Abstracts tagged "Bioinformatics"

Abstract Number: 1607 • ACR Convergence 2022
Machine Learning Identifies Biomarker of Non-Response to Methotrexate in Rheumatoid Arthritis
Vincent Bouget¹, Julien Duquesne¹, Paul-Henry Cournède², Bruno Fautrel³, Francis Guillemin⁴, Pascal de Jong⁵, Judith Heutz⁶, Marloes Verstappen⁷, Annette van der Helm-van Mil⁸, Xavier Mariette⁹ and Samuel Bitoun¹⁰, ¹Scienta Lab, Paris, France, ²Paris-Saclay University - CentraleSupelec, Paris, France, ³Sorbonne University Paris, France and Pierre Louis Institute of Epidemiology and Public Health, Paris, France, Paris, France, ⁴Université de Lorraine, APEMAC, Vandoeuvre-les-nancy, France, ⁵ErasmusMC, Hendrik Ido Ambacht, Netherlands, ⁶Erasmus Medical Center, Rotterdam, Netherlands, ⁷Leiden University Medical Center, Leiden, Netherlands, ⁸Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands, ⁹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹⁰Paris-Saclay University, Paris, France
Background/Purpose: Methotrexate (MTX) is the first line treatment for rheumatoid arthritis (RA). Unfortunately, 30% to 40% of RA patients do not respond to MTX with…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
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: 1625 • ACR Convergence 2022
Single Cell and Spatial Transcriptomics Identifies Pathogenic Drivers of Sjogren’s Disease in Humans
Blake Warner¹, Thomas Pranzatelli², Paola Perez², Daniel Martin², Shyh-Ing Jang², Kalie Dominick², Eiko Yamada², Kevin Byrd³, Quinn Easter⁴, A. Darise Farris⁵, Christopher Lessard⁵, Amanda Oliver⁶, Raquel Bartolome-Casado⁶, Zohreh Khavandgar¹, Sarthak Gupta⁷, Sarah Teichmann⁶, Alan Baer⁸ and John Chiorini², ¹National Institutes of Health, Bethesda, MD, ²NIDCR, Bethesda, MD, ³American Dental Association, Scientific Research Institute, Gaithersburg, MD, ⁴American Dental Association, Gaithersburg, MD, ⁵Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶Wellcome Sanger Institute, Cambridgeshire, United Kingdom, ⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁸Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Sjogren's Disease(SjD) is a systemic autoimmune disease characterized by exocrine dysfunction. The pathogenesis is incompletely understood, but involves gene-environment interactions leading to infiltration of…
Abstract Number: 0565 • ACR Convergence 2022
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissues Using Single-cell Computational Omics
Juan Vargas¹, Nirmal Banda², Ian Mantel³, Anna Jonsson⁴, Kevin Wei⁵, Deepak Rao⁴, Susan Goodman⁶, Kevin D Deane⁷, Jennifer Seifert⁸, Jennifer Anolik⁹, Michael Brenner¹⁰, Soumya Raychaudhuri⁴, Accelerating Medicines Partnership RA/SLE⁴, Michael Holers², Laura Donlin⁶ and Fan Zhang⁸, ¹School Public Health Biostatistics Department, Aurora, CO, ²Department of Medicine Division of Rheumatology, Aurora, CO, ³Weill Cornell Medicine, New York, NY, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Hospital for Special Surgery, New York, NY, ⁷University of Colorado Denver Anschutz Medical Campus, Denver, CO, ⁸University of Colorado, Aurora, CO, ⁹University of Rochester Medical Center, Rochester, NY, ¹⁰Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in experimental models of autoimmune arthritis pathogenesis. In patients…
Abstract Number: 1125 • ACR Convergence 2022
Genomics of JAK-STAT Signaling in Venous Thromboembolism
Stine R Haysen, Ane Langkilde-Lauesen Nielsen, Per Qvist and Tue Kragstrup, Aarhus University, Aarhus, Denmark
Background/Purpose: Janus kinase inhibitors (JAKi) have been associated with an increased risk of venous thromboembolism (VTE). This concern limits the use of JAKi-based therapy. Hence,…
Abstract Number: 1680 • ACR Convergence 2022
Module Signatures of Synovial Single-cell States Identify Disease Phenotypes in Early Treatment-naive Rheumatoid Arthritis
