ACR Meeting Abstracts

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Abstracts tagged "Gene Expression"

  • Abstract Number: L04 • ACR Convergence 2022

    Psoriatic Arthritis Disease Subtypes Mediated by CD8 T Cells Are Phenocopied in a Novel Humanized Murine Model of Psoriasis and Arthritis

    Maria de la Luz Garcia-Hernandez1, Javier Rangel-Moreno1, Ananta Paine2, Soumyaroop Bhattacharya3, Jeffrey Fox4, Ernest Meyer5, Brian Isett5, Riyue Bao6, Tullia Bruno6 and Christopher Ritchlin7, 1University of Rochester, Rochester, NY, 2ORNA Tx, Southborough, MA, 3Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, 4CMSR, University of Rochester Medical Center, Rochester, NY, 5UPMC Hillman Cancer Center, Pittsburgh, PA, 6University of Pittsburgh, Pittsburgh, PA, 7University of Rochester Medical Center, Rochester, NY

    Background/Purpose: A pivotal clinical characteristic of psoriatic arthritis (PsA) is disease manifestations in several domains (skin, entheses, joints, spine) and multiple domain involvement is prevalent,…
  • Abstract Number: 0519 • ACR Convergence 2022

    Myeloablation Followed by Hematopoietic Stem Cell Transplantation Leads to Long-term Normalization of Systemic Sclerosis Molecular Signatures

    Nancy Wareing1, Xuan Wang2, Lynette Keyes-Elstein3, Ellen Goldmuntz4, Marka Lyons5, Peter McSweeney6, Daniel Furst7, Richard Nash6, Leslie Crofford8, Beverly Welch9, Ashley Pinckney10, Maureen Mayes11, Keith Sullivan12 and Shervin Assassi13, 1UTHealth Houston McGovern Medical School, Houston, TX, 2Baylor Institute for Immunology Research, Dallas, TX, 3Rho, Chapel Hill, NC, 4NIAID/ NIH, Washington, DC, 5University of Texas McGovern Medical School at Houston, Houston, TX, 6Colorado Blood Cancer Institute, Denver, CO, 7University of California Los Angeles, Los Angeles, CA, 8Vanderbilt University Medical Center, Nashville, TN, 9NIAID/NIH, Bethesda, MD, 10Rho, St. Louis Park, MN, 11Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, 12Duke University, Durham, NC, 13McGovern Medical School, University of Texas, Houston, TX

    Background/Purpose: In the randomized Scleroderma: Cyclophosphamide Or Transplantation (SCOT trial), normalization of systemic sclerosis (SSc) peripheral blood gene expression signatures at the 26-month visit was…
  • Abstract Number: 0935 • ACR Convergence 2022

    Targeted Synovial Tissue RNA-Seq Coupled with Artificial Intelligence Accurately Predicts Early Rheumatoid Arthritis Patients Likely to Respond to CsDMARDs, Enriching CsDMARDs Response Rates and Enabling Early Identification of Patients Requiring Subsequent Biological Therapy

    Giorgio CASABURI, Tyler O'Malley, Todd Holscher and Ming-Chou Lee, Exagen, Inc., Vista, CA

    Background/Purpose: Rheumatoid arthritis (RA) is a chronic, inflammatory, systemic autoimmune disease, affecting the joints with varying severity. RA affects approximately 0.5/1% of adults in the…
  • Abstract Number: 1716 • ACR Convergence 2022

    The Transcriptomic Landscape of Nephritic Kidneys Reveals Mechanisms for End Organ Resistance to Damage in Lupus-prone Mice

    Andrea Daamen1, Hongyang Wang2, Prathyusha Bachali3, Shu Man Fu2, Amrie Grammer4 and Peter Lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2University of Virginia, Charlottesville, VA, 3AMPEL BioSolutions, Redmond, WA, 4AMPEL LLC, Charlottesville, VA

    Background/Purpose: Pathologic inflammation is a major driver of kidney damage in lupus nephritis (LN), but the immune mechanisms of disease progression and risk factors for…
  • Abstract Number: 0528 • ACR Convergence 2022

    Nasal Epithelial Gene Expression Profiling Preceding Relapse in Patients with Granulomatosis with Polyangiitis

    Fang R. Zhao1, Rebecca Deek2, James Garifallou3, Jalal Jalaly2, Cailu Lin4, Danielle Reed4, Shubhasree Banerjee2, Naomi Amudala2, Antoine Sreih5, Sherry Chou2, Virginia Livolsi2, Ronald Collman2, Hongzhe Lee2, Peter Merkel2, Peter Grayson6, Noam Cohen2, Jonathan Miner2 and Rennie Rhee2, 1Washington University in St. Louis, St. Louis, MO, 2University of Pennsylvania, Philadelphia, PA, 3Children's Hospital of Philadelphia, Philadelphia, PA, 4Monell Center, Philadelphia, PA, 5Bristol Myers Squibb, Philadelphia, PA, 6National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: Predicting relapse is a major challenge in granulomatosis with polyangiitis (GPA). We previously demonstrated changes in the nasal microbiota, particularly Corynebacterium tuberculostearicum, prior to…
  • Abstract Number: 0984 • ACR Convergence 2022

