Abstracts tagged "Gene Expression"

Abstract Number: 0037 • ACR Convergence 2020
Lipoprotein-associated Phospholipase A2: A New Biomarker for Lymphoma Development in Sjögren’s Syndrome
Adrianos Nezos¹, Eleni Kotsifaki¹, Charalampos Skarlis², Konstantinos Markakis¹, Haralampos Moutsopoulos³, Michael Koutsilieris¹, Clio Mavragani¹ and Anna Psarrou¹, ¹National & Kapodistrian University of Athens, Athens, Greece, ²National &Kapodistrian University of Athens, Athens, Greece, ³National & Kapodistrian University of Athens/ Academy of Athens, Athens, Greece
Background/Purpose: B-cell non-Hodgkin's lymphoma (B-NHL) is one of the major complications of primary Sjögren’s syndrome (SS). Chronic inflammation and macrophages in SS minor salivary glands…
Abstract Number: 1212 • ACR Convergence 2020
Whole Blood Transcriptional Changes Following Selective Inhibition of Janus Kinase 1 (JAK1) by Filgotinib in MTX-Naïve Adults with Moderately-to-Severely Active Rheumatoid Arthritis (RA)
Peter Taylor¹, Bryan Downie², Emon Elboudwarej², Sam Kim², Angie Hertz², Amer Mirza², Jeff Siegel³, Rachael Hawtin² and Jinfeng Liu², ¹Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster City, ³Gilead Sciences, Inc., Foster City, CA
Background/Purpose: Filgotinib (FIL), a selective, oral JAK1 inhibitor, has shown efficacy and safety in phase 3 studies in adults with moderately-to-severely active RA. Previously, we…
Abstract Number: 2007 • ACR Convergence 2020
Whole Blood Transcriptional Changes Following Selective Inhibition of Janus Kinase 1 (JAK1) by Filgotinib in Adults with Moderately-to-Severely Active Rheumatoid Arthritis with Prior Inadequate Response to Methotrexate
Peter Taylor¹, Bryan Downie², Emon Elboudwarej², Sam Kim², Angie Hertz², Amer Mirza², Jeff Siegel³, Rachael Hawtin² and Jinfeng Liu², ¹Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster City, ³Gilead Sciences, Inc., Foster City, CA
Background/Purpose: Filgotinib (FIL), a selective, oral JAK1 inhibitor, has shown efficacy and safety in phase 3 studies in adults with moderately-to-severely active rheumatoid arthritis (RA).…
Abstract Number: 0040 • ACR Convergence 2020
Whole Blood RNA Expression in Clinically Suspected Arthralgia Patients Shows a Potential Value in Prediction of Inflammatory Arthritis
Ellis Niemantsverdriet¹, Erik van den Akker¹, Debbie Boeters¹, Susan van den Eeden¹, Annemieke Geluk¹ and Annette van der Helm - van Mil², ¹Leiden University Medical Center, Leiden, Netherlands, ²Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands
Background/Purpose: Rheumatoid arthritis (RA)-patients have differently expressed genes involved in cytokine/chemokine-mediated immunity compared to healthy controls, which are changed years before RA-diagnosis. It is unclear,…
Abstract Number: 1225 • ACR Convergence 2020
Targeting to IL-6 or Specific JAKs for RA Treatment: Seeking a Rationale for Switching Each Other If One of These Treatments Resulted in Lack of Efficacy
Yoshinobu Koyama¹, Yoshiharu Sato², Hiroshi Iijima², Moe Sakamoto³ and Toshie Higuchi³, ¹Okayama Red Cross Hospital, Japanese Red Cross Society, Okayama, Japan, ²DNA Chip Research Inc, Tokyo, Japan, ³Division of Rheumatology, Okayama Red Cross Hospital, Japanese Red Cross Society, Okayama, Japan
Background/Purpose: Inhibition of IL-6 signaling is one of the most established strategies for RA treatment. Tocilizumab (TCZ) is the pioneer which blocks IL-6 signaling by…
Abstract Number: 2033 • ACR Convergence 2020
Large-scale Examination of Longitudinal Skin Gene Expression and Its Associations with Skin Thickness in Systemic Sclerosis
Brian Skaug¹, Marka Lyons¹, William Swindell², Gloria Salazar¹, Julio Charles¹, Connor Vershel¹, Maureen Mayes³ and Shervin Assassi³, ¹University of Texas Houston, McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX, ²The Jewish Hospital, Department of Internal Medicine, Cincinnati, OH, ³University of Texas Houston McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX
