Abstracts tagged "Gene Expression"

Abstract Number: 1736 • ACR Convergence 2022
IL-23 Signaling Induces Autoimmune Disease Genes in Mucosal-Associated Invariant T Cells
Tharshana Stephen¹, Ambre Dangien¹, Claire Leloup¹, Ikram Mezghiche¹, Laetitia Camard¹, Hanan Yahia-Cherbal¹, Vincent Guillemot², Natalia Pietrosemoli¹, Hélène Lopez-Maestre¹, Julie Marsande¹, Milena Hasan¹, Dan Cua³, Anne Fourie⁴, Carrie Greving⁵, Raphaelle Parker⁶, Barbara Joyce Shaikh⁷, Bénédicte Oulès⁸, Sarah Guégan⁸, Sélim Aractingi⁸, Elisabetta Bianchi¹ and Lars Rogge¹, ¹Institut Pasteur, Paris, France, ²Institut Pasteur, Paris, Ile-de-France, France, ³Janssen Research and Development, LLC, Spring House, PA, ⁴Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, CA, ⁵Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, ⁶Janssen Research & Development, Janssen-Cilag, Paris, France, ⁷Janssen Research & Development, LLC, San Diego, CA, ⁸Hôpital Cochin, AP-HP, Paris, France
Background/Purpose: Genome-wide association studies and mouse models of autoimmune disease have demonstrated an important role of the IL-23 signaling pathway in the pathogenesis of axial…
Abstract Number: 0547 • ACR Convergence 2022
Profiling of Systemic Immune Responses in Axial Spondyloarthritis Patients Reveals Strikingly Distinct Cellular and Molecular Mechanisms of Action of IL-17A Inhibitors and TNF-Blockers
Nicolas Rosine¹, Surya Koturan¹, Vincent Guillemot², Claire Leloup¹, Fanni Veress¹, Tharshana Stephen¹, Hanan Yahia-Cherbal¹, Jérémie SELLAM³, Francis Berenbaum⁴, Natalia Pietrosemoli¹, Elisabetta Bianchi¹, Corinne MIceli⁵ and Lars Rogge¹, ¹Institut Pasteur, Paris, France, ²Institut Pasteur, Paris, Ile-de-France, France, ³Sorbonne Universite, AP-HP, Saint-Antoine hospital, Paris, France, ⁴Sorbonne University - Saint-Antoine hospital, Paris, France, ⁵APHP, Paris, France
Background/Purpose: IL-17A inhibitors (IL-17i) and TNF-inhibitors (TNFi) are currently the only biologic drugs available to treat axial spondyloarthritis (axSpA). While several studies have provided mechanistic…
Abstract Number: 1120 • ACR Convergence 2022
Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues
Marcin Radziszewski¹, Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, R. Hal Scofield³, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Umesh Deshmukh¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
Abstract Number: 1738 • ACR Convergence 2022
Characterization of T Cell Subsets in the Synovium of Chronic Inflammatory Joint Diseases
Alexandra Khmelevskaya¹, Miranda Houtman², Kristina Buerki³, Chantal Pauli⁴, Sam Edalat³, Mojca Frank-Bertoncelj³, Oliver Distler⁵, Adrian Ciurea⁶, Caroline Ospelt⁷ and Raphael Micheroli⁸, ¹Center of Experimental Rheumatology, University Hospital of Zurich, Zürich, Switzerland, ²University of Zurich, Schlieren, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, Zürich, Switzerland, ⁴Department of Pathology, University Hospital Zurich, Zürich, Switzerland, ⁵Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ⁶University Hospital Zurich, Zürich, Switzerland, ⁷Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ⁸University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland
Background/Purpose: Rheumatoid arthritis (RA), psoriatic arthritis (PsA), peripheral spondyloarthritis (pSpA), and undifferentiated arthritis (UA) are chronic immune-mediated conditions characterized by joint inflammation. The specific role…
