Abstracts tagged "genomics"

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: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner ¹, Elaine Remmers ², Miranda Marion ³, Marc Sudman ⁴, Colleen Satorius ⁵, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson ⁶, Michael Ombrello¹, Patricia Woo ⁷, Carl Langefeld ⁸, Sampath Prahalad ⁹ and Susan Thompson ¹⁰, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute, Bethesda, ³Wake Forest University, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁷London, United Kingdom, ⁸Winston Salem, ⁹Emory + Children's Pediatric Institute, Atlanta, ¹⁰Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati
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: 55 • 2019 ACR/ARP Annual Meeting
A Novel Subclass of Intravascular Non-classical, Tissue Resident Synovial Monocyte Is Critical for Rheumatoid Arthritis Pathogenesis
Anna Montgomery ¹, Shang-Yang Chen ¹, Deborah Winter ² and Harris Perlman², ¹Northwestern University, Chicago, ²Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago
Background/Purpose: There are at least three populations of circulating monocytes; classical, intermediate and non-classical. We demonstrated that circulating non-classical monocytes are required for the effector…
Abstract Number: 1018 • 2019 ACR/ARP Annual Meeting
Renal Single Cell Genomics Links Type II Interferon and Lupus Nephritis in African-Americans
Andrea Fava¹, Yuji Zhang ², Jill Buyon ³, Chaim Putterman ⁴, Nir Hacohen ⁵, Arnon Arazi ⁵, Celine Berthier ⁶, Deepak Rao ⁷, Michael Brenner ⁸, David Wofsy ⁹, Anne Davidson ¹⁰, Mathias Kretzler ¹¹, David Hildeman ¹², E. Steve Woodle ¹², Betty Diamond ¹⁰, Thomas Tuschl ¹³, Evan Der ¹⁴, Hemant Suryawanshi ¹³, H. Michael Belmont ¹⁵, Peter Izmirly ¹⁶, Robert Clancy ¹⁶, The Accelerating Medicines Partnership ¹⁷ and Michelle Petri ¹⁸, ¹Johns Hopkins University, Baltimore, ²University of Maryland, Baltimore, ³NYU School of Medicine, New York, ⁴Albert Einstein College of Medicine, New York, NY, ⁵Broad Institute, Cambridge, ⁶University of Michigan, Ann Arbor, MI, ⁷Brigham and Women's Hospital, Boston, MA, ⁸Brigham and Women’s Hospital:, Boston, ⁹UCSF, San Francisco, ¹⁰Feinstein Institutes for Medical Research, Manhasset, ¹¹University of Michigan, Ann Arbor, ¹²University of Cincinnati, Cincinnati, ¹³Rockefeller Research Laboratories, New York, ¹⁴Albert Einstein College of Medicine, New York, ¹⁵New York University School of Medicine, Ney York, ¹⁶New York University School of Medicine, New York, ¹⁷Multiple Organizations, USA, ¹⁸Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Compared to Caucasian, African-American ethnicity is associated with a higher risk of developing systemic lupus erythematosus, lupus nephritis, high-risk histological features, resistance to treatment,…
Abstract Number: 1039 • 2019 ACR/ARP Annual Meeting
Molecular Profiling Identifies Immunologic Subgroups and Informs Mechanism of Action of Baricitinib in SLE
Thomas Dörner¹, Yoshiya Tanaka ², Michelle Petri ³, Josef Smolen ⁴, Daniel Wallace ⁵, Ernst Dow ⁶, Damiano Fantini ⁶, Richard Higgs ⁶, Guilherme Rocha ⁶, Brenda Crowe ⁶, Robert Benschop ⁶, Adam Abel ⁶, Nicole Byers ⁶, Maria Silk ⁶, Stephanie de Bono ⁶ and Robert Hoffman ⁶, ¹Charite Universitätsmedizin Berlin and DRFZ, Berlin, Germany, ²University of Occupational and Environmental Health Japan, Kitakyushu, Japan, ³Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Medical University of Vienna, Vienna, Austria, ⁵Cedars-Sinai Medical Center/University California at Los Angeles, Los Angeles, CA, ⁶Eli Lilly and Company, Indianapolis, IN
Background/Purpose: Baricitinib is an oral selective Janus kinase (JAK) 1 and JAK2 inhibitor. In the Phase II, 24-week, randomized, placebo-controlled, double-blind study JAHH (NCT02708095), once-daily…
Abstract Number: 1041 • 2019 ACR/ARP Annual Meeting
Computational Methods for Drug Repositioning of Systemic Sclerosis Using Gene Fold-Change and Network Analyses
Dillon Popovich¹, Michael Whitfield ², Yue Wang ³, Guoshuai Cai ⁴ and Mengqi Huang ⁵, ¹Geisel School of Medicine at Dartmouth College, Hanover, ²Geisel School of Medicine at Dartmouth College, Biomedical Data Science at Dartmouth College, Hanover, ³Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Arnold school of Public Health, University of South Carolina, Columbia, SC, ⁵Geisel School of Medicine at Dartmouth College, Hanover, NH
Background/Purpose: Clinical trials with systemic sclerosis (SSc) patients have yet to lead to an FDA approved treatment. We have adopted a gene fold-change analysis called…
Abstract Number: 2012 • 2019 ACR/ARP Annual Meeting
A Composite IFN-Based Signature Is Associated with a Filgotinib-Specific Clinical Response in bDMARD-Experienced Rheumatoid Arthritis Patients
Peter Taylor¹, Bryan Downie ², Emon Elboudwarej ³, Rachael Hawtin ³, Amer M. Mirza ³ and Jinfeng Liu ³, ¹University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster Citty, CA, ³Gilead Sciences, Inc., Foster City, CA
Background/Purpose: Filgotinib (FIL), an oral, selective, Janus Kinase 1 (JAK1) inhibitor was effective in Phase 3 studies of active RA in patients (pts) with inadequate…
Abstract Number: 579 • 2018 ACR/ARHP Annual Meeting
Changes in DNA Methylation Identify Response to Treatment with Methotrexate and TNF Inhibitors Among RA Patients
Cameron Adams¹, Katie Marker¹, Melissa Krueger², Lisa Barcellos¹ and Lindsey A. Criswell³, ¹School of Public Health, UC Berkeley, Berkeley, CA, ²UC San Francisco, San Francisco,, CA, ³University of California San Francisco, San Francisco, CA
Background/Purpose: Epigenetic modifications including DNA methylation are implicated in the development and progression of autoimmune diseases, such as rheumatoid arthritis [MIM 180300]. Evidence indicates that…

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