Background/Purpose: Numerous studies have revealed dysregulated gene expression in the skin of systemic sclerosis (SSc) patients, with varying degrees of inflammatory/immune and fibroblast upregulation. However,…
Abstract Number: 0068 • ACR Convergence 2020
Single Cell RNA-seq to Characterize Monocyte Subtypes in the Autoinflammatory Interferonopathy, SAVI and the Inflammasomopathy, NOMID
Ying Zhang¹, Bernadette Marrero², Adriana de Jesus³, Sara Alehashemi⁴, Jinguo Chen⁵, Rongye Shi⁶, Huizhi Zhou⁶, Clifton Dalgard⁷, Manfred Boehm⁸ and Raphaela Goldbach-Mansky⁹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Computational Systems Biology Section/NIAID/NIH, Bethesda, MD, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁵Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, MD, ⁶Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, ⁷Department of Anatomy, Physiology and Genetics, Uniformed Services University of Health Sciences, Bethesda, ⁸Center for Molecular Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ⁹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Monocytes are pivotal producers of key inflammatory cytokines that drive autoinflammatory diseases. In SAVI, constitutive STING activation causes chronic activation with increased type-I IFN…
Abstract Number: 1448 • ACR Convergence 2020
Single-cell RNA Sequencing of Livedo Reticularis Skin Reveals Endothelial Pathology in Antiphospholipid Syndrome
Hui Shi¹, Allison Billi¹, Rachael Wasikowski¹, Kelsey Gockman¹, Alex Tsoi¹, Johann Gudjonsson² and Jason Knight³, ¹University of Michigan, Ann Arbor, ²University of Michigan, Ann ArborUniversity of Michigan, ³Division of Rheumatology, University of Michigan, Ann Arbor, MI
Background/Purpose: Antiphospholipid syndrome (APS) is a thromboinflammatory disease that can present with a variety of clinical phenotypes. Livedo reticularis is the most common skin manifestation…
Abstract Number: 0173 • ACR Convergence 2020
mTORC1 Signaling Promotes Monocytosis and Arthritis Development in IL-1 Receptor Antagonist-deficient Mice
Zhengping Huang¹, Ying Li², Alexandra Wactor³, Peter Nigrovic⁴ and Pui Lee⁵, ¹1.Guangdong Second Provincial General Hospital;2.Brigham and Women's Hospital;3.Harvard Medical School, BOSTON, MA, ²1.Brandeis University;2.Brigham and Women's Hospital, Waltham, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston, ⁵1.Boston Children's Hospital;2.Brigham and Women's Hospital;3.Harvard Medical School, Newton, MA
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is potentially life-threatening disease characterized by prolonged fever, systemic inflammation and skin rash in addition to joint inflammation. Aberrant…
Abstract Number: 1450 • ACR Convergence 2020
Integrative Analysis of DNA Methylation and Gene Expression in Monocytes from Primary Antiphospholipid Syndrome Patients Identifies a Gene Expression Signature Associated with Their Atherothrombotic Phenotype
Carlos Pérez-Sánchez¹, M Angeles Aguirre², Alejandra Maria Patiño-Trives¹, Laura Pérez-Sanchez³, Maria Luque-Tevar¹, Iván Arias de la Rosa¹, María-Carmen Abalos-Aguilera¹, Pedro Segui⁴, Javier Rodriguez-Ubreva⁵, Esteban Ballestar⁵, Nuria Barbarroja¹, Eduardo Collantes-Estévez² and Chary Lopez-Pedrera¹, ¹Rheumatology Department, Reina Sofia University Hospital/ Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ University of Cordoba, Cordoba, Spain, Cordoba, Spain, ²Rheumatology Department, Reina Sofia University Hospital/ Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ University of Cordoba, Cordoba, Spain, Córdoba, Spain, ³Hospital Universitario Reina Sofía, Córdoba, Spain, ⁴IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, ⁵Josep Carreras Institute (IJC), Badalona, Spain
Background/Purpose: 1. To develop integrated analyses of the genome-wide DNA methylation and gene expression profiles in monocytes from APS patients and assess their involvement in…
