Abstracts tagged "Epigenetics"

Abstract Number: 1155 • ACR Convergence 2022
Epigenome-Wide Integrative Association Study on Spondyloarthritis and Psoriatic Arthritis
Elena Carnero-Montoro¹, Ivan Arias-de la Rosa², Clementina Lopez-Medina³, lourdes Ladehesa-Pineda⁴, Rafaela Ortega-Castro², Daniel Toro-Domínguez¹, Manuel Martinez-Bueno¹, Raúl López-Domínguez⁵, Olivia Castellini-Pérez¹, Guillermo Barturen¹, Nuria Barbarroja², Eduardo Collantes² and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, Spain, ³Reina Sofia University Hospital, Rheumatology Department, Jaén, Spain, ⁴Reina Sofia University Hospital/Rheumatology Department/Maimonides Institute for Biomedical Research (IMIBIC), Cordoba, Spain, ⁵University of Granada, Granada, Spain
Background/Purpose: An important role of DNA methylation changes in Spondylitis Ankylosing has been recently demonstrated by epigenome-wide studies. However, there is a lack of genome-wide…
Abstract Number: 0397 • ACR Convergence 2022
Aberrant Global DNA Methylation in Peripheral Blood Cell Subpopulations of Patients with Axial Spondyloarthritis
ERIC TOUSSIROT¹, Sebastien Pasquereau², Charline Vauchy³, Daniel Wendling⁴, Jean Charles Balblanc⁵, caroline Laheurte⁶, Marc Puyraveau⁷ and Georges Herbein², ¹CHU de Besançon, Besançon, France, ²EA EPILAB, Besancon, Besançon, France, ³INSERM CIC-1431, Besancon, Besançon, France, ⁴CHU, University Teaching Hospital, Besançon, France, ⁵Rhumatologie, Hopital Nord Franche Comté, Trevenans, France, ⁶EFS Bourgogne Franche Comté, Biomonotoring Plateform, Besançon, France, ⁷INSERM CIC-1431 CHU, Besançon, France
Background/Purpose: Axial spondyloarthritis (axSpA) corresponds to a group of chronic inflammatory diseases mainly affecting the axial skeleton. TNFa and IL-17A have been identified as key…
Abstract Number: 1173 • ACR Convergence 2022
Single-cell Multi-omic Analysis of a 3D Skin-Like Tissue Model Provides Insights into Molecular and Cellular Drivers of Systemic Sclerosis
Tamar Abel¹, Noelle Kosarek², Rezvan Parvizi³, Helen Jarnagin¹, Mengqi Huang⁴, Avi Smith⁵, Michael Mariani¹, Dillon Popovich⁶, Heetaek Yang⁷, Tammara Wood⁸, Jonathan Garlick⁹, Patricia Pioli⁷ and Michael Whitfield¹⁰, ¹Dartmouth College, Lebanon, NH, ²Dartmouth Geisel School of Medicine, Lebanon, NH, ³Dartmouth, Lebanon, NH, ⁴University of Pittsburgh, Pittsburgh, PN, ⁵Tufts University, Boston, MA, ⁶Dartmouth College, West Lebanon, NH, ⁷Geisel School of Medicine at Dartmouth, Lebanon, NH, ⁸Dartmouth College, Hanover, NH, ⁹Tufts University School of Dental Medicine, Boston, MA, ¹⁰Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic Sclerosis (SSc) currently lacks reliable in vitro models of skin fibrosis constructed from all human cells. We have developed a skin-like tissue model of systemic…
Abstract Number: 0531 • ACR Convergence 2022
Development and Performance of a Diagnostic Precision Biomarker for Seronegative Rheumatoid Arthritis Based on DNA Methylation in Blood
Espen Riskedal¹, Karl Trygve Kalleberg¹, Arne Søraas², Maria Dahl Mjaavatten³, Grethe-Elisabeth Stenvik⁴, Joe Sexton⁴, Janis Neumann¹, Cathrine Lund Hadley¹, Guro Goll⁴, Silje Watterdal Syversen⁴, Håkon Bøås⁵, Jennifer Ruth Harris⁵, Astanand Jugessur⁵, Siri Lillegraven⁴ and Espen Haavardsholm⁴, ¹Age Labs AS, Oslo, Oslo, Norway, ²Age Labs AS, Eiksmarka, Norway, ³Diakonhjemmet Hospital, Haslum, Norway, ⁴Diakonhjemmet Hospital, Oslo, Norway, ⁵Norwegian Institute of Public Health, Oslo, Norway
Background/Purpose: Patients with seronegative rheumatoid arthritis (RA) exhibit no detectable antibodies, often resulting in delayed diagnosis and treatment initiation. A blood-based test, capable of detecting…
Abstract Number: 1175 • ACR Convergence 2022
Epigenetic Regulation of MicroRNA-126 in Scleroderma Is Associated with Upregulation of DNA Methyltransferase-1, Repression of Endothelial Nitric Oxide Synthase Expression, and Enhanced Platelet Adhesion to Endothelial Cells
Yongqing Wang and bashar Kahaleh, University of Toledo, Toledo, OH
Background/Purpose: SSc vasculopathy is characterized by endothelial injury and deficient endothelial-dependent vasodilation leading to occlusive and proliferative vascular outcomes. Platelet activation and elevated circulating platelet…
Abstract Number: 0603 • ACR Convergence 2022
Survivin-dependent Regulation of Bivalent Chromatin and Its Relevance for Adaptive Immunity