    Impact of Hydroxychloroquine on Interferon Pathway Expression of SLE Phenotypic Subsets in the Absence of Background Medications

    Colin Mowery, Miles Smith, Kevin Thomas, Susan Macwana, Wade deJager, Stan Kamp, Cristina Arriens, Teresa Aberle, Judith James, Joel Guthridge and Joan Merrill, Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: Chronic activation of interferon (IFN) pathways is a key driver of immune dysregulation in SLE. Hydroxychloroquine (HCQ) inhibits toll-like receptors 7 and 9 in…
  • Abstract Number: 1736 • ACR Convergence 2022

    IL-23 Signaling Induces Autoimmune Disease Genes in Mucosal-Associated Invariant T Cells

    Tharshana Stephen1, Ambre Dangien1, Claire Leloup1, Ikram Mezghiche1, Laetitia Camard1, Hanan Yahia-Cherbal1, Vincent Guillemot2, Natalia Pietrosemoli1, Hélène Lopez-Maestre1, Julie Marsande1, Milena Hasan1, Dan Cua3, Anne Fourie4, Carrie Greving5, Raphaelle Parker6, Barbara Joyce Shaikh7, Bénédicte Oulès8, Sarah Guégan8, Sélim Aractingi8, Elisabetta Bianchi1 and Lars Rogge1, 1Institut Pasteur, Paris, France, 2Institut Pasteur, Paris, Ile-de-France, France, 3Janssen Research and Development, LLC, Spring House, PA, 4Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, CA, 5Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, 6Janssen Research & Development, Janssen-Cilag, Paris, France, 7Janssen Research & Development, LLC, San Diego, CA, 8Hôpital Cochin, AP-HP, Paris, France

    Background/Purpose: Genome-wide association studies and mouse models of autoimmune disease have demonstrated an important role of the IL-23 signaling pathway in the pathogenesis of axial…
  • Abstract Number: 0547 • ACR Convergence 2022

    Profiling of Systemic Immune Responses in Axial Spondyloarthritis Patients Reveals Strikingly Distinct Cellular and Molecular Mechanisms of Action of IL-17A Inhibitors and TNF-Blockers

    Nicolas Rosine1, Surya Koturan1, Vincent Guillemot2, Claire Leloup1, Fanni Veress1, Tharshana Stephen1, Hanan Yahia-Cherbal1, Jérémie SELLAM3, Francis Berenbaum4, Natalia Pietrosemoli1, Elisabetta Bianchi1, Corinne MIceli5 and Lars Rogge1, 1Institut Pasteur, Paris, France, 2Institut Pasteur, Paris, Ile-de-France, France, 3Sorbonne Universite, AP-HP, Saint-Antoine hospital, Paris, France, 4Sorbonne University - Saint-Antoine hospital, Paris, France, 5APHP, Paris, France

    Background/Purpose: IL-17A inhibitors (IL-17i) and TNF-inhibitors (TNFi) are currently the only biologic drugs available to treat axial spondyloarthritis (axSpA). While several studies have provided mechanistic…
  • Abstract Number: 1120 • ACR Convergence 2022

    Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues

    Marcin Radziszewski1, Mandi Wiley1, Bhuwan Khatri1, Kandice Tessneer1, Astrid Rasmussen1, Professor Simon Bowman2, Lida Radfar3, Roald Omdal4, Marie Wahren-Herlenius5, Blake Warner6, Torsten Witte7, Roland Jonsson8, Maureen Rischmueller9, Patrick Gaffney1, Judith James1, Lars Ronnblom10, R. Hal Scofield3, Xavier Mariette11, Marta Alarcon-Riquelme12, Fai Ng13, Gunnel Nordmark10, Umesh Deshmukh1, A. Darise Farris1 and Christopher Lessard1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2University Hospitals Birmingham, Birmingham, United Kingdom, 3University of Oklahoma Health Sciences Center, Oklahoma City, OK, 4Stavanger University, Stavanger, Norway, 5Karolinska Institutet, Stockholm, Sweden, 6National Institutes of Health, Bethesda, MD, 7MH-Hannover, Hannover, Germany, 8University of Bergen, Bergen, Norway, 9RheumatologySA, Adelaide, Australia, 10Uppsala University, Uppsala, Sweden, 11Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, 12Center for Genomics and Oncological Research (GENYO), Granada, Spain, 13Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

    Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
  • Abstract Number: 1738 • ACR Convergence 2022

    Characterization of T Cell Subsets in the Synovium of Chronic Inflammatory Joint Diseases

