Abstracts tagged "Gene Expression"

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…
Abstract Number: 1526 • ACR Convergence 2020
Single Cell Analysis of Skin and Blood of Scleroderma Patients Towards Identification of New Disease Mechanisms, Prognostic Biomarkers and Potential Therapeutic Targets
Chamutal Gur¹, Postil 158626², Hagit Peleg³, Suhail Aamar³, Fadi Kharouf³, Anat Elazary³, Yolanda Braun-Moscovici Braun-Moscovici⁴, Shuang-Yin Wang⁵ and Ido Amit⁵, ¹Hadassah Medical Center, Hebrew University, Laboratory for Immuno-Genomics, Weizmann Institute of Science, Jerusalem, Israel, ²Rambam Health Care Campus, Technion-Israeli Institute of Technology, Kiriat Mozkin, HaZafon, Israel, ³Hadassah Medical Center, Jerusalem, Israel, ⁴Rambam Health Care Campus, Technion-Israeli Institute of Technology, Haifa, Israel, ⁵Laboratory for Immuno-Genomics, Weizmann Institute of Science, Rehovot, Israel
Background/Purpose: Systemic sclerosis (SSc) is characterized by fibrosis, microangiopathy and immune dysregulation. Despite many years of research, the pathogenesis of SSc is poorly understood; there…
Abstract Number: 0707 • ACR Convergence 2020
Contribution of NOTUM and Glypicans to the Development of Osteoarthritis
Arkaitz Mucientes¹, Eva Herranz¹, Pia Lois², Gloria Candelas², Lydia Abasolo¹, Luis Rodriguez-Rodriguez¹, Jose Ramon Lamas¹ and Benjamin Fernandez-Gutierrez³, ¹IdISSC, Madrid, Madrid, Spain, ²Hospital Clínico San Carlos, Madrid, Madrid, Spain, ³Hospital Clínico San Carlos / IdISSC, Madrid, Madrid, Spain
Background/Purpose: Osteoarthritis (OA) is a degenerative disease characterized by altered homeostasis of joint cartilage and bone, the functionality of which relies on chondrocytes and osteoblasts,…
Abstract Number: 1529 • ACR Convergence 2020
Differentially Expressed Chemokines and Cytokines in Peripheral Blood Mononuclear Cells (PBMCs) of Rheumatoid Arthritis (RA) Patients
Noha Elemam¹, Mahmood Hachim², Suad Hannawi³ and Azzam Maghazachi⁴, ¹University of Sharjah, Sharjah, United Arab Emirates, ²Mohammed Bin Rashid University Of Medicine and Health Sciences, Dubai, ³Ministry of Health and Prevention, Dubai, United Arab Emirates, ⁴University of Sharjah, Sharjah
Background/Purpose: Rheumatoid arthritis (RA) is the most prevalent autoimmune disease, where various immune cells are associated such as monocytes, natural killer (NK) cells, B cells,…
Abstract Number: 1866 • 2019 ACR/ARP Annual Meeting
Gene Expression Meta-Analysis Reveals Commonalities in Gene Activation and Enrichment of Immune Pathways and Cell Types in Dermatomyositis Target Tissues
Jessica Neely¹, Dmitry Rychkov ¹, Manish Paranjpe ¹, Michael Waterfield ², Susan Kim ¹ and Marina Sirota ², ¹University of California, San Francisco, San Francisco, CA, ²University of California, San Francisco, San Francisco
Background/Purpose: Dermatomyositis (DM) is a complex immune-mediated disease resulting in muscle and skin inflammation. Prior studies of gene expression in DM have revealed a type…
Abstract Number: 1903 • 2019 ACR/ARP Annual Meeting
BTK Overexpression Is Associated with the Risk of Lymphoma in Primary Sjögren’s Syndrome: Data from Whole Blood Transcriptome of 346 Patients Followed-up Prospectively for 10 Years
Pierre-Marie Duret¹, Tao Ye ², Wan-Fai Ng ³, Alain Saraux ⁴, Valérie Devauchelle Pensec ⁵, Raphaele Seror ⁶, Veronique Le-Guern ⁷, Claire Larroche ⁸, Aleth Perdriger ⁹, Jean Sibilia ¹⁰, Jessica Tarn ¹¹, Gaetane Nocturne ¹², Xavier Mariette ¹³ and Jacques-Eric Gottenberg ¹⁴, ¹Hôpitaux civils de Colmar, COLMAR CEDEX, France, ²GenomEAST platform / Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, Institut de Génétique et de Biologie Moléculaire, IGBMC, Strasbourg, France, ³Musculoskeletal Research Group Institute of Cellular Medicine Faculty of Medical Sciences Newcastle University, Newcastle, United Kingdom, ⁴CHU de la Cavale-Blanche Brest, Brest, France, ⁵University Hospital of Brest, Brest, France, ⁶Hopitaux universitaires Paris Sud, Kremlin-Bicetre, France, ⁷Department of Internal Medicine, Referral Center for Rare Autoimmune and Systemic Diseases, Hôpital Cochin, AP-HP, Université Paris Descartes, Paris, France,, Paris, France, ⁸Internal Medicine, Paris, France, Paris, France, ⁹Rheumatology department, Rennes University Hospital, France, Rennes, France, ¹⁰CHU Strasbourg, Strasbourg, France, ¹¹Institute of Cellular Medicine Newcastle University, Newcastle, United Kingdom, ¹²Center for Immunology of Viral Infections and Autoimmune Diseases, Assistance Publique – Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, Université Paris Sud, INSERM, Paris, France., Paris, France, ¹³Center for Immunology of Viral Infections and Autoimmune Diseases, Assistance Publique – Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, Université Paris Sud, INSERM, Paris, France, ¹⁴Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France
Background/Purpose: To identify a molecular signature associated with lymphomagenesis in primary Sjögren’s Syndrome (pSS).Methods: Whole peripheral blood samples were collected from 346 well-phenotyped pSS patients…