Venkataragavan Chandrasekaran¹, Nina Oparina², Karin Andersson², Malin Erlandsson², Maria-Jose Garcia-Bonete³, Maja Jensen⁴, Gergely Katona⁵ and Maria Bokarewa⁶, ¹Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden, ²Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Goteborg, Sweden, ³Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden, ⁴Department of Chemistry and Molecular Biology, Gothenburg, Sweden, ⁵Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden, ⁶Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden
Background/Purpose: Bivalent chromatin (BvCR) is characterized by simultaneous binding of active and repressive modifications to the histone H3 proteins. Influencing expression of the genes, BvCR…
Abstract Number: 1621 • ACR Convergence 2022
Genome-wide Association Study in African American Systemic Sclerosis Patients Identifies a Novel Target – Transforming Growth Factor-β3 (TGFβ3)
Urvashi Kaundal¹, Julia Hartman², Emilee Stenson¹, Sarah Safran¹, Chloe Borden¹, Mousumi Sahu¹, Janet Wang¹, Andrea Conte¹, Ami Shah³, Maureen Mayes⁴, Ayo Doumatey⁵, Amy Bentley⁵, Daniel Shriner⁵, Robyn Domsic⁶, Thomas Medsger⁷, Paula Ramos⁸, Richard Silver⁸, Virginia Steen⁹, John Varga¹⁰, Vivien Hsu¹¹, Lesley Ann Saketkoo¹², Elena Schiopu¹³, Dinesh Khanna¹⁴, Jessica Gordon¹⁵, Lindsey Criswell¹⁶, Heather Gladue¹⁷, Chris Derk¹⁸, Elana Bernstein¹⁹, S. Louis Bridges, Jr.¹⁵, Victoria Shanmugam²⁰, Lorinda Chung²¹, Suzanne Kafaja²², Reem Jan²³, Marcin Trojanowski²⁴, Avram Goldberg²⁵, Benjamin Korman²⁶, Settara Chandrasekharappa⁵, Yongbing Zhao²⁷, Stephen Brooks²⁷, Stefania Dell'Orso¹, Adebowale Adeyemo⁵, Charles Rotimi⁵, Elaine Remmers⁵, Daniel Kastner⁵, Francesco Boin²⁸, Rafael Casellas²⁷, Fredrick Wigley²⁹ and Pravitt Gourh³⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Washington, DC, ³Johns Hopkins Rheumatology, Baltimore, MD, ⁴Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁵National Human Genome Research Institute, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, PA, ⁷University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Georgetown University School of Medicine, Washington, DC, ¹⁰University of Michigan, Ann Arbor, MI, ¹¹Rutgers-RWJ Medical School, South Plainfield, NJ, ¹²University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹³Michigan Medicine, Ann Arbor, MI, ¹⁴Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁵Hospital for Special Surgery, New York, NY, ¹⁶National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁷Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁸University of Pennsylvania, Philadelphia, PA, ¹⁹Columbia University, New York, NY, ²⁰George Washington University, Great Falls, VA, ²¹Stanford University, Stanford, CA, ²²UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²³University of Chicago, Chicago, IL, ²⁴Boston University School of Medicine, Boston, MA, ²⁵NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁶University of Rochester, Rochester, NY, ²⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²⁸Cedars-Sinai Medical Center, Los Angeles, CA, ²⁹Johns Hopkins University, Baltimore, MD, ³⁰National Institutes of Health, Bethesda, MD
Background/Purpose: Transforming Growth Factor-β (TGFβ) isoforms play an important role in extracellular matrix biology. Increased TGFβ-regulated gene signature has been observed in lesional skin and…
Abstract Number: 0606 • ACR Convergence 2022
Mechanism of Joint-Specific Homeobox D10 Regulation in Rheumatoid Arthritis Fibroblast-Like Synoviocytes
Hyeonjeong Lee¹, Camilla Machado², Deepa Hammaker³, Wei Wang⁴, David Boyle⁵ and Gary S. Firestein⁶, ¹University of California San Diego, San Diego, CA, ²UCSD, San Diego, CA, ³UC San Diego, San Diego, CA, CA, ⁴University of California San Diego, San Diego, ⁵UCSD, La Jolla, CA, ⁶University of California, San Diego, San Diego, CA
Background/Purpose: Rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLS) have joint-specific epigenetic and transcriptome profiles. This is particularly notable for homeobox (HOX) genes, which contribute to joint…
Abstract Number: 1698 • ACR Convergence 2022
LINE1 Reverse Transcriptase Inhibitors Abrogate Type 1 Interferon Responses
Daniel Rios¹, Nafeeza Hafeez¹, Brian Desrosiers¹, Shradha Rao¹, Jess Floro¹, Joelle Baddour¹, Nisha Perez², Greg Bisacchi², Oliver Saunders², Donna Romero¹, Menachem Fromer², Enrique Garcia-Rivera², Wilson McKerrow², Julie Behr², Bryan Thornlow², Dennis Zaller², David Proia² and Wenyan Miao², ¹Rome Therapeutics, Cambridge, MA, ²Rome Tx, Cambridge, MA
