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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