Felice Rivellese¹, Elena Pontarini², Cankut Cubuk¹, Alessandra Nerviani¹, Liliane Fossati-Jimack¹, Anna Surace¹, Elisabetta Sciacca³, Katriona Goldmann¹, Michele Bombardieri⁴, Myles Lewis¹ and Costantino Pitzalis¹, ¹Queen Mary University of London, London, United Kingdom, ²William Harvey Research Institute, London, United Kingdom, ³Queen Mary University of London, Biancavilla, Italy, ⁴Experimental Medicine and Rheumatology, William Harvey Research Institute, Queen Mary University, London, United Kingdom
Background/Purpose: Despite extensive studies, the relationship between circulating and local immune cells and clinico-pathological features of Immune-Mediated Inflammatory Diseases remains unclear. Recently, synovium-specific cell states…
Abstract Number: 0633 • ACR Convergence 2022
Identification of Systemic Lupus Erythematosus Endotypes by Analysis of Inflammatory and Immunologic Gene Expression Signatures
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Yisha He¹, Michelle Catalina³, Amrie Grammer⁴ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA, ³AMPEL BioSolutions, Harvard, MA, ⁴AMPEL LLC, Charlottesville, VA
Background/Purpose: One of the hallmarks of SLE is clinical and molecular heterogeneity. Recent work has leveraged next-generation sequencing techniques to identify molecular signatures characteristic of…
Abstract Number: 1136 • ACR Convergence 2022
Stratification of Systemic Lupus Erythematosus (SLE) Patients Based on the Molecular Patterns of Mouse Models
Maria Rivas Torrubia, Maria Morell, Marta Alarcon-Riquelme and Guillermo Barturen, Center for Genomics and Oncological Research (GENYO), Granada, Spain
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune, chronic and multisystemic autoimmune disorder, which typically affects women and presents high severity and mortality. It is…
Abstract Number: 1687 • ACR Convergence 2022
A Core Inflammation Program Conserved Across Human and Murine Neutrophils
Nicolaj hackert¹, Felix Radtke¹, Tarik Exner¹, Carsten Müller-Tidow¹, Hanns-Martin Lorenz¹, Peter Nigrovic², Guido Wabnitz¹ and Ricardo Grieshaber-Bouyer¹, ¹Heidelberg University Hospital, Heidelberg, Germany, ²Boston Children's Hospital, Boston, MA
Background/Purpose: Neutrophils mediate a range of homeostatic and inflammatory processes and display substantial phenotypic and functional heterogeneity. While animal models enable important mechanistic discoveries, differences…
Abstract Number: 0640 • ACR Convergence 2022
Immune Cell Heterogeneity in Lupus Nephritis Kidneys and Its Relation to Histopathological Features
Arnon Arazi¹, Joseph Mears², Thomas Eisenhaure³, Qian Xiao⁴, Paul Hoover⁴, Deepak Rao⁴, Celine Berthier⁵, Andrea Fava⁶, Siddarth Gurajala⁴, Michael Peters³, Tony Jones³, William Apruzzese⁴, Jennifer Barnas⁷, Richard Furie⁸, Anne Davidson⁹, David Hildeman¹⁰, Judith James¹¹, Joel Guthridge¹¹, Maria Dall'Era¹², David Wofsy¹³, Peter Izmirly¹⁴, H Michael Belmont¹⁵, Robert Clancy¹⁴, Diane Kamen¹⁶, Chaim Putterman¹⁷, Thomas Tuschl¹⁸, Maureen McMahon¹⁹, Jennifer Grossman¹⁹, Kenneth Kalunian²⁰, Michael Weisman²¹, Matthias Kretzler⁵, Michael Brenner²², Jennifer Anolik²³, Michelle Petri²⁴, Jill Buyon¹⁴, Soumya Raychaudhuri⁴, Nir Hacohen³, Betty Diamond⁹ and the Accelerating Medicines Partnership RA/SLE Network³, ¹Feinstein Institutes for Medical Research, Melrose, MA, ²Michigan University, Ann Arbor, MI, ³Broad Institute, Cambridge, MA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵University of Michigan, Ann Arbor, MI, ⁶Johns Hopkins University, Baltimore, MD, ⁷University of Rochester, Rochester, NY, ⁸Northwell Health, Great Neck, NY, ⁹Feinstein Institutes for Medical Research, Manhasset, NY, ¹⁰Cincinnati Children's Hospital, Cincinnati, OH, ¹¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹²University of California, Division of Rheumatology, San Francisco, CA, ¹³University of California San Francisco, SF, CA, ¹⁴NYU Grossman School of Medicine, New York, NY, ¹⁵NYU School of Medicine, New York, NY, ¹⁶Medical University of South Carolina, Charleston, SC, ¹⁷Albert Einstein College of Medicine, Bronx, NY, ¹⁸Rockefeller University, New York, NY, ¹⁹University of California Los Angeles, Los Angeles, CA, ²⁰University of California San Diego, La Jolla, CA, ²¹Adjunct Professor of Medicine, Stanford University; Distinguished Professor of Medicine Emeritus, David Geffen School of Medicine at UCLA, Los Angeles, CA, ²²Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²³University of Rochester Medical Center, Rochester, NY, ²⁴Johns Hopkins University School of Medicine, Division of Rheumatology, Baltimore, MD
