ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 0945 • ACR Convergence 2021

    A Single-cell Atlas of Human Synovial Endothelial Cells in Inflammatory Arthritis

    Sam Edalat1, Reto Gerber2, Miranda Houtman1, Raphael Micheroli3, Kristina Buerki1, Nadja Izanc1, Blaz Burja4, Tadeja Kuret5, Snežna Sodin-Šemrl5, Adrian Ciurea3, Oliver Distler3, Caroline Ospelt1, Chantal Pauli6, Mark Robinson7 and Mojca Frank-Bertoncelj3, 1Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, 2Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland, 3Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich/University of Zurich, Zurich, Switzerland, 4Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Rheumatology, University Medical Centre Ljubljana, Zurich, Switzerland, 5Department of Rheumatology, University Medical Centre Ljubljana, Ljubljana, Slovenia, 6Department of Pathology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, 7Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland

    Background/Purpose: Dysregulated endothelial cell (EC) function and altered (lympho)angiogenesis crucially contribute to synovial pathology in inflammatory arthritis. Additionally, endothelium plays a key role in the…
  • Abstract Number: 0973 • ACR Convergence 2021

    Modeling of Clinical Phenotypes in SLE Based on Platelet Transcriptomic Analysis and FCGR2a Biallelic Variants

    MacIntosh Cornwell1, Hanane EL Bannoudi2, Elliot Luttrell-Williams1, Khrystyna Myndzar1, Alexis Engel3, Peter Izmirly4, H. Michael Belmont5, Robert Clancy6, Jeffrey Berger1, Kelly Ruggles1 and Jill Buyon6, 1New York University, New York, NY, 2NYU Langone Health, New York, NY, 3NYU Langone Health, New Yok, NY, 4New York University School of Medicine, New York, NY, 5NYU School of Medicine, New York, NY, 6NYU Grossman School of Medicine, New York, NY

    Background/Purpose: The clinical heterogeneity of SLE with its complex pathogenesis remains challenging as we strive to provide optimal management. The contribution of platelets to endovascular…
  • Abstract Number: 0936 • ACR Convergence 2020

    Urine Proteomics and Single Cell Transcriptomics Identify IL-16 as a Biomarker for Lupus Nephritis

    Andrea Fava1, Jill Buyon2, Chandra Mohan3, Ting Zhang3, H. Michael Belmont4, Peter Izmirly5, Robert Clancy6, Jose Monroy-Trujillo7, Celine Berthier8, Anne Davidson9, Nir Hacohen10, David Wofsy11, Deepak Rao12, Soumya Raychaudhuri13, The Accelerating Medicines Partnership in SLE Network14, William Apruzzese15 and Michelle Petri16, 1Johns Hopkins University, Baltimore, MD, 2Department of Medicine, NYU School of Medicine, New York, NY, 3UT Houston, Houston, 4New York University, New York, NY, 5Department of Medicine, New York University School of Medicine, New York, NY, 6NYU School of Medicine, New York, 7Johns Hopkins University, Baltimore, 8University of Michigan, Ann Arbor, 9Northwell Health, New York, 10Broad Institute, Boston, 11University of California San Francisco, San Francisco, CA, 12Brigham and Women's Hospital, Boston, MA, 13Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, 14Multiple Institutions, Multiple Cities, 15., Boston, 16Johns Hopkins University School of Medicine, Timonium, MD

    Background/Purpose: Treatment of lupus nephritis relies on renal histopathological features. However, renal biopsies do not capture patient-specific active biological pathways. Urine proteomic biomarkers could revolutionize…
  • Abstract Number: 0979 • ACR Convergence 2020

    The Identification of Shared and Unique Myeloid Cell States in Pre- and Post-nephritic Lupus Mouse Models, Sle.Yaa1 and NZBW

    Paul Hoover1, Michael Peters2, David Lieb3, Heather Geiger4, Rakesh Mishra5, Nir Hacohen2 and Anne Davidson6, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Boston, 3Broad Institute, Boston, MA, 4New York Genome Center, New York, NY, 5Feinstein Institute, Manhasset, NY, 6Northwell Health, New York

    Background/Purpose:Poor renal prognosis in lupus nephritis (LN) is associated with an abundance of renal macrophages and dendritic cells (DCs) but the role of these cells…
  • Abstract Number: 1443 • ACR Convergence 2020

    High-dimensional Analyses of Checkpoint-inhibitor Related Arthritis Synovial Fluid Cells Reveal a Unique, Proliferating CD38hi Cytotoxic CD8 T Cell Population Induced by Type I IFN

