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: 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…

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