, San Diego, CA, CA, ⁴University of California San Diego, San Diego, ⁵UCSD, La Jolla, CA, ⁶University of California, San Diego, San Diego, CA
Background/Purpose: Rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLS) have joint-specific epigenetic and transcriptome profiles. This is particularly notable for homeobox (HOX) genes, which contribute to joint…
Abstract Number: 1147 • ACR Convergence 2022
Transcriptomic Changes Induced by Tocilizumab in Ex-Vivo PBMCs from Patients with GCA in Remission. Predictors of Response
Marco A Alba¹, Roser Alba¹, Georgina Espigol Frigolé², Javier Marco Hernández², Sergio Prieto², Marc Corbera-Bellalta³ and Maria C Cid³, ¹IDIBAPS, Barcelona, Spain, ²Hospital Clínic de Barcelona, Barcelona, Spain, ³Hospital Clinic, University of Barcelona, Barcelona, Spain
Background/Purpose: Glucocorticoids (GCs) are only effective therapy able to induce disease remission, but most patients relapse when GC are tapered and suffer from GC-related toxicity.…
Abstract Number: 2144 • ACR Convergence 2022
JAK Inhibition Re-balances Gene Expression Profile of Circulating Immune Cells in Patients with Psoriatic Arthritis
Maria Gabriella Raimondo¹, Charles Gwellem Anchang¹, Hannah Labinsky², Mina Saad Aziz Saad¹, Simon Rauber¹, Mario Vogg¹, Eleni Kampylafka¹, Johannes Knitza¹, Alina Soare¹, Georg Schett³ and Andreas Ramming¹, ¹Department of Internal Medicine 3 – Rheumatology and Immunology, Friedrich-Alexander-University Erlangen-Nürnberg and Universitätsklinikum Erlangen, 91054 Erlangen, Germany; Deutsches Zentrum Immuntherapie, Friedrich-Alexander-UniversityErlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, ²Department of Internal Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander-University Erlangen-Nürnberg and Universitätsklinikum Erlangen, 91054 Erlangen, Germany; Deutsches Zentrum Immuntherapie, Friedrich-Alexander-University Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, ³Universitätsklinikum Erlangen, Erlangen, Germany
Background/Purpose: Janus Kinase (JAK)/Signal Transducers and Activator of Transcription (STAT) is not only involved in IL23- signaling, but rather implemented into a broad range of…
Abstract Number: 0046 • ACR Convergence 2022
Baricitinib Ameliorates Residual Neuropathic Pain in Collagen Antibody-Induced Arthritis Mice by Suppressing Inflammation of the Dorsal Root Ganglion
Kenta Makabe¹, Yasunori Omata¹, Hiroyuki Okada¹, Ryota Chijimatsu², Asuka Terashima¹, Fumiko Yano¹, Sakae Tanaka¹ and Taku Saito¹, ¹Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, ²Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Okayama, Japan
Background/Purpose: In clinical trials for the treatment of rheumatoid arthritis, baricitinib was shown to significantly improve pain scores compared with anti-TNF inhibitors. This result suggests…
Abstract Number: 0607 • ACR Convergence 2022
Cadherin 6 Regulates Rheumatoid Arthritis Fibroblasts-Like Synoviocyte Aggressiveness
Camilla Machado¹, Hyeonjeong Lee², Sho Sendo³, Narayanan Perumal⁴, Wei Wang⁵, David Boyle⁵ and Gary S. Firestein⁶, ¹UCSD, San Diego, CA, ²University of California San Diego, San Diego, CA, ³University California, San Diego (UCSD), La Jolla, CA, ⁴Eli Lilly Company, San Diego, ⁵University of California San Diego, San Diego, ⁶University of California, San Diego, San Diego, CA
Background/Purpose: Rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLS) display an aggressive behavior. Previous studies have implicated cadherins in FLS function in this phenotype, which are type…
