Abstracts tagged "Gene Expression"

Abstract Number: 0040 • ACR Convergence 2020
Whole Blood RNA Expression in Clinically Suspected Arthralgia Patients Shows a Potential Value in Prediction of Inflammatory Arthritis
Ellis Niemantsverdriet¹, Erik van den Akker¹, Debbie Boeters¹, Susan van den Eeden¹, Annemieke Geluk¹ and Annette van der Helm - van Mil², ¹Leiden University Medical Center, Leiden, Netherlands, ²Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands
Background/Purpose: Rheumatoid arthritis (RA)-patients have differently expressed genes involved in cytokine/chemokine-mediated immunity compared to healthy controls, which are changed years before RA-diagnosis. It is unclear,…
Abstract Number: 1225 • ACR Convergence 2020
Targeting to IL-6 or Specific JAKs for RA Treatment: Seeking a Rationale for Switching Each Other If One of These Treatments Resulted in Lack of Efficacy
Yoshinobu Koyama¹, Yoshiharu Sato², Hiroshi Iijima², Moe Sakamoto³ and Toshie Higuchi³, ¹Okayama Red Cross Hospital, Japanese Red Cross Society, Okayama, Japan, ²DNA Chip Research Inc, Tokyo, Japan, ³Division of Rheumatology, Okayama Red Cross Hospital, Japanese Red Cross Society, Okayama, Japan
Background/Purpose: Inhibition of IL-6 signaling is one of the most established strategies for RA treatment. Tocilizumab (TCZ) is the pioneer which blocks IL-6 signaling by…
Abstract Number: 2033 • ACR Convergence 2020
Large-scale Examination of Longitudinal Skin Gene Expression and Its Associations with Skin Thickness in Systemic Sclerosis
Brian Skaug¹, Marka Lyons¹, William Swindell², Gloria Salazar¹, Julio Charles¹, Connor Vershel¹, Maureen Mayes³ and Shervin Assassi³, ¹University of Texas Houston, McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX, ²The Jewish Hospital, Department of Internal Medicine, Cincinnati, OH, ³University of Texas Houston McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX
Background/Purpose: Numerous studies have revealed dysregulated gene expression in the skin of systemic sclerosis (SSc) patients, with varying degrees of inflammatory/immune and fibroblast upregulation. However,…
Abstract Number: 0068 • ACR Convergence 2020
Single Cell RNA-seq to Characterize Monocyte Subtypes in the Autoinflammatory Interferonopathy, SAVI and the Inflammasomopathy, NOMID
Ying Zhang¹, Bernadette Marrero², Adriana de Jesus³, Sara Alehashemi⁴, Jinguo Chen⁵, Rongye Shi⁶, Huizhi Zhou⁶, Clifton Dalgard⁷, Manfred Boehm⁸ and Raphaela Goldbach-Mansky⁹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Computational Systems Biology Section/NIAID/NIH, Bethesda, MD, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁵Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, MD, ⁶Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, ⁷Department of Anatomy, Physiology and Genetics, Uniformed Services University of Health Sciences, Bethesda, ⁸Center for Molecular Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ⁹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Monocytes are pivotal producers of key inflammatory cytokines that drive autoinflammatory diseases. In SAVI, constitutive STING activation causes chronic activation with increased type-I IFN…
Abstract Number: 1448 • ACR Convergence 2020
Single-cell RNA Sequencing of Livedo Reticularis Skin Reveals Endothelial Pathology in Antiphospholipid Syndrome
Hui Shi¹, Allison Billi¹, Rachael Wasikowski¹, Kelsey Gockman¹, Alex Tsoi¹, Johann Gudjonsson² and Jason Knight³, ¹University of Michigan, Ann Arbor, ²University of Michigan, Ann ArborUniversity of Michigan, ³Division of Rheumatology, University of Michigan, Ann Arbor, MI
Background/Purpose: Antiphospholipid syndrome (APS) is a thromboinflammatory disease that can present with a variety of clinical phenotypes. Livedo reticularis is the most common skin manifestation…
Abstract Number: 0173 • ACR Convergence 2020
mTORC1 Signaling Promotes Monocytosis and Arthritis Development in IL-1 Receptor Antagonist-deficient Mice
Zhengping Huang¹, Ying Li², Alexandra Wactor³, Peter Nigrovic⁴ and Pui Lee⁵, ¹1.Guangdong Second Provincial General Hospital;2.Brigham and Women's Hospital;3.Harvard Medical School, BOSTON, MA, ²1.Brandeis University;2.Brigham and Women's Hospital, Waltham, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston, ⁵1.Boston Children's Hospital;2.Brigham and Women's Hospital;3.Harvard Medical School, Newton, MA
