Abstracts tagged "genomics"

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…
Abstract Number: 0659 • ACR Convergence 2020
Polynesian-Specific Gout-Associated Frameshift Variant in PRPSAP1
Megan Leask¹, Nicola Dalbeth², Lisa Stamp³, Tony Merriman⁴, Amanda Phipps-Green⁴, Ruth Topless⁴, James Boocock⁵, Hyon Choi⁶, Keresoma Leaupepe¹ and Eli Stahl⁷, ¹University of Otago, Dunedin, Otago, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago Christchurch, Christchurch, New Zealand, ⁴University of Otago, Dunedin, New Zealand, ⁵David Geffen School of Medicine at UCLA, Los Angeles, CA, ⁶Massachusetts General Hospital, Department of Medicine, Division of Rheumatology, Lexington, MA, ⁷Mt Sinai School of Medicine, New York, NY
Background/Purpose: Polynesian (NZ Māori and Pacific) populations have increased prevalence of gout. Hyperuricaemia is contributed to by increased urate production in the liver via the…
Abstract Number: 0661 • ACR Convergence 2020
Genomic Regions Jointly Associated with eGFR and Serum Urate: Implications for Shared Genetic Etiology of Hyperuricemia and Chronic Kidney Disease
Nick Sumpter¹, Alexa Lupi², Megan Leask³, Tony Merriman⁴, Ana Vazquez² and Richard Reynolds¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Michigan State University, East Lansing, MI, ³University of Otago, Dunedin, Otago, New Zealand, ⁴University of Otago, Dunedin, New Zealand
Background/Purpose: Gout and hyperuricemia (HU), serum urate (SU) > 6.8 mg/dL, often present in the context of chronic kidney disease. It has long been known…
Abstract Number: 0700 • ACR Convergence 2020
Lipoxin A4 Induces Lipid Class Switching and Inflammation Resolution at the Genomic Level in Human Osteoarthritis
Mandar Dave¹, Abul Islam², Akshat Parekh³, Jay Patel⁴, Arushi Chawla⁵ and Ashok Amin⁶, ¹Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, ²Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh, ³Rutgers Robert Wood Johnson Medical School, Piscataway, NJ, ⁴Northeast Ohio Medical University, Rootstown, OH, ⁵Gujarat Forensic Science University, Gujarat, India, ⁶Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, NY
Background/Purpose: Human OA-affected cartilage does not show the cardinal signs of inflammation (redness and swelling with heat and pain—rubor et tumor cum calore et dolor) because…
Abstract Number: 0839 • ACR Convergence 2020
Single-Cell Transcriptomics of Mouse and Human Lupus Nephritis Identifies Conserved Myeloid Populations Across Species
Paul Hoover¹, Michael Peters², David Lieb³, Rakesh Mishra⁴, Nir Hacohen² and Anne Davidson⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, ³Broad Institute, Boston, MA, ⁴Feinstein Institute, Manhasset, NY, ⁵Northwell Health, New York
Background/Purpose: We recently identified novel immune cell states in the kidneys of lupus nephritis patients (Arazi et al, Nature Immunology 2019). To determine the similarities…
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: 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: 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: 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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