Abstracts tagged "genomics"

Abstract Number: 1435 • ACR Convergence 2021
Identification of Distinct Fibroblast Populations in Systemic Sclerosis 3D Skin Tissues with Single Cell Omics
Noelle Kosarek¹, Heetaek Yang², Fred W. Kolling³, Tamar Abel⁴, Mengqi Huang⁵, Avi Smith⁶, Jonathan Garlick⁶, Patricia A. Pioli² and Michael L. Whitfield⁷, ¹Dartmouth Geisel School of Medicine, Hartford, VT, ²Geisel School of Medicine, Hanover, NH, ³Centers for Quantitative Biology, Hanover, ⁴Geisel School of Medicine, West Lebanon, NH, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶Tufts University School of Dental Medicine, Boston, MA, ⁷Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by skin and internal organ fibrosis, vascular abnormalities, and autoantibody formation. Single cell genomics studies…
Abstract Number: 1512 • ACR Convergence 2021
Epigenetic and Transcriptional Programs of CD4+ T Cell Anergy
Philip Titcombe, Milagros Silva Morales and Daniel Mueller, University of Minnesota, Minneapolis, MN
Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…
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…
Abstract Number: 0175 • ACR Convergence 2020
Identifying Immuno-phenotypes in Juvenile Localized Scleroderma with RNA Sequencing
Christina Schutt¹, Emily Mirizio², Kaila Schollaert-Fitch², Claudia Salgado³, Miguel Reyes-Mugica³ and Kathryn Torok², ¹University of Pittsburgh Medical Center, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Pittsburgh Medical Center, Pittsburgh
Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease of the skin and underlying tissue characterized by an early inflammatory infiltrate followed by fibrosis and…
Abstract Number: 1969 • ACR Convergence 2020
The Dynamics of Macrophage Sub-Populations in the Inflammatory Phase Following Joint Trauma
Samuel Hamilton¹, Anna Montgomery¹, Niamh Fahy², Maximilian Mayr¹, Shang-Yang Chen¹, Gaurav Gadhvi¹, Yvonne Bastiaansen-Jenniskens² and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Erasmus MC, Rotterdam, Netherlands, ³Northwestern University Division of Rheumatology, Chicago, IL
Background/Purpose: Macrophages fulfill critical functions in maintaining tissue homeostasis in steady-state, as well as in inflammation and immune response. In the joint synovium, we have…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 0495 • ACR Convergence 2020
Epstein Barr Virus (EBV), an Etiologic Factor for Systemic Lupus Erythematosus (SLE), Interacts with SLE Risk Loci Through EBV-encoded Transcription Co-factors (co-TFs)
Viktoryia Laurynenka¹, Xiaoting Chen¹, Sreeja Parameswaran¹, Shruti Eswar², Kenneth Kaufman³, Bahram Namjou⁴, Matthew Weirauch⁵, Leah Kottyan⁴ and John Harley⁶, ¹Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children’s Hospital Medical Center, Cincinnati, ³Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, Cincinnati, OH, ⁵Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁶Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH
Background/Purpose: SLE affects millions worldwide. The etiology of this complex autoimmune disease is the consequence of both strong genetic and environmental components. Genome-wide association studies…

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