ACR Meeting Abstracts

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Abstracts tagged "Gene Expression"

  • 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…
  • Abstract Number: 7 • 2018 ACR/ARHP Annual Meeting

    RNA Sequencing Detection of Gene Dysregulation in B Cells Sorted from Salivary Gland Tissue and from Peripheral Blood Reveals New Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology

    Elodie Rivière1,2, Nicolas Tchitchek1, Gaetane Nocturne1,3, Juliette Pascaud1, Saida Boudaoud1, Alice Thai4, Normand Allaire4, Bernd Jagla5, Michael Mingueneau4 and Xavier Mariette1,3, 1Immunology of viral Infections and Autoimmune Diseases, IDMIT, CEA - Université Paris Sud - INSERM U1184, Le Kremlin Bicêtre & Fontenay aux Roses, France, 2Arthritis Fondation Courtin, Paris, France, 3Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, 4Immunology Research, Biogen, Cambridge, MA, 5Biomarker Discovery Platform UTechS CB, Hub de Bioinformatique et biostatistique C3IB, Institut Pasteur, Paris, France

    Background/Purpose: Primary Sjögren's syndrome (pSS) is a chronic auto-immune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Chronic B cell activation, the…
  • Abstract Number: 1121 • 2018 ACR/ARHP Annual Meeting

    Characterizing the T Cell Receptor Repertoire in Patients with Systemic Sclerosis

    Jennifer Franks1, Yue Wang2, Rajan Bhandari3, Diana M. Toledo4, Bhaven K. Mehta2, Tammara A. Wood5, Noelle Kosarek2, Monique Hinchcliff6, Chris Bailey-Kellogg7, Patricia A. Pioli8 and Michael L. Whitfield9, 1Geisel School of Medicine at Dartmouth, Hanover, NH, 2Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 3Geisel School of Medicine at Dartmouth, lebanon, NH, 4Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 5Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 6Rheumatology, Northwestern University, Chicago, IL, 7Computer Science, Dartmouth College, Hanover, NH, 8Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, 9Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: T cell receptors (TCRs) are a vital component of the adaptive immune system and TCR repertoire diversity is considered a measure of the immune…
  • Abstract Number: 2057 • 2018 ACR/ARHP Annual Meeting

    Alterations of the Splicing Machinery in Leukocyte Subsets of Rheumatoid Arthritis Patients Modulate Their Inflammatory, Autoimmune and Atherothrombotic Profiles

    Carlos Perez-Sanchez1, Alejandro Ibáñez-Costa2, Emilia Alors-Perez2, Sergio Pedraza-Arévalo2, Alejandra Maria Patiño-Trives2, María Luque Tevar2, Patricia Ruiz-Limon3, Nuria Barbarroja1, Yolanda Jiménez-Gómez1, Maria Carmen Abalos-Aguilera4, Pedro Segui5, Rafaela Ortega-Castro1, Jerusalem Calvo-Gutierrez1, Alejandro Escudero-Contreras4, Eduardo Collantes Estevez2, Justo P Castaño6, Raul M Luque6 and Chary Lopez-Pedrera2, 1Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 2IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 3Research Group of Endocrine Diseases, Research Laboratory. Biomedical Research Institute of Malaga (IBIMA).Virgen de la Victoria Universitary Hospital, Malaga, Spain., Málaga, MA, Spain, 4Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 5Radiology, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 6Department of Cell Biology, Physiology and Immunology. University of Cordoba, Reina Sofia Hospital, IMIBIC, CIBERobn, and ceiA3, Córdoba, Spain

    Background/Purpose: 1) To identify and characterize the alterations present in the splicing machinery in leukocyte subsets of Rheumatoid Arthritis (RA) patients, and 2) To evaluate…
  • Abstract Number: 102 • 2018 ACR/ARHP Annual Meeting

    Estrogen Controls the Expression of Serine Arginine-Rich Splicing Factor 1 (SRSF1) in Human T Lymphocytes Via Transcriptional and Post-Transcriptional Mechanisms