Abstract Number: 0588 • ACR Convergence 2022
S-nitrosoglutathione Reductase (GSNOR) Regulates Osteoclast Differentiation
Toshihiro Tanioka¹, Kohei Maeda¹, Rei Takahashi¹ and Takeo Isozaki², ¹Division of Pathogenesis and Translational Medicine, Department of Clinical Pharmacy, Showa University School of Pharmacy, Tokyo, Japan, ²Division of Rheumatology, Department of Medicine, Showa University School of Medicine, Tokyo, Japan
Background/Purpose: S-nitrosoglutathione (GSNO) reductase (GSNOR) is an enzyme which decomposes GSNO and downregulates protein S-nitrosylation. It has been reported that GSNOR KO mice have enhanced…
Abstract Number: 1126 • ACR Convergence 2022
Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis
Urvashi Kaundal¹, Emilee Stenson¹, Mousumi Sahu¹, Krishan Kumar Thakur¹, Janet Wang¹, Ami Shah², Maureen Mayes³, Ayo Doumatey⁴, Amy Bentley⁴, Daniel Shriner⁴, Robyn Domsic⁵, Thomas Medsger⁶, Paula Ramos⁷, Richard Silver⁷, Virginia Steen⁸, John Varga⁹, Vivien Hsu¹⁰, Lesley Ann Saketkoo¹¹, Elena Schiopu¹², Dinesh Khanna¹³, Jessica Gordon¹⁴, Lindsey Criswell¹⁵, Heather Gladue¹⁶, Chris Derk¹⁷, Elana Bernstein¹⁸, S. Louis Bridges, Jr.¹⁴, Victoria Shanmugam¹⁹, Lorinda Chung²⁰, Suzanne Kafaja²¹, Reem Jan²², Marcin Trojanowski²³, Avram Goldberg²⁴, Benjamin Korman²⁵, Jim Mullikin⁴, Stefania Dell'Orso¹, Adebowale Adeyemo⁴, Charles Rotimi⁴, Elaine Remmers⁴, Daniel Kastner⁴, Fredrick Wigley²⁶, Francesco Boin²⁷ and Pravitt Gourh²⁸, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Johns Hopkins Rheumatology, Baltimore, MD, ³Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁷Medical University of South Carolina, Charleston, SC, ⁸Georgetown University School of Medicine, Washington, DC, ⁹University of Michigan, Ann Arbor, MI, ¹⁰Rutgers-RWJ Medical School, South Plainfield, NJ, ¹¹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹²Michigan Medicine, Ann Arbor, MI, ¹³Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁴Hospital for Special Surgery, New York, NY, ¹⁵National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁶Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁷University of Pennsylvania, Philadelphia, PA, ¹⁸Columbia University, New York, NY, ¹⁹George Washington University, Great Falls, VA, ²⁰Stanford University, Stanford, CA, ²¹UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²²University of Chicago, Chicago, IL, ²³Boston University School of Medicine, Boston, MA, ²⁴NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁵University of Rochester, Rochester, NY, ²⁶Johns Hopkins University, Baltimore, MD, ²⁷Cedars-Sinai Medical Center, Los Angeles, CA, ²⁸National Institutes of Health, Bethesda, MD
Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…
Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 0351 • ACR Convergence 2021
Gene Signature Fingerprints Divide SLE Patients in Subgroups with Similar Biological Disease Profiles: A Multicenter Longitudinal Study