    Runci Wang1, Karmela Kim Chan2, Amy Cunningham-Bussel1, Gregory Vitone3, Aidan Tirpack2, Caroline Benson2, Gregory Keras4, Anna Helena Jonsson5, Michael Brenner5, Laura Donlin6, Anne Bass7 and Deepak Rao1, 1Brigham and Women's Hospital, Boston, MA, 2Hospital For Special Surgery, New York, NY, 3Hospital for Special Surgery, New York, 4Brigham and Women’s Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, 5Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Hospital for Special Surgery, Weill Cornell Medicine, New York, 7Hospital for Special Surgery/Weill Cornell Medicine, New York, NY

    Background/Purpose: Checkpoint inhibitors (CI) used to treat cancer frequently trigger immune-related adverse events, including inflammatory arthritis. CI-related arthritis (CIrA) occurs in ~5% of treated patients,…
  • Abstract Number: 1452 • ACR Convergence 2020

    Transcriptomic Meta-analysis Reveals a Core Transcriptional Program in Murine B Cell Anergy and Implicates Immunometabolic Regulation as a Central Pathway in Maintaining Non-responsiveness of Autoreactive B-cells in Both Mouse and Man

    Isaac Harley1, Bergren Crute2, Andrew Getahun2 and John Cambier3, 1University of Colorado Anschutz Medical Campus, Aurora, CO, 2University of Colorado – Anschutz Medical Campus, Aurora, 3Univ, Aurora

    Background/Purpose: The mechanisms self-tolerance loss that lead to autoantibody-mediated autoimmune disease remain underdefined. The rapid reversibility of peripheral B-cell tolerance in murine models suggests that…
  • Abstract Number: 1787 • ACR Convergence 2020

    Differences in Chromatin Architecture Between Treatment Naïve Pediatric and Adult Lupus Patients

    Joyce Hui-Yuen1, Frank Jenkins2, Kaiyu Jiang3, Susan Malkiel4, Betty Diamond4 and James Jarvis5, 1Northwell LIJ Health System, Manhasset, NY, 2Northwell Health, Manhasset, 3University at Buffalo, Buffalo, NY, 4Northwell Health, Manhasset, NY, 5University at Buffalo Jacobs School of Medicine, Buffalo, NY

    Background/Purpose: Systemic lupus erythematosus (SLE) is possibly triggered by gene-environment interactions. We showed most of the SLE haplotypes encompass genomic regions enriched for epigenetic marks…
  • Abstract Number: 0027 • ACR Convergence 2020

    CYP2D6 Genotype and Reduced Codeine Analgesic Effect in Real-World Clinical Practice

    Daniel Carranza Leon1, Alyson Dickson2, Andrea Gaedigk3, C. Michael Stein2 and Cecilia Chung2, 1Vanderbilt University Medical Center, Nashville, TN, 2Vanderbilt University Medical Center, Nashville, 3University of Missouri, Kansas City

    Background/Purpose: Codeine, a widely prescribed analgesic, is an inactive pro-drug that is metabolized to morphine, the active drug, by cytochrome P450 2D6 (CYP2D6), a highly…
  • Abstract Number: 1815 • ACR Convergence 2020

    Dynamic Changes in Microbiota Representation of a Gut Pathobiont and Clinical Disease Activity in Patients with Lupus Nephritis

    Doua Azzouz1, Ze Chen2, Zhi Li3, Peter Izmirly4, Jing Deng1, David Fenyo3, Jill Buyon1, Alexander Alekseyenko5 and Gregg Silverman6, 1Department of Medicine, NYU School of Medicine, New York, NY, 2Department of Microbiology, NYU School of Medicine, New York, NY, 3Institute for Systems Genetics, NYU School of Medicine, New York, NY, 4Department of Medicine, New York University School of Medicine, New York, NY, 5Medical University of South Carolina, Charleston, SC, 6Laboratory of B cell immunobiology, Department of Medicine, NYU School of Medicine, New York, NY

    Background/Purpose: From a cross-sectional cohort, we have recently identified a candidate human gut pathobiont, Ruminococcus gnavus (RG) of the Lachnospiraceae family and Blautia genus that…
  • Abstract Number: 0036 • ACR Convergence 2020

    Molecular Phenotyping of Late-Stage Knee Osteoarthritis Synovium Through Total RNA-Sequencing

    Anusha Ratneswaran1, Chiara Pastrello1, Pratibha Potla2, Osvaldo Espin-Garcia2, Starlee Lively2, Anthony Perruccio3, Raj Rampersaud2, Rajiv Gandhi2 and Mohit Kapoor4, 1University Health Network, Toronto, ON, Canada, 2Krembil RI, Toronto, Canada, 3Krembil Research Institute, UHN; University of Toronto, Toronto, ON, Canada, 4Krembil RI, Toronto, ON, Canada

    Background/Purpose: Knee Osteoarthritis (OA) is a painful, disabling condition and molecular mechanisms underlying this disease are poorly understood. In recent years, OA is increasingly viewed…
  • Abstract Number: 1860 • ACR Convergence 2020