    Julian F. Oviedo1, Elena N. Cravens1 and Vaishali R. Moulton2,3, 1Beth Israel Deaconess Medical Center, Harvard Medical School, Medicine/Rheumatology, Boston, MA, 2Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, 3Division of Rheumatology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic debilitating autoimmune disease that primarily afflicts women in the childbearing years. Female hormones especially estrogen are implicated…
  • Abstract Number: 1472 • 2018 ACR/ARHP Annual Meeting

    Preliminary Analysis of Genetic Variants in the Immune System Related to the Body Mass Index in Early Arthritis Patients

    Pablo Moreno Fresneda1, Nuria Montes2, Javier Martin3, David Carmona4, Carmen Martinez5, Rosa P Gomariz6, Amalia Lamana2, Ana Triguero-Martinez7, Ana M. Ortiz Garcia8 and Isidoro Gonzalez-Alvaro9, 1Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, 2Rheumatology, HU La Princesa, Madrid, Spain, 3Instituto de Parasitología y Biomedicina López Neyra, Granada, Spain, 4Genetics, Universidad de Granada, Granada, Spain, 5Cellular Biology, School of Medicine. Universidad Complutense de Madrid, Madrid, Spain, 6Cellular Biology, School of Biology. Universidad Complutense de Madrid, Madrid, Spain, 7Rheumatology Service, Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa, Madrid, Spain, 8Rheumatology, Rheumatology Service, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, 9Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain

    Background/Purpose: We have observed in previous analyzes in our early arthritis (EA) cohort that patients with a higher body mass index (BMI) are, more frequently,…
  • Abstract Number: 2113 • 2018 ACR/ARHP Annual Meeting

    Identification of RNASE2 As a Novel Lupus Candidate Gene

    Yang Xu, Xiaojun Tang and Xuebing Feng, Department of Rheumatology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China

    Background/Purpose: Although many factors have been implicated to be involved in the development of systemic lupus erythematosus (SLE), the pathogenesis of this prototypical autoimmune disease…
  • Abstract Number: 112 • 2018 ACR/ARHP Annual Meeting

    Evidence for Altered Peroxisome Proliferator Activated Receptor (PPAR) Pathway Activity in a Transgenic Mouse Model of Scleroderma (TβRIIΔk-fib): Analysis of Mouse Skin, Lung and Explanted Cells

    Emma C. Derrett-Smith1,2, Shiwen Xu1, Rachel K. Hoyles3, Olivier Lacombe4, Pierre Broqua4, Jean-Louis Junien4, Irena Konstantinova5 and Christopher P. Denton6,7, 1Division of Medicine, University College London, London, United Kingdom, 2Rheumatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom, 3Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom, 4Inventiva, DAIX, France, 5Inventiva, Daix, France, 6UCL Division of Medicine, Royal Free Campus, London, United Kingdom, 7Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom

    Background/Purpose: The TβRIIΔk-fib transgenic (TG) mouse model of scleroderma carries a fibroblast-specific TGFβ receptor II mutation resulting in balanced up-regulation of TGFβ signalling and replicates…
  • Abstract Number: 1571 • 2018 ACR/ARHP Annual Meeting

    RNA Sequencing Detection of Gene Dysregulation in Epithelial Cells Sorted from Salivary Gland Tissue Reveals Interesting Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology

    Elodie Rivière1,2, Nicolas Tchitchek1, Gaetane Nocturne1,3, Juliette Pascaud1, Alexandre Virone1, Saida Boudaoud1, Alice Thai4, Normand Allaire4, Bernd Jagla5, Michael Mingueneau4 and Xavier Mariette1,3, 1Immunology of viral Infections and Autoimmune Diseases, IDMIT, CEA - Université Paris Sud - INSERM U1184, Le Kremlin Bicêtre & Fontenay aux Roses, France, 2Arthritis Fondation Courtin, Paris, France, 3Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, 4Immunology Research, Biogen, Cambridge, MA, 5Biomarker Discovery Platform UTechS CB, Hub de Bioinformatique et biostatistique C3IB, Institut Pasteur, Paris, France

