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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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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