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: 1506 • ACR Convergence 2020
Correction of Sjögren’s Syndrome Fluid Secretion Deficits in Salivary Gland Acinar Cells by Aquaporin-1 Gene Transfer
Paola Perez¹, Blake Warner², Sandra Wainer¹, Youngmi Ji¹, Thomas Pranzatelli¹ and Jay Chiorini¹, ¹Nidcr, National Institute of Health, Bethesda, MD, ²National Institute of Dental and Craniofacial Research, Bethesda
Background/Purpose: The hallmark clinical complaints in Sjögren’s syndrome (SS) are dry mouth and dry eyes related to salivary and lacrimal glands dysfunction. Reduced salivation reflects…
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: 1525 • ACR Convergence 2020
Intergenic HLA Variants in African American Patients with Systemic Sclerosis Regulate Expression of HLA-DRB1
Urvashi Kaundal¹, Julia Hartman², Chloe Borden², Janet Wang³, Ami Shah⁴, Maureen Mayes⁵, Ayo Doumatey⁶, Amy Bentley⁷, Daniel Shriner⁶, Robyn Domsic⁸, Thomas Medsger⁹, Paula Ramos¹⁰, Richard Silver¹¹, Virginia Steen¹², John Varga¹³, Vivien Hsu¹⁴, Lesley Ann Saketkoo¹⁵, Elena Schiopu¹⁶, Dinesh Khanna¹⁷, Jessica Gordon¹⁸, Lindsey Criswell¹⁹, Heather Gladue²⁰, Chris Derk²¹, Elana Bernstein²², S. Louis Bridges²³, Victoria Shanmugam²⁴, Kathleen Kolstad²⁵, Lorinda Chung²⁶, Suzanne Kafaja²⁷, Reem Jan²⁸, Marcin Trojanowski²⁹, Avram Goldberg³⁰, Benjamin Korman³¹, Monique Hinchcliff³², Settara Chandrasekharappa⁶, Massimo Gadina², Davide Randazzo², Stefania Dell'Orso², Adebowale Adeyemo⁶, Charles Rotimi⁶, Elaine Remmers⁶, Fredrick Wigley³³, Rafael Casellas², Daniel Kastner⁶, Francesco Boin³⁴ and Pravitt Gourh¹, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Beachwood, OH, ⁴Johns Hopkins University School of Medicine, Ellicott City, MD, ⁵University of Texas Houston McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX, ⁶National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, ⁷National Human Genome Research Institute (NHGRI), NIH, Bethedsa, MD, ⁸University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁹University of Pittsburgh School of Medicine, Verona, PA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Medical University of South Carolina, Charleston, ¹²Division of Rheumatology, Department of Medicine, MedStar Georgetown University Hospital, Washington, DC, ¹³Northwestern University, Chicago, IL, ¹⁴Rutgers-RWJ Medical School, South Plainfield, NJ, ¹⁵Scleroderma Patient Care and Research Center, Tulane University, New Orleans, LA, ¹⁶Michigan Medicine, Ann Arbor, MI, ¹⁷University of Michigan, Ann Arbor, MI, ¹⁸Hospital for Special Surgery, New York, NY, ¹⁹Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA, ²⁰Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²¹University of Pennsylvania, Philadelphia, PA, ²²Columbia University, New York, NY, ²³University of Alabama at Birmingham, Mountain Brk, AL, ²⁴The George Washington University, Washington, DC, ²⁵Division of Immunology & Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ²⁶Stanford University School of Medicine and Palo Alto VA Health Care System, Palo Alto, CA, ²⁷David Geffen School of Medicine, UCLA, Los Angeles, CA, ²⁸Pritzker School of Medicine, University of Chicago, Chicago, IL, ²⁹Boston University Medical Center, BOSTON, MA, ³⁰NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ³¹Department of Medicine, University of Rochester Medical Center, Rochester, NY, ³²Yale School of Medicine, Westport, CT, ³³Johns Hopkins University School of Medicine, Baltimore, MD, ³⁴University of California San Francisco, Cedars-Sinai, West Hollywood, CA
Background/Purpose: Genome-wide association study (GWAS) from the Genome Research in African American Scleroderma Patients (GRASP) cohort has identified the human leukocyte antigen (HLA) region as…
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…

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