Abstract Number: 1150 • ACR Convergence 2022
Spatial Transcriptomics Stratifies Health and Psoriatic Disease Severity by Emergent Cellular Ecosystems
Rochelle Castillo¹, Ikjot Sidhu¹, Igor Dolgalev¹, Ipsita Subudhi¹, Di Yan¹, Piotr Konieczny¹, Brandon Hsieh¹, Tinyi Chu², Rebecca Haberman¹, Shanmugapriya Selvaraj¹, Tomoe Shiomi¹, Rhina Medina¹, Parvathy Vasudevanpillai Girija¹, Adriana Heguy¹, Cynthia Loomis¹, Luis Chiriboga¹, Shane Meehan¹, Christopher Ritchlin³, Maria de la Luz Garcia-Hernandez⁴, John Carucci¹, Andrea Neimann¹, Shruti Naik¹ and Jose Scher⁵, ¹NYU Langone Health, New York, NY, ²Memorial Sloan Kettering Cancer Center, New York, NY, ³Allergy, Immunology and Rheumatology Division, University of Rochester Medical School, Canandaigua, NY, ⁴University of Rochester, West Henrietta, NY, ⁵New York University School of Medicine, New York, NY
Background/Purpose: The skin is recognized as a window into the immunopathogenic mechanisms driving the vast phenotypic spectrum of psoriatic disease.Methods: To better decipher the cellular…
Abstract Number: 2164 • ACR Convergence 2022
Profibrotic Alveolar Macrophages as a Potential Biomarker in Systemic Sclerosis-associated Interstitial Lung Disease
Nikolay Markov¹, Karolina Senkow¹, Anthony Esposito², Jonathan Puchalski³, Mridu Gulati³, Erica Herzog³, Danielle Antin-Ozerkis⁴, Mary Carns⁵, Alyssa Williams⁶, Nic Page⁶, Alexander Misharin¹ and Monique Hinchcliff⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²Brigham and Women's Hospital, Department of Medicine, Boston, MA, ³Yale School of Medicine, New Haven, CT, ⁴Section of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Yale University, New Haven, CT, ⁷Yale School of Medicine, Westport, CT
Background/Purpose: Interstitial lung disease (ILD) is a leading cause of death in patients with systemic sclerosis (SSc). Previously, profibrotic monocyte-derived alveolar macrophages (MoAM) expressing (SPP1,…
Abstract Number: 0251 • ACR Convergence 2022
Nuclear Factor of Activated T Cells Cytoplasmic 1 as a Potential Biomarker of Increased Cardiovascular Risk in Patients with Early Rheumatoid Arthritis
Sara Remuzgo-Martinez¹, Fernanda Genre¹, Veronica Pulito-Cueto², Alfonso Corrales¹, Virgi Portilla¹, Leticia Lera-Gómez¹, Belén Atienza-Mateo¹, María Sebastián Mora-Gil¹, J Gonzalo Ocejo-Vinyals³, Oreste Gualillo⁴, Ricardo Blanco⁵, Ivan Ferraz Amaro⁶, Santos Castañeda⁷, Raquel Lopez Mejias² and Miguel Ángel González-Gay⁸, 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, ²IDIVAL, Santander, Spain, ³Department of Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁴Hospital Clínico Universitario de Santiago, SERGAS (Servizo Galego de Saude) and IDIS (Instituto de Investigación Sanitaria de Santiago), NEIRID Lab (Neuroendocrine Interactions in Rheumatology and Inflammatory Diseases), Research Laboratory 9, Santiago de Compostela, Spain, ⁵Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain, ⁶Division of Rheumatology. Hospital Universitario de Canarias. Spain., Santa Cruz de Tenerife, Spain, ⁷Division of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Spain, ⁸Department 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
Background/Purpose: NFKB1, NKIRAS1, NFATc1, NFATc2 and MTHFR, inflammation and immune response-related genes, predispose to the increased risk of cardiovascular (CV) disease in patients with RA…

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