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is potentially life-threatening disease characterized by prolonged fever, systemic inflammation and skin rash in addition to joint inflammation. Aberrant…
Abstract Number: 1450 • ACR Convergence 2020
Integrative Analysis of DNA Methylation and Gene Expression in Monocytes from Primary Antiphospholipid Syndrome Patients Identifies a Gene Expression Signature Associated with Their Atherothrombotic Phenotype
Carlos Pérez-Sánchez¹, M Angeles Aguirre², Alejandra Maria Patiño-Trives¹, Laura Pérez-Sanchez³, Maria Luque-Tevar¹, Iván Arias de la Rosa¹, María-Carmen Abalos-Aguilera¹, Pedro Segui⁴, Javier Rodriguez-Ubreva⁵, Esteban Ballestar⁵, Nuria Barbarroja¹, Eduardo Collantes-Estévez² and Chary Lopez-Pedrera¹, ¹Rheumatology Department, Reina Sofia University Hospital/ Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ University of Cordoba, Cordoba, Spain, Cordoba, Spain, ²Rheumatology Department, Reina Sofia University Hospital/ Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ University of Cordoba, Cordoba, Spain, Córdoba, Spain, ³Hospital Universitario Reina Sofía, Córdoba, Spain, ⁴IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, ⁵Josep Carreras Institute (IJC), Badalona, Spain
Background/Purpose: 1. To develop integrated analyses of the genome-wide DNA methylation and gene expression profiles in monocytes from APS patients and assess their involvement in…
Abstract Number: 976 • 2019 ACR/ARP Annual Meeting
Identification of Novel Genes Associated with Dysregulation of B Cells in Patients with Primary Sjögren’s Syndrome
Jun Inamo¹, Katsuya Suzuki ², Masaru Takeshita ², Yoshiaki Kassai ³, Maiko Takigchi ⁴, Rina Kurisu ⁴, Yuumi Okuzono ⁴, Shinya Tasaki ⁵ and Tsutomu Takeuchi ⁶, ¹Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Tokyo, Japan, ²Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan, ³Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Tokyo, Japan, ⁴Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁵Integrated Technology Research Laboratories, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁶Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Dysregulation of B cells play a critical role in the pathogenesis of primary Sjögren’s syndrome (pSS). Long non-coding RNAs (lncRNAs), which have become the…
Abstract Number: 1053 • 2019 ACR/ARP Annual Meeting
Parallel Analysis of Systemic Sclerosis and Keloidal Morphea Skin Biopsies Delineates the Hallmark Profibrotic Gene Expression Profile for Scleroderma in Vivo
Kristina Clark¹, Corrado Campochiaro ¹, Nataliya Gak ¹, Emma Derrett-Smith ¹ and Christopher Denton ², ¹University College London, London, United Kingdom, ²University College London Division of Medicine, Centre for Rheumatology and Connective Tissue Diseases, London, UK, London, United Kingdom
Background/Purpose: We have examined whole skin biopsy gene expression by RNAseq in a rare subgroup of scleroderma with both systemic sclerosis (SSc) and concurrent keloidal…
Abstract Number: 1068 • 2019 ACR/ARP Annual Meeting
Classical Monocytes from African Ancestry Patients with Systemic Sclerosis Show Transcription and Energy Regulation Gene Expression Signatures
Paula Ramos¹, Willian da Silveira ², Jena Wirth ¹, Nathan Wilson ¹, Robert Wilson ¹, Jin Hyun Nam ¹, E. Starr Hazard ¹, Jim Oates ³, Melissa Cunningham ¹, Dongjun Chung ¹ and Gary Hardiman ², ¹Medical University of South Carolina, Charleston, ²Queen’s University, Belfast, United Kingdom, ³Division of Rheumatology & Immunology/Medical University of South Carolina, Charleston, SC
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disorder characterized by immune dysregulation, cutaneous and visceral fibrosis, and vasculopathy. It disproportionately affects African ancestry (AA)…
Abstract Number: 1290 • 2019 ACR/ARP Annual Meeting
Identification of Distinctive Interferon Gene Signatures in Different Types of Inflammatory Myopathy
Iago Pinal-Fernandez¹, Maria Casal-Dominguez ¹, Assia Derfoul ¹, Katherine Pak ¹, Paul Plotz ¹, Frederick W. Miller ², Jose C Milisenda ³, Josep M Grau-Junyent ³, Albert Selva-O'Callaghan ⁴, Julie Paik ⁵, Jemima Albayda ⁶, Lisa Christopher-Stine ⁷, Thomas E Lloyd ⁵, Andrea M Corse ⁵ and Andrew L Mammen ¹, ¹National Institutes of Health, Bethesda, ²NIEHS, NIH, Bethesda, MD, ³Clinic Hospital, Barcelona, ⁴Department of Systemic Autoimmune Diseases, Hospital Universitario Valle de Hebron, Barcelona, Spain, Barcelona, ⁵Johns Hopkins, Baltimore, ⁶Johns Hopkins University, Baltimore, MD, ⁷Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Activation of the type 1 interferon (IFN1) pathway is a prominent feature of dermatomyositis (DM) muscle and may play a role in the pathogenesis…