Javad Wahadat¹, Dieneke Schonenberg-Meinema², Cornelia van Helden-Meeuwsen¹, Sander van Tilburg¹, Noortje Groot³, Ellen Schatorjé⁴, Esther Hoppenreijs⁴, Petra Hissink Muller⁵, Danielle Brinkman⁶, Denis Dvorak⁷, Marleen Verkaaik³, Katerina Bouchalova⁸, Merlijn van den Berg², Sylvia Kamphuis⁹ and Marjan Versnel¹, ¹Erasmus University Medical Center, Rotterdam, Netherlands, ²Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands, ³Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, Netherlands, ⁴Amalia Children's Hospital, Nijmegen, Netherlands, ⁵Willem Alexander Children’s Hospital, Leiden University Medical Center, Leiden, Netherlands, ⁶Willem Alexander Children’s Hospital, Leiden University Medical Center, Leiderdorp, Netherlands, ⁷Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital, Olomouc, Czech Republic, ⁸Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czech Republic, ⁹Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, Netherlands
Background/Purpose: Clinical phenotyping and predicting treatment responses in Systemic Lupus Erythematosus (SLE) patients is challenging. Extensive blood transcriptional profiling has identified various gene modules that…
Abstract Number: 1935 • ACR Convergence 2021
Skewed Escape from X-inactivation: Insights into the Female Bias of Sjögren’s Syndrome
Teressa Shaw¹, Wei Zhang², Sara McCoy³, Xueer Qiu¹, Adam Pagenkopf¹, Robert Hal Scofield⁴, Jacques Galipeau³ and Yun Liang¹, ¹University of Wisconsin-Madison, Madison, WI, ²University of California San Diego, La Jolla, CA, ³University of Wisconsin, Madison, WI, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Many autoimmune diseases feature increased prevalence in females, with primary Sjögren's syndrome (pSS) being the most female-predominant autoimmune disease with a female-to-male ratio of…
Abstract Number: 0502 • ACR Convergence 2021
Global Transcriptomic Profiling Identifies Differential Gene Expression Signatures Between Inflammatory and Non-inflammatory Aortic Aneurysms
Benjamin Hur¹, Matthew Koster¹, Jin Sung Jang¹, Kenneth Warrington² and Jaeyun Sung¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Rochester, Minnesota
Background/Purpose: Non-infectious aortitis may be a manifestation of systemic large vessel vasculitis such as giant cell arteritis (GCA) or may be a form of single…
Abstract Number: 0518 • ACR Convergence 2021
Predicted Expression of Genes Involved in the Thiopurine Metabolic Pathway Is Associated with Azathioprine Discontinuation Due to Bone Marrow Toxicity
Laura Daniel¹, Alyson Dickson², Jacy Zanussi², Tyne Miller-Fleming², Peter Straub², Wei-Qi Wei², Dale Plummer², William Dupont³, Ge Liu², Prathima Anandi², Tyler Reese², Kelly Birdwell², Vivian Kawai⁴, Adriana Hung², Nancy J. Cox², Qiping Feng², C. Michael Stein² and Cecilia Chung², ¹Vanderbilt University Medical Center, Pegram, TN, ²Vanderbilt University Medical Center, Nashville, TN, ³Vanderbilt University, Nashville, TN, ⁴Vanderbilt Universty Medical Center, Nashville, TN
Background/Purpose: Azathioprine is a thiopurine used to treat inflammatory conditions; however, it is often discontinued due to dose-dependent bone marrow toxicity. The Pharmacogenomics Knowledgebase (PharmGKB)…
Abstract Number: 0521 • ACR Convergence 2021
Genome-Wide DNA Methylation and Gene Expression Signatures in Classical Monocytes from African Ancestry Patients with Systemic Sclerosis
Sarah Smith¹, Peter Allen², Robert Wilson¹, Jena Wirth¹, DeAnna Baker Frost¹, Gary Gilkeson¹, Melissa Cunningham¹, Devin Absher³ and Paula Ramos¹, ¹Medical University of South Carolina, Charleston, SC, ²University of Alabama at Birmingham, Birmingham, AL, ³HudsonAlpha Institute for Biotechnology, Huntsville, AL