Background/Purpose: Transposable elements (TEs) are mobile DNA elements that can replicate and move from one position to another within the host genome. Through co-evolution, TEs…
Abstract Number: 0607 • ACR Convergence 2022
Cadherin 6 Regulates Rheumatoid Arthritis Fibroblasts-Like Synoviocyte Aggressiveness
Camilla Machado¹, Hyeonjeong Lee², Sho Sendo³, Narayanan Perumal⁴, Wei Wang⁵, David Boyle⁵ and Gary S. Firestein⁶, ¹UCSD, San Diego, CA, ²University of California San Diego, San Diego, CA, ³University California, San Diego (UCSD), La Jolla, CA, ⁴Eli Lilly Company, San Diego, ⁵University of California San Diego, San Diego, ⁶University of California, San Diego, San Diego, CA
Background/Purpose: Rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLS) display an aggressive behavior. Previous studies have implicated cadherins in FLS function in this phenotype, which are type…
Abstract Number: 1715 • ACR Convergence 2022
Ezh2 Knockout in B Cells Impairs Plasmablast Differentiation and Ameliorates Lupus-like Disease in MRL/lpr Mice
Xiaoqing Zheng¹, Mikhail Dozmorov², Colleen Strohlein¹, Sheldon Bastacky¹ and Amr Sawalha¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Virginia Commonwealth University, Richmond, VA
Background/Purpose: Enhancer of zeste homolog 2 (EZH2) has been shown to regulate early B cell development and the differentiation of antibody secreting cells (ASCs). We…
Abstract Number: 0643 • ACR Convergence 2022
Subsetting SLE Patients Based on DNA Methylation at the Time of Disease Flare
Mary Horton¹, Joanne Nitithalm², Kimberly Taylor³, Laura Trupin⁴, Patricia Katz⁵, Jinoos Yazdany⁶, Maria Dall'Era⁷, Lisa Barcellos⁸, Lindsey Criswell⁹ and Cristina M Lanata¹⁰, ¹NIH/NHGRI, Oakland, CA, ²NIH/NHGRI, Bethesda, MD, ³University of Californi, San Francisco, San Francisco, CA, ⁴UC San Francisco, San Francisco, CA, ⁵UCSF, San Rafael, CA, ⁶UCSF, San Francisco, CA, ⁷University of California, Division of Rheumatology, San Francisco, CA, ⁸School of Public Health, UC Berkeley; National Human Genome Research Institute, National Institutes of Health, Berkeley, CA, ⁹National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁰NIH/NHGRI, Washington, DC
Background/Purpose: Current treatments for SLE do not adequately prevent disease progression. This lack of efficacy, in part, relates to the molecular heterogeneity of disease. The…
Abstract Number: 1726 • ACR Convergence 2022
Impaired Dynamic X-Chromosome Inactivation Maintenance in T Lymphocytes Is a Feature of Spontaneous Lupus in Female Mice and Is Exacerbated in Female-Biased Disease Models
Nikhil Jiwrajka¹, Natalie Toothacre², Zachary Beethem², Sarah Sting², Katherine Forsyth², Amanda Driscoll², William Stohl³ and Montserrat Anguera², ¹Division of Rheumatology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, ²Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, ³University of Southern California, Los Angeles, CA
Background/Purpose: SLE is highly female-biased, yet the molecular origins of this bias remain unclear. The X chromosome contains many immune-related genes, suggesting that X-linked epigenetic…
Abstract Number: 0923 • ACR Convergence 2022
Identification of Cell-Specific DNA Methylation Changes Associated with MTX Treatment Response in Rheumatoid Arthritis
Cameron Adams¹, Nisha Nair², Hong Quach¹, Diana Quach¹, Joanne Nititham³, Mary Nakamura⁴, Jonathan Graf⁵, Lindsey Criswell⁶ and Lisa Barcellos⁷, ¹University of California, Berkeley, Berkeley, CA, ²The University of Manchester, Manchester, United Kingdom, ³National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴UCSF/SFVAHCS, San Francisco, CA, ⁵Ucsf, San Francisco, CA, ⁶National Human Genome Research Institute, NIH, Bethesda, MD, ⁷School of Public Health, UC Berkeley; National Human Genome Research Institute, National Institutes of Health, Berkeley, CA
Background/Purpose: MTX is the recommended first treatment for rheumatoid arthritis (RA); however, only ~40% respond adequately to MTX. Significant joint damage can occur in the…
Abstract Number: 1727 • ACR Convergence 2022
BATF Represses BIM Expression to Sustain the T Cell Anergy Program
Philip Titcombe, Milagros Silva-Morales, Na Zhang and Daniel Mueller, University of Minnesota, Minneapolis, MN
Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…

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