    Background/Purpose: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Several lines of evidence support…
  • Abstract Number: 2130 • 2018 ACR/ARHP Annual Meeting

    Interferon Induced Gene Transcripts Are Differentially Upregulated in the Kidney of Lupus Nephritis Patients Irrespective of Activity or Damage

    S. Sam Lim1, Alton B Farris1, Tobias Guennel2, Shiliang Wang3, Jason Cobb1, Dominic Sinibaldi4, Scott Jenks1, Ignacio Sanz1, Xiang Guo3, Gabor Illei5, Kui Shen2, Monica Battle1, Chungwen Wei1 and WI White3, 1Emory University School of Medicine, Atlanta, GA, 2Precision for Medicine, Frederick, MD, 3MedImmune, Gaithersburg, MD, 4MedImmune, Gaithersberg, MD, 5Viela Bio, Gaithersburg, USA, Gaithersberg, MD

    Background/Purpose:  Lupus nephritis (LN) afflicts 12-69% lupus patients. Even with the best available therapies, complete response is achieved in only 10-85% of patients. The risk…
  • Abstract Number: 125 • 2018 ACR/ARHP Annual Meeting

    Monocyte Transcriptome Delineates SSc Patients with Functionally Distinct Patterns of Gene Dysregulation That Persist through Differentiation

    Julia L.M. Dunn1, Philip J. Homan2, Salina Dominguez1, Carla M. Cuda1, Kathleen Aren3, Mary A. Carns3,4, Tracy M. Frech5, Dinesh Khanna6, Shervin Assassi7, Harris Perlman1, Monique Hinchcliff1 and Deborah R. Winter1, 1Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, 2Division of Rheumatology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, 3Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, 4Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, 5Division of Rheumatology, University of Utah, Salt Lake City, UT, 6Division of Rheumatology, University of Michigan, Ann Arbor, MI, 7Rheumatology, University of Texas Health Science Center at Houston, Houston, TX

    Background/Purpose: The etiology and pathogenesis of SSc are poorly understood; however, an increasing body of evidence supports an early inflammatory phase that precedes, and may…
  • Abstract Number: 1665 • 2018 ACR/ARHP Annual Meeting

    Longitudinal Stratification of Gene Expression Reveals Three SLE Groups of Disease Activity Progression

    Daniel Toro1, Jordi Martorell-Marugán2, Daniel Goldman3, Michelle Petri4, Pedro Carmona Sanz5 and Marta Alarcón-Riquelme6,7, 1Bioinformatics and Medical Genomics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Ganada, Spain, 2Bioinformatics Unit, Center for Genomics and Oncological Research (GENYO), Granada, Spain, 3Medicine (Rheumatology), Johns Hopkins University School of Medicine, Baltimore, MD, 4Johns Hopkins University School of Medicine, Baltimore, MD, 5Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, 6Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, 7Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain

    Background/Purpose: The highly heterogeneous clinical presentation of lupus is characterized by the unpredictable appearance of flares of disease activity and important organ damage. Attempts to…
  • Abstract Number: 2238 • 2018 ACR/ARHP Annual Meeting

    Non-Coding Urate-Associated Variants Function in a Conserved Lincrna Regulatory Domain That Alters MAF transcription

    Megan Leask1, Tony R. Merriman1, Amy Dowdle1, Hamish Salvesen1, Ruth Topless1, Tayaza Fadason2, Wenhua Wei1, William Schierding2, Justin O'Sullivan2 and Julia Horsfield1, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand

    Background/Purpose: Genome-wide association studies (GWAS) have revealed that the large majority of disease-associated single nucleotide polymorphisms (SNPs) are located in the non-coding regions of the…
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