Background/Purpose: Systemic sclerosis (SSc) is a multisystem autoimmune disorder that has an unclear etiology and disproportionately affects individuals of African ancestry (AA). Despite this, AA…
Abstract Number: 0879 • ACR Convergence 2021
Anti-dsDNA Antibodies Increase Systemic Lupus Erythematosus Cardiovascular Risk Impairing the Immune and Cardiovascular Systems
Carlos Pérez-Sánchez¹, Alejandra Patiño-Trives², Maria Angeles Aguirre³, Laura Perez-Sanchez³, Chary Lopez-Pedrera³, Maria Luque-Tevar², Maria del Carmen Ábalos-Aguilera³, Iván Arias de la Rosa⁴, Cristobal Román-Rodriguez³, Pedro Segui³, Mario Espinosa³, Pilar Font³, Nuria Barbarroja⁴, alejandro Escudero³, Eduardo Collantes-Estevez³, Jose Antonio Gonzalez-Reyes⁵, Jose Manuel Villalba⁵ and Chary lopez-pedrera³, ¹IMIBIC, Córdoba, Spain, ²Rheumatology Department, Reina Sofia University Hospital/ Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ University of Cordoba, Cordoba, Spain, ³IMIBIC/Reina Sofia Hospital/University of Córdoba, Córdoba, Spain, ⁴University of Cordoba/IMIBIC/Reina Sofia Hospital, Cordoba, Spain, ⁵Department of Cell Biology, Physiology and Immunology, University of Córdoba, Campus de Excelencia Internacional Agroalimentario, ceiA3, Cordoba, Spain
Background/Purpose: This study aimed to delineate the role of anti-dsDNA antibodies on the alterations observed in the gene profile and the activity of immune and…
Abstract Number: 1000 • ACR Convergence 2021
Molecular Mechanism of Inhibition of CD38 in Attenuation of Monosodium Urate Crystal-induced Inflammatory Responses in Macrophages
Huaping Qin¹, Patricia Oliveira¹, Tiffany Yan¹, Robert Terkeltaub² and Ru Liu Bryan³, ¹University of California San Diego, La Jolla, CA, ²VA/UCSD, San Diego, CA, ³University of California San Diego and VASDHS, San Diego, CA
Background/Purpose: CD38 can function as a degrading enzyme of nicotinamide adenine dinucleotide (NAD), a critical metabolic intermediate serving as enzyme cofactor in redox reactions and…
Abstract Number: 1013 • ACR Convergence 2021
SARS-CoV-2 Antibody Phenotype and Immune Gene Expression in Multi-system Inflammatory Syndrome in Children
Kate Webb¹, Thandeka Moyo-Gwete², Simon Mendelsohn³, Claire Butters⁴, Simone Richardson⁵, Heidi Facey-Thomas⁴, Debbie Abrahams⁴, Mashudu Madzivhandila⁵, Zanele Makhado⁵, Frances Ayres⁵, William Horsnell⁶, Neilia Manamela⁵, Richard Baguma³, Stanley Kimbung Mbandi³, Mzwandile Erasmus³, Thomas Scriba³, Liesl Zühlke⁷, Penny Moore⁵, George Kassiotis⁸ and Christiaan Scott⁴, ¹Paediatric Rheumatology University of Cape Town/ Francis Crick Institute, Cape Town, South Africa, ²National Institute of Communicable Diseases/University of Witwatersrand, Johannesburg, South Africa, ³South African TB vaccine initiative, IIDM, University of Cape Town, Cape Town, South Africa, ⁴Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, ⁵National Institute of Communicable Diseases/University of Witwatersrand, Cape Town, South Africa, ⁶University of Cape Town, Cape Town, South Africa, ⁷Paediatric Cardiology, University of Cape Town, Cape Town, South Africa, ⁸Retroviral Immunology, Francis Crick Institute, London, United Kingdom
Background/Purpose: Multi-system Inflammatory Syndrome in Children (MIS-C) is a severe disease that affects a small proportion of children exposed to Severe Acute Respiratory Syndrome Coronavirus…

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