Abstract Number: 2504 • 2019 ACR/ARP Annual Meeting
Differential Expression of Human Endogenous Retroviruses in Psoriatic Disease
Remy Pollock¹, Rohan Machhar ¹, Laila Zaman ¹, Dafna Gladman ² and Vinod Chandran ³, ¹Krembil Research Institute, University Health Network, Toronto, Canada, ²Toronto Western Hospital, Toronto, Canada, Toronto, ON, Canada, ³University Health Network, University of Toronto, Toronto, Canada
Background/Purpose: Human endogenous retroviruses (HERV) are the stably inherited remnants of ancient retroviruses that infected the ancestral germline. A growing body of research has associated…
Abstract Number: 2558 • 2019 ACR/ARP Annual Meeting
Profiling of Gene Expression, Immune Cell Subtypes, and Circulating Protein Biomarkers in Systemic Lupus Erythematosus Patients Treated with the Selective Immunoproteasome Inhibitor, KZR-616
R Andrea Fan¹, Janet Anderl ¹, Brian Tuch ², Darrin Bomba ¹, Niti Goel ³ and Christopher Kirk ¹, ¹Kezar Life Sciences, South San Francisco, CA, ²Kezar Life Sciences, south san francisco, ³Kezar Life Sciences, Duke University School of Medicine, South San Francisco, CA
Background/Purpose: KZR-616 is a selective inhibitor of the immunoproteasome, the form of proteasome found predominantly in immune cells. In nonclinical studies, KZR-616 blocks acute production…
Abstract Number: 2898 • 2019 ACR/ARP Annual Meeting
Evaluation of the Transcriptome of Non-Lesional, Non-Sun Exposed Skin in Patients with Lupus Nephritis
Hemant Suryawanshi¹, Robert Clancy ², Evan Der ³, Peter Izmirly ², H Michael Belmont ⁴, Chaim Putterman ⁵, Jill Buyon ² and Thomas Tuschl ¹, ¹Rockefeller Research Laboratories, New York, ²NYU School of Medicine, New York, ³Albert Einstein College of Medicine, New York, ⁴NYU Langone Health, New York, NY, ⁵Albert Einstein College of Medicine, New York, NY
Background/Purpose: The impact of renal injury in lupus nephritis (LN) is widespread with consequences to resident cells in other tissue beds, even non-lesional, non-sun exposed…
Abstract Number: 45 • 2019 ACR/ARP Annual Meeting
bDMARD-experienced Filgotinib-treated Patient Samples Exhibit a Partial Reversion to the Peripheral Molecular Profile of a Demographically Matched Healthy Population
Peter Taylor¹, Emon Elboudwarej ², Bryan Downie ³, Lene Vestergaard ², Jinfeng Liu ², Amer M. Mirza ² and Rachael Hawtin ², ¹University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster City, CA, ³Gilead Sciences, Inc., Foster Citty, 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: 49 • 2019 ACR/ARP Annual Meeting
Towards a Single Cell Portrait of Rheumatoid Arthritis – Development of a Single Cell Multiomics Pipeline for Phase 2 of the Accelerating Medicine Partnership (AMP) – RA Network
Kevin Wei¹, Anna Helena Jonsson ¹, Fan Zhang ², Aparna Nathan ³, Joseph Mears ², Gerald Watts ², Zhu Zhu ², ilya Korsunsky ², Laura Donlin ⁴, Deepak Rao ², Andrew Filer ⁵, Accelerating Medicine Partnership (AMP) ⁶, Brendan Boyce ⁷, Ellen Gravallese ⁸, V. Michael Holers ⁹, Larry Moreland ¹⁰, Peter Gregersen ¹¹, Vivian Bykerk ¹², Jennifer Anolik ⁷, Soumya Raychaudhuri ² and Michael Brenner ¹³, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Harvard Medical School, Boston, MA, ⁴Hospital For Special Surgery, New York, NY, ⁵Institute of Inflammation and Ageing College of Medical and Dental Sciences University of Birmingham, Birmingham, United Kingdom, ⁶Brigham and Women's Hospital, Boston, ⁷University of Rochester Medical Center, Rochester, NY, ⁸University of Massachusetts Medical School, Worcester, MA, ⁹University of Colorado Denver, Division of Rheumatology, Aurora, CO, USA, Denver, ¹⁰University of Pittsburgh, PITTSBURGH, PA, ¹¹Feinstein Institutes for Medical Research, Manhasset, NY, ¹²Hospital for Special Surgery, New York City, NY, ¹³Brigham and Women’s Hospital:, Boston
Background/Purpose: The goal of the Accelerating Medicines Partnership (AMP) program is to study synovial tissue from individuals with rheumatoid arthritis (RA) using high-dimensional analyses. During…
Abstract Number: 976 • 2019 ACR/ARP Annual Meeting
Identification of Novel Genes Associated with Dysregulation of B Cells in Patients with Primary Sjögren’s Syndrome
Jun Inamo¹, Katsuya Suzuki ², Masaru Takeshita ², Yoshiaki Kassai ³, Maiko Takigchi ⁴, Rina Kurisu ⁴, Yuumi Okuzono ⁴, Shinya Tasaki ⁵ and Tsutomu Takeuchi ⁶, ¹Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Tokyo, Japan, ²Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan, ³Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Tokyo, Japan, ⁴Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁵Integrated Technology Research Laboratories, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁶Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Dysregulation of B cells play a critical role in the pathogenesis of primary Sjögren’s syndrome (pSS). Long non-coding RNAs (lncRNAs), which have become the…

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