Abstract Number: 1866 • 2019 ACR/ARP Annual Meeting
Gene Expression Meta-Analysis Reveals Commonalities in Gene Activation and Enrichment of Immune Pathways and Cell Types in Dermatomyositis Target Tissues
Jessica Neely¹, Dmitry Rychkov ¹, Manish Paranjpe ¹, Michael Waterfield ², Susan Kim ¹ and Marina Sirota ², ¹University of California, San Francisco, San Francisco, CA, ²University of California, San Francisco, San Francisco
Background/Purpose: Dermatomyositis (DM) is a complex immune-mediated disease resulting in muscle and skin inflammation. Prior studies of gene expression in DM have revealed a type…
Abstract Number: 1903 • 2019 ACR/ARP Annual Meeting
BTK Overexpression Is Associated with the Risk of Lymphoma in Primary Sjögren’s Syndrome: Data from Whole Blood Transcriptome of 346 Patients Followed-up Prospectively for 10 Years
Pierre-Marie Duret¹, Tao Ye ², Wan-Fai Ng ³, Alain Saraux ⁴, Valérie Devauchelle Pensec ⁵, Raphaele Seror ⁶, Veronique Le-Guern ⁷, Claire Larroche ⁸, Aleth Perdriger ⁹, Jean Sibilia ¹⁰, Jessica Tarn ¹¹, Gaetane Nocturne ¹², Xavier Mariette ¹³ and Jacques-Eric Gottenberg ¹⁴, ¹Hôpitaux civils de Colmar, COLMAR CEDEX, France, ²GenomEAST platform / Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, Institut de Génétique et de Biologie Moléculaire, IGBMC, Strasbourg, France, ³Musculoskeletal Research Group Institute of Cellular Medicine Faculty of Medical Sciences Newcastle University, Newcastle, United Kingdom, ⁴CHU de la Cavale-Blanche Brest, Brest, France, ⁵University Hospital of Brest, Brest, France, ⁶Hopitaux universitaires Paris Sud, Kremlin-Bicetre, France, ⁷Department of Internal Medicine, Referral Center for Rare Autoimmune and Systemic Diseases, Hôpital Cochin, AP-HP, Université Paris Descartes, Paris, France,, Paris, France, ⁸Internal Medicine, Paris, France, Paris, France, ⁹Rheumatology department, Rennes University Hospital, France, Rennes, France, ¹⁰CHU Strasbourg, Strasbourg, France, ¹¹Institute of Cellular Medicine Newcastle University, Newcastle, United Kingdom, ¹²Center for Immunology of Viral Infections and Autoimmune Diseases, Assistance Publique – Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, Université Paris Sud, INSERM, Paris, France., Paris, France, ¹³Center for Immunology of Viral Infections and Autoimmune Diseases, Assistance Publique – Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, Université Paris Sud, INSERM, Paris, France, ¹⁴Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France
Background/Purpose: To identify a molecular signature associated with lymphomagenesis in primary Sjögren’s Syndrome (pSS).Methods: Whole peripheral blood samples were collected from 346 well-phenotyped pSS patients…
Abstract Number: 2504 • 2019 ACR/ARP Annual Meeting
Differential Expression of Human Endogenous Retroviruses in Psoriatic Disease
Remy Pollock¹, Rohan Machhar ¹, Laila Zaman ¹, Dafna Gladman ² and Vinod Chandran ³, ¹Krembil Research Institute, University Health Network, Toronto, Canada, ²Toronto Western Hospital, Toronto, Canada, Toronto, ON, Canada, ³University Health Network, University of Toronto, Toronto, Canada
Background/Purpose: Human endogenous retroviruses (HERV) are the stably inherited remnants of ancient retroviruses that infected the ancestral germline. A growing body of research has associated…
Abstract Number: 2558 • 2019 ACR/ARP Annual Meeting
Profiling of Gene Expression, Immune Cell Subtypes, and Circulating Protein Biomarkers in Systemic Lupus Erythematosus Patients Treated with the Selective Immunoproteasome Inhibitor, KZR-616
R Andrea Fan¹, Janet Anderl ¹, Brian Tuch ², Darrin Bomba ¹, Niti Goel ³ and Christopher Kirk ¹, ¹Kezar Life Sciences, South San Francisco, CA, ²Kezar Life Sciences, south san francisco, ³Kezar Life Sciences, Duke University School of Medicine, South San Francisco, CA
Background/Purpose: KZR-616 is a selective inhibitor of the immunoproteasome, the form of proteasome found predominantly in immune cells. In nonclinical studies, KZR-616 blocks acute production…

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