    Alexandra Khmelevskaya1, Miranda Houtman2, Kristina Buerki3, Chantal Pauli4, Sam Edalat3, Mojca Frank-Bertoncelj3, Oliver Distler5, Adrian Ciurea6, Caroline Ospelt7 and Raphael Micheroli8, 1Center of Experimental Rheumatology, University Hospital of Zurich, Zürich, Switzerland, 2University of Zurich, Schlieren, Switzerland, 3Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, Zürich, Switzerland, 4Department of Pathology, University Hospital Zurich, Zürich, Switzerland, 5Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, 6University Hospital Zurich, Zürich, Switzerland, 7Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, 8University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland

    Background/Purpose: Rheumatoid arthritis (RA), psoriatic arthritis (PsA), peripheral spondyloarthritis (pSpA), and undifferentiated arthritis (UA) are chronic immune-mediated conditions characterized by joint inflammation. The specific role…
  • Abstract Number: 0588 • ACR Convergence 2022

    S-nitrosoglutathione Reductase (GSNOR) Regulates Osteoclast Differentiation

    Toshihiro Tanioka1, Kohei Maeda1, Rei Takahashi1 and Takeo Isozaki2, 1Division of Pathogenesis and Translational Medicine, Department of Clinical Pharmacy, Showa University School of Pharmacy, Tokyo, Japan, 2Division of Rheumatology, Department of Medicine, Showa University School of Medicine, Tokyo, Japan

    Background/Purpose: S-nitrosoglutathione (GSNO) reductase (GSNOR) is an enzyme which decomposes GSNO and downregulates protein S-nitrosylation. It has been reported that GSNOR KO mice have enhanced…
  • Abstract Number: 1126 • ACR Convergence 2022

    Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis

    Urvashi Kaundal1, Emilee Stenson1, Mousumi Sahu1, Krishan Kumar Thakur1, Janet Wang1, Ami Shah2, Maureen Mayes3, Ayo Doumatey4, Amy Bentley4, Daniel Shriner4, Robyn Domsic5, Thomas Medsger6, Paula Ramos7, Richard Silver7, Virginia Steen8, John Varga9, Vivien Hsu10, Lesley Ann Saketkoo11, Elena Schiopu12, Dinesh Khanna13, Jessica Gordon14, Lindsey Criswell15, Heather Gladue16, Chris Derk17, Elana Bernstein18, S. Louis Bridges, Jr.14, Victoria Shanmugam19, Lorinda Chung20, Suzanne Kafaja21, Reem Jan22, Marcin Trojanowski23, Avram Goldberg24, Benjamin Korman25, Jim Mullikin4, Stefania Dell'Orso1, Adebowale Adeyemo4, Charles Rotimi4, Elaine Remmers4, Daniel Kastner4, Fredrick Wigley26, Francesco Boin27 and Pravitt Gourh28, 1National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 2Johns Hopkins Rheumatology, Baltimore, MD, 3Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, 4National Human Genome Research Institute, Bethesda, MD, 5University of Pittsburgh, Pittsburgh, PA, 6University of Pittsburgh School of Medicine, Pittsburgh, PA, 7Medical University of South Carolina, Charleston, SC, 8Georgetown University School of Medicine, Washington, DC, 9University of Michigan, Ann Arbor, MI, 10Rutgers-RWJ Medical School, South Plainfield, NJ, 11University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, 12Michigan Medicine, Ann Arbor, MI, 13Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, 14Hospital for Special Surgery, New York, NY, 15National Human Genome Research Institute, NIH, Bethesda, MD, 16Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, 17University of Pennsylvania, Philadelphia, PA, 18Columbia University, New York, NY, 19George Washington University, Great Falls, VA, 20Stanford University, Stanford, CA, 21UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, 22University of Chicago, Chicago, IL, 23Boston University School of Medicine, Boston, MA, 24NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, 25University of Rochester, Rochester, NY, 26Johns Hopkins University, Baltimore, MD, 27Cedars-Sinai Medical Center, Los Angeles, CA, 28National Institutes of Health, Bethesda, MD

    Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…
  • Abstract Number: 1851 • ACR Convergence 2022

    Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients

    Beibei Zu1, rongrong wang2, Xiaorou Wang3, Bingqing Zhang4, Na Xu4, Chengjin Huang4, Min Shen5 and Xuejun Zeng4, 1Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, 2Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, 3Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, 4Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, 5Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China

    Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
  • 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: 1136 • ACR Convergence 2022

    Stratification of Systemic Lupus Erythematosus (SLE) Patients Based on the Molecular Patterns of Mouse Models

    Maria Rivas Torrubia, Maria Morell, Marta Alarcon-Riquelme and Guillermo Barturen, Center for Genomics and Oncological Research (GENYO), Granada, Spain

    Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune, chronic and multisystemic autoimmune disorder, which typically affects women and presents high severity and mortality. It is…
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