Abstracts tagged "Gene Expression"

Abstract Number: 1670 • ACR Convergence 2020
Low Copy Number of Long C4 Genes Is a Genetic Risk Factor for Childhood Onset SLE (cSLE) but Is Associated with Higher Age of Disease Onset
Fatima Barbar-Smiley¹, Danlei Zhou², Joanne Drew², Bi Zhou², Cagri Yildirim-Toruner², Vidya Sivaraman³, Wael Jarjour⁴, Stacy Ardoin² and Chack-Yung Yu⁵, ¹Nationwide Children's Hospital/The Ohio State University, Columbus, OH, ²Nationwide Children's Hospital, Columbus, OH, ³Nationwide Children's Hospital, Bexley, OH, ⁴The Ohio State University, Columbus, OH, ⁵Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH
Background/Purpose: Hypocomplementemia is a marked feature of systemic lupus erythematosus (SLE), which may be a result of consumption initiated by immune complexes between self-nuclear antigens…
Abstract Number: 0969 • ACR Convergence 2020
Investigating Murine Joint-Draining Lymphatics: Lineage Tracing and Single Cell RNA Sequencing Reveal Evidence That Popliteal Lymphatic Muscle Cells and Their Progenitors Represent Distinct Cell Types Divergent from Striated and Vascular Muscle Cells
H. Mark Kenney¹, Richard Bell², Elysia Masters¹, Lianping Xing¹, Christopher Ritchlin³ and Edward Schwarz¹, ¹University of Rochester Medical Center, Rochester, ²Hospital for Special Surgery, New York, ³Department of Medicine, University of Rochester Medical Center, Rochester, NY
Background/Purpose: Previous studies demonstrated that tumor necrosis factor transgenic (TNF-Tg) mice with inflammatory arthritis have damaged lymphatic muscle cells (LMCs) and eventual loss of popliteal…
Abstract Number: 1850 • ACR Convergence 2020
The Association Between Imaging Sub-phenotypes of Psoriatic Arthritis and Gene Expression Profiles
Lihi Eder¹, Lee Quan², Sara Rahmati³, Iris Eshed⁴, Proton Rahman⁵, Igor Jurisica⁶ and Vinod Chandran⁷, ¹Women’s College Research Institute, University of Toronto, Toronto, ON, Canada, ²University of Toronto, Toronto, Canada, ³University Health Network, Toronto, ON, Canada, ⁴Sheba Medical Center, Tel-Aviv, Israel, ⁵Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ⁶Krembil RI, Toronto, Canada, ⁷Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Heterogeneity is a hallmark of psoriatic arthritis (PsA), which is reflected in diverse clinical, imaging and molecular features, various disease courses and treatment responses.…
Abstract Number: 0971 • ACR Convergence 2020
Single-cell Profiling of Synovial Stromal Cells Reveals an Angiocrine Endothelium in Rheumatoid Arthritis
Kevin Wei¹, Ilya Korsunsky², Jennifer Marshall³, Gerald Watts⁴, Triin Major³, Zhu Zhu⁴, Yuhong Li⁵, Christopher Buckley⁶, Soumya Raychaudhuri⁷ and Michael Brenner¹, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Rheumatology Research Group, Institute for Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Queen Elizabeth Hospital, Birmingham, United Kingdom, ⁴Brigam and Women's Hospital, Boston, ⁵Brigham and Women's Hospital, Boston, ⁶University of Birmingham, Birmingham, United Kingdom, ⁷Brigham and Women’s Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Vascular endothelial cells that provide the structure for blood vessels have traditionally been perceived as passive, structural units that provide blood flow. We recently…
Abstract Number: 1910 • ACR Convergence 2020
Integrated Molecular Analysis of Systemic Sclerosis Skin and Blood Highlights Significant Differences Between Major Autoantibody Subgroups