Background/Purpose: Lupus nephritis (LN) is characterized by considerable variability in its clinical manifestations and histopathological findings. Understanding the cellular and molecular mechanisms underlying this heterogeneity…
Abstract Number: 1138 • ACR Convergence 2022
Whole-Blood DNA Methylation Analysis Reveals Respiratory Environmental Traits Involved in COVID-19 Severity Following SARS-CoV-2 Infection and Common Molecular Signatures with Autoimmune Diseases
Guillermo Barturen¹, Elena Carnero-Montoro¹, Manuel Martinez-Bueno¹, Silvia Rojo-Rello², Beatriz Sobrino³, Clara Alcántara-Domínguez⁴, David Bernardo⁵ and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²Hospital Clínico Universitario, Valladolid, Spain, ³Hospital Regional de Málaga, Málaga, Spain, ⁴Lorgen G.P., SL, Granada, Spain, ⁵Universidad de Valladolid-CSIC, Valladolid, Spain
Background/Purpose: SARS-CoV-2 causes a severe inflammatory syndrome (COVID-19) leading, in many cases, to bilateral pneumonia, severe dyspnea and in ~5% of these, death. DNA methylation…
Abstract Number: 1734 • ACR Convergence 2022
Identification of Sjögren’s Disease-Associated T Cell Receptors Through Deep Sequencing and Single-Cell Transcriptomics
Ananth Aditya Jupudi¹, Michelle Joachims¹, Christina Lawrence¹, Charmaine Lopez-Davis¹, Bhuwan Khatri¹, Astrid Rasmussen¹, Lida Radfar², Kiely Grundahl¹, R. Hal Scofield², Judith James¹, Joel Guthridge¹, Christopher Lessard¹, Linda F. Thompson¹ and A. Darise Farris¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Oklahoma Health Sciences Center, Oklahoma City, OK
Background/Purpose: Sjögren's disease (SjD) is a chronic rheumatic autoimmune disorder that primarily targets the lacrimal and salivary glands (SG) resulting in dry eyes and dry…
Abstract Number: 0645 • ACR Convergence 2022
Lupus Fibroblasts from Non-lesional Skin Exhibit Exaggerated Responses to Inflammatory Cytokines and Upregulate Pro-fibrotic Collagens in Patients with Scarring Lesions
Suzanne Shoffner-Beck, Lisa Abernathy-Close, Stephanie Lazar, Amy Hurst, Craig Dobry, Deepika Pandian, Rachael Wasikowski, Kelly Arnold, Johann Gudjonsson, Lam Tsoi and J. Michelle Kahlenberg, University of Michigan, Ann Arbor, MI
Background/Purpose: Cutaneous lupus erythematosus (CLE) is a manifestation of systemic lupus erythematosus (SLE) that can cause significant patient distress and disfiguration secondary to scar. Scarring…
Abstract Number: 1139 • ACR Convergence 2022
Molecular Pathways Identified from Risk Alleles Identify Mechanistic Differences in Systemic Lupus Erythematosus Patients of East Asian and European Ancestry
Katherine Owen¹, Kristy Bell², Andrew Price³, Prathyusha Bachali⁴, Hannah Ainsworth⁵, Miranda Marion⁶, Timothy Howard⁵, Carl Langefeld⁷, Nan Shen⁸, Jinoos Yazdany⁹, Maria Dall'Era¹⁰, Amrie Grammer¹¹ and Peter Lipsky³, ¹RILITE, Crozet, VA, ²AMPEL BioSolutions LLC, Charlottesville, VA, ³AMPEL BioSolutions, Charlottesville, VA, ⁴AMPEL BioSolutions, Redmond, WA, ⁵Wake Forest School of Medicine, Winston-Salem, NC, ⁶Wake Forest University, Winston-Salem, NC, ⁷Wake Forest School of Medicine, Winston Salem, NC, ⁸Shanghai Jiang Tong University School of Medicine, Shanghai, China, ⁹UCSF, San Francisco, CA, ¹⁰University of California, Division of Rheumatology, San Francisco, CA, ¹¹AMPEL LLC, Charlottesville, VA
Background/Purpose: SLE is a multi-organ autoimmune disorder with a prominent genetic component. Individuals of Asian-Ancestry (AsA) disproportionately experience more severe SLE compared to individuals of…

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