Abstracts tagged "Epigenetics"

Abstract Number: 0014 • ACR Convergence 2023
The 330 Genetic Risk Loci of Systemic Lupus Erythematosus (SLE) Now Known Are Consonant with Multiple Causal Mechanisms Involving Epstein-Barr Virus (EBV)-Encoded Transcription Co-factors (TFs) in EBV-Infected B Cells
Viktoryia Laurynenka¹, Xiaoting Chen², sreeja Parameswaran², Leah Kottyan², Matthew Weirauch², Iouri Chepelev³, Kenneth Kaufman³ and John Harley³, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Association of EBV infection with SLE, data suggesting an anti-EBNA1 molecular mimicry fostering SLE autoimmunity, and mechanisms in EBV infected B cells support a…
Abstract Number: 2507 • ACR Convergence 2023
ZCCHC6 Modulates the Global Phosphorylation Landscape in TNF-a-induced Rheumatoid Arthritis Synovial Fibroblasts
Anil Singh, Farheen Sultan Shaikh and Salahuddin Ahmed, Washington State university, Spokane, WA
Background/Purpose: ZCCHC6, also known as TUT7 or TENT2, plays a crucial role in RNA processing and metabolism through its uridylyl transferase function. This function involves…
Abstract Number: 0031 • ACR Convergence 2023
A Systematic Approach for Identifying Causal Variants and Their Target Genes on JIA Risk Haplotypes
Kaiyu Jiang¹, tao liu², Ryan Tewhey³, Susan Kales³, Yungki Park⁴ and James N Jarvis⁵, ¹University at Buffalo, Buffalo, NY, ²Roswell Park Cancer Institute, Buffalo, NY, ³Jackson Laboratories, Bar Harbor, ME, ⁴University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, NY, ⁵University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…
Abstract Number: 0046 • ACR Convergence 2023
Circulating Monocytes in RA, SSc, and SLE Have Radically Altered and Unique Transcriptional & Epigenetic Profiles
Kieran Woolcock¹, Nila Servaas², Maarten van der Kroef², Stephen Delaney³, John Cole¹, Aridaman Pandit² and Carl Goodyear¹, ¹University of Glasgow, Glasgow, United Kingdom, ²University Medical Center Utrecht and Utrecht University, Utrecht, Netherlands, ³Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden
Background/Purpose: Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Systemic sclerosis (SSc) are all systemic rheumatic autoimmune diseases with a dysregulated myeloid compartment. Monocytes are…
Abstract Number: 0047 • ACR Convergence 2023
Identification of Specific Monocyte Epigenetic Signatures in Sarcoidosis and Tuberculosis
Marie Robert¹, Nader Yatim², Arthur Mageau³, Nicolas Charles⁴, Tiphaine Goulenok², Tom Dott¹, Violaine Saint Andre¹, Darragh Duffy¹ and Karim Sacre³, ¹Institut Pasteur Paris, Paris, France, ²Assistance Publique Hopitaux de Paris, Paris, France, ³Université Paris Cité, Paris, France, ⁴INSERM, Paris, France
Background/Purpose: Sarcoidosis is an inflammatory disease characterized by granuloma tissue lesions that most commonly affect the lungs, but can target any other organ. While the…
Abstract Number: 0080 • ACR Convergence 2023
Pharmacological Inhibition of PRMT5 Demonstrates Broad Efficacy in Multiple Preclinical Models of Autoimmunity and Inflammation by Suppressing Th1, Th17 and TNF-Mediated Inflammatory Responses
Neha Bhagwat¹, Kumar Penmetsa², Matt Devalaraja³, Suzana Marusic⁴, Cornelia M. Weyand⁵, Shozo Ohtsuki⁶, Peggy Scherle¹ and Kris Vaddi¹, ¹Prelude Therapeutics, Inc, Wilmington, DE, ²Thermo Fisher Scientific, Philadelphia, PA, ³Nipuna Therapeutics, Waltham, MA, ⁴Hooke Laboratories LLC, Lawrence, MA, ⁵Mayo Clinic School of Medicine and Stanford University, Rochester, MN, ⁶Mayo Clinic College of Medicine and Science, Stanford University School of Medicine, Rochester, MN
Background/Purpose: Protein arginine methyltransferase 5 (PRMT5) is the major type II PRMT that catalyzes the formation of symmetrical dimethyl arginine (SDMA) on protein substrates and…
Abstract Number: 0091 • ACR Convergence 2023
Impaired X-Chromosome Inactivation Maintenance in T Cells Is Associated with Features of Reduced Disease Severity in a Toll-Like Receptor 7-Driven Model of Systemic Autoimmunity
Nikhil Jiwrajka¹, Zowie Searcy², Claudia Lovell², Natalie Toothacre², Katherine Forsyth² and Montserrat Anguera², ¹Divison of Rheumatology, Department of Medicine, Hospital of the University of Pennsylvania, Phildelphia, PA, ²Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA
Background/Purpose: Many systemic autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), Sjögren's syndrome, and systemic sclerosis are highly female-biased. Although these diseases are more prevalent…
Abstract Number: 015 • 2023 Pediatric Rheumatology Symposium
Epigenetically-Distinct B Cell Profiles Pre- and Post-Induction Therapy in Pediatric Lupus
Joyce Hui-Yuen¹, Kaiyu Jiang², Susan malkiel³, Betty Diamond⁴ and James Jarvis⁵, ¹Cohen Children's Medical Center, Northwell Health, Lake Success, New York; Center for Autoimmune, Musculoskeletal, and Hematopoietic Diseases Research, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, ²University at Buffalo, Buffalo, NY, ³Feinstein Institutes for Medical Research, Manhasset, NY, ⁴The Feinstein Institutes for Medical Research, Manhasset, NY, ⁵University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: Systemic lupus erythematosus (SLE) may be triggered by gene-environment interactions. Data are scarce on how epigenetic variance contributes to disease risk in pediatric SLE…
Abstract Number: 112 • 2023 Pediatric Rheumatology Symposium
Adverse Childhood Experiences: Prevalence and Relationship to Disease in Childhood-onset Lupus
Olivia Hendrikx¹, Stephanie Fevrier¹, Ibrahim Mohamed¹, Chelsea DeCoste², Paris Moaf¹, Lawrence Ng¹, Deborah Levy¹, Linda Hiraki¹, Alene Toulany¹ and Andrea Knight¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²IWK Health Centre, Halifax, NS, Canada
Background/Purpose: Adverse Childhood Experiences (ACEs) measure traumatic experiences in childhood. ACEs are associated with epigenetic changes, are known to increase stress response and inflammation, and…
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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