Kristina Clark¹, Corrado Campochiaro², Eszter Csomor³, Adam Taylor³, Katherine Nevin³, Nicholas Galwey³, Mary Morse³, Voon Ong⁴, Emma Derrett-Smith⁵, Shaun Flint³ and Christopher Denton¹, ¹University College London, London, United Kingdom, ²Royal Free Hospital NHS trust, London, United Kingdom, ³GlaxoSmithKline, Stevenage, United Kingdom, ⁴UCL, London, United Kingdom, ⁵University College London Division of Medicine, London, United Kingdom
Background/Purpose: The major antinuclear autoantibodies of systemic sclerosis (SSc) associate with different skin score trajectories and risk of internal organ manifestations. To elucidate molecular differences…
Abstract Number: 2898 • 2019 ACR/ARP Annual Meeting
Evaluation of the Transcriptome of Non-Lesional, Non-Sun Exposed Skin in Patients with Lupus Nephritis
Hemant Suryawanshi¹, Robert Clancy ², Evan Der ³, Peter Izmirly ², H Michael Belmont ⁴, Chaim Putterman ⁵, Jill Buyon ² and Thomas Tuschl ¹, ¹Rockefeller Research Laboratories, New York, ²NYU School of Medicine, New York, ³Albert Einstein College of Medicine, New York, ⁴NYU Langone Health, New York, NY, ⁵Albert Einstein College of Medicine, New York, NY
Background/Purpose: The impact of renal injury in lupus nephritis (LN) is widespread with consequences to resident cells in other tissue beds, even non-lesional, non-sun exposed…
Abstract Number: 45 • 2019 ACR/ARP Annual Meeting
bDMARD-experienced Filgotinib-treated Patient Samples Exhibit a Partial Reversion to the Peripheral Molecular Profile of a Demographically Matched Healthy Population
Peter Taylor¹, Emon Elboudwarej ², Bryan Downie ³, Lene Vestergaard ², Jinfeng Liu ², Amer M. Mirza ² and Rachael Hawtin ², ¹University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster City, CA, ³Gilead Sciences, Inc., Foster Citty, CA
Background/Purpose: Filgotinib (FIL), an oral, selective, Janus Kinase 1 (JAK1) inhibitor was effective in Phase 3 studies of active RA in patients (pts) with inadequate…
Abstract Number: 49 • 2019 ACR/ARP Annual Meeting
Towards a Single Cell Portrait of Rheumatoid Arthritis – Development of a Single Cell Multiomics Pipeline for Phase 2 of the Accelerating Medicine Partnership (AMP) – RA Network
Kevin Wei¹, Anna Helena Jonsson ¹, Fan Zhang ², Aparna Nathan ³, Joseph Mears ², Gerald Watts ², Zhu Zhu ², ilya Korsunsky ², Laura Donlin ⁴, Deepak Rao ², Andrew Filer ⁵, Accelerating Medicine Partnership (AMP) ⁶, Brendan Boyce ⁷, Ellen Gravallese ⁸, V. Michael Holers ⁹, Larry Moreland ¹⁰, Peter Gregersen ¹¹, Vivian Bykerk ¹², Jennifer Anolik ⁷, Soumya Raychaudhuri ² and Michael Brenner ¹³, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Harvard Medical School, Boston, MA, ⁴Hospital For Special Surgery, New York, NY, ⁵Institute of Inflammation and Ageing College of Medical and Dental Sciences University of Birmingham, Birmingham, United Kingdom, ⁶Brigham and Women's Hospital, Boston, ⁷University of Rochester Medical Center, Rochester, NY, ⁸University of Massachusetts Medical School, Worcester, MA, ⁹University of Colorado Denver, Division of Rheumatology, Aurora, CO, USA, Denver, ¹⁰University of Pittsburgh, PITTSBURGH, PA, ¹¹Feinstein Institutes for Medical Research, Manhasset, NY, ¹²Hospital for Special Surgery, New York City, NY, ¹³Brigham and Women’s Hospital:, Boston
Background/Purpose: The goal of the Accelerating Medicines Partnership (AMP) program is to study synovial tissue from individuals with rheumatoid arthritis (RA) using high-dimensional analyses. During…
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…

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