    An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology

    Sara Rahmati1, Quan Li1, Dafna Gladman2, Proton Rahman3 and Vinod Chandran2, 1University Health Network, Toronto, ON, Canada, 2Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, 3Memorial University of Newfoundland, Department of Medicine, St John's, Canada

    Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
  • Abstract Number: 0072 • ACR Convergence 2020

    Characterizing Heterogeneity of Synovial Macrophages in Rheumatoid Arthritis Patients

    Shang-Yang Chen1, Yidan Wang2, Anna Montgomery2, Salina Dominguez2, Carla Cuda2, Gaurav Gadhvi1, Harris Perlman2 and Deborah Winter3, 1Northwestern University, Chicago, IL, 2Northwestern University, Chicago, 3Northwestern University Division of Rheumatology, Chicago, IL

    Background/Purpose: Macrophages in the synovial lining of the joint are critical players in the pathogenesis of rheumatoid arthritis (RA). While they are potent producers of…
  • Abstract Number: 1933 • ACR Convergence 2020

    Small Vessel Vasculitis Surrounding a Preserved Temporal Artery: Search for Tissue Biomarkers with Potential Diagnostic Value

    Georgina Espígol-Frigolé1, Roser Alba-Rovira2, Salvador Naranjo-Suárez3, Magda Terenas4, Sergio Prieto-González1, Marc Corbera-Bellalta3, Javier Marco-Hernández4, Marco A. Alba1, Farah Kamberovic3, Roberto Ríos-Garcés1, Jose Hernández-Rodríguez1 and Maria C. Cid1, 1Vasculitis Research Unit, Department of Systemic Autoimmune Diseases, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain., Barcelona, Catalonia, Spain, 2Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, IRB-CELLEX. Institut d’Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), Barcelona, Spain, Barcelona, 3IDIBAPS, Barcelona, Spain, 4Hospital Clinic Barcelona, Barcelona, Spain

    Background/Purpose: Systemic vasculitides are complex and heterogeneous diseases with overlapping features that frequently pose a diagnostic challenge to clinicians. The temporal artery biopsy (TAB) is…
  • Abstract Number: 0174 • ACR Convergence 2020

    Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis

    Emily Shuldiner1, Elaine Remmers2, Miranda Marion3, Marc Sudman4, Colleen Satorius5, Patricia Woo6, Sampath Prahalad7, Carl Langefeld8, Susan Thompson9, Wendy Thomson10 and Michael Ombrello11, 1NIAMS, NIH, Bethesda, 2National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, 3Wake Forest School of Medicine, Winston-Salem, 4Cincinnati Children's Hospital Medical Center, Cincinnati, 5NHGRI, NIH, Bethesda, 6Great Ormond Street Hospital, London, United Kingdom, 7Emory + Children's Pediatric Institute, Atlanta, GA, 8Wake Forest School of Medicine, Winston Salem, NC, 9Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, 10Centre for Genetics and Genomics Versus Arthritis, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 11Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
  • Abstract Number: 1957 • ACR Convergence 2020

    A Single Cell Stromal Atlas Identifies Conserved Fibroblast Phenotypes Expanded in the Inflamed Synovium, Lung, Intestine, and Salivary Gland

    Ilya Korsunsky1, Kevin Wei2, Mathilde Pohin3, Edy Kim4, Jason Turner5, Saba Nayar6, Benjamin Fisher7, Karim Raza8, Matthias Friedrich9, Jennifer Marshall5, Adam Croft5, Mark Coles10, Andreas Frei11, Andrew Filer12, Francesca Barone5, Kara Lassen11, Fiona Powrie10, Christopher Buckley13, Michael Brenner2 and Soumya Raychaudhuri14, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 3Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Oxford, United Kingdom, 4Brigham and Women’s Hospital, Division of Pulmonary and Critical Care Medicine, Boston, MA, 5Rheumatology Research Group, Institute for Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Queen Elizabeth Hospital, Birmingham, United Kingdom, 6Institute for Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, 7University Hospitals Birmingham NHS Foundation Trust-Birmingham, Birmingham, United Kingdom, 8Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, United Kingdom, 9Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, University of Oxford, Oxford, United Kingdom, 10Kennedy Institute of Rheumatology, University of Oxford, Oxford, United Kingdom, 11Roche Pharma Research and Early Development, Immunology, Infectious Diseases and Ophthalmology (I2O) Discovery and Translational Area, Roche Innovation Center Basel, Basel, Switzerland, 12Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, 13University of Birmingham, Birmingham, United Kingdom, 14Brigham and Women’s Hospital and Harvard Medical School, Boston, MA

    Background/Purpose: Pro-inflammatory fibroblasts have been independently implicated in the pathogenesis of rheumatoid arthritis (RA), inflammatory bowel disease (IBD), interstitial lung disease (ILD), and Sjogren’s syndrome…
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