Abstracts tagged "Epigenetics"

Abstract Number: 1698 • ACR Convergence 2025
X Chromosome DNA Methylation Changes Suggest Epigenetic Contributions to Immune Dysregulation in Male Lupus
Desire Casares Marfil¹, Gülşah Kavrul Kayaalp², Vafa Guliyeva², Özlem Akgün², Şeyma Türkmen³, Elif Kilic Konte⁴, Sezgin Sahin⁴, Ozgur Kasapcopur⁵, Betul Sozeri⁶, Selçuk Sözer Tokdemir⁷, Nuray Aktay Ayaz⁸ and Amr Sawalha¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Istanbul University Faculty of Medicine, Istanbul, Turkey, ³University of Health Sciences, Umraniye Research and Training Hospital, Istanbul, Turkey, ⁴Istanbul University Cerrahpasa Medical School, Istanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Cerrahpasa Medical School, istanbul, Turkey, ⁶Health sciences university, Istanbul, Turkey, ⁷Istanbul University, Istanbul, Turkey, ⁸Istanbul University Medical School, Istanbul, Turkey
Background/Purpose: DNA methylation plays a critical role in the pathogenesis of lupus. Although most epigenetic studies have focused on autosomal regions, the X chromosome remains…
Abstract Number: 0969 • ACR Convergence 2025
FOXO1 Mediated Polysialic Acid Dysregulation in Severe Systemic Sclerosis (SSc): A Novel Biomarker and Therapeutic Target?
Lamia Khan¹, Lisa Willis², Jan Storek³, Desiree Redmond⁴, Robert Gniadecki⁴ and Mohammed Osman¹, ¹University of Alberta, Edmonton, AB, Canada, ²Department of Biological Sciences, University of Alberta, Edmonton, AB, Canada, ³University of Calgary, Calgary, AB, Canada, ⁴Department of Medicine, University of Alberta, Edmonton, AB, Canada
Background/Purpose: Systemic sclerosis (SSc) is a life-threatening autoimmune disease where fibroblasts (FB) contribute to disease severity by resisting apoptosis and driving excessive skin fibrosis. Among…
Abstract Number: 0955 • ACR Convergence 2025
Surveying RNA methylation in scleroderma highlights roles for demethylases ALKBH5 and FTO in fibrosis
Alexander Cai¹, Alyssa Rosek¹, Neha Khanna¹, Anna Webber¹, Karly Kozicki¹, Dinesh Khanna² and Pei-Suen Tsou², ¹Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA, Ann Arbor, ²University of Michigan, Ann Arbor, MI
Background/Purpose: Recent studies indicate that genes involved in RNA methylation may play a significant role in cellular functions, and disruptions in RNA methylation have been…
Abstract Number: 0693 • ACR Convergence 2025
Impact of X Chromosome Dosage on the Development of Diffuse and Limited Systemic Sclerosis in Klinefelter, Triple X, and Turner Syndromes: A Multicenter Cohort Study
Hanieh Akbari¹, Anna-Kay Palmer² and Irene Tan³, ¹Jefferson Einstein Montgomery Medical Center, Norristown, PA, ²Jefferson Einstein Philadelphia Hospital, Department of Internal Medicine, Philadelphia, PA, ³Einstein Healthcare Network Philadelphia - Jefferson Health, Bala Cynwyd, PA
Background/Purpose: Diffuse and limited systemic sclerosis (SSc) are autoimmune connective tissue diseases with a strong female predominance, suggesting a potential role for X chromosome dosage…
Abstract Number: 0637 • ACR Convergence 2025
DNA Methylation Patterns Differ Between Genetically Similar Systemic Lupus Erythematosus (SLE) Patients From Peru and the U.S.
Sundus Dwidar¹, Mary Horton², Meghan Nelson³, Joanne Nititham², Richard Oppong³, Frank Donovan⁴, Jinoos Yazdany⁵, Maria Dall'Era⁶, Lisa Barcellos⁷, Heinner Guio⁸, Manuel Ugarte-Gil⁹, Lindsey Criswell² and Cristina Lanata¹⁰, ¹National Institutes of Health, Washington, ²NIH/NHGRI, Bethesda, MD, ³National Institutes of Health, Bethesda, MD, ⁴National Institutes of Health, Bethesda, ⁵UCSF, San Francisco, CA, ⁶Division of Rheumatology, University of California, San Francisco, CA, ⁷UC Berkeley, Berkeley, ⁸Universidad de Huanuco, Lima, Peru, ⁹Grupo Peruano de Estudio de Enfermedades Autoinmunes Sistémicas, Universidad Científica del Sur, Lima, Peru; Hospital Guillermo Almenara Irigoyen, EsSalud, Lima, Peru, Lima, Peru, ¹⁰NIH/NHGRI, Bethesda
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease that disproportionately affects individuals of Amerindian ancestry and those who self-identify as Hispanic. The term “Hispanic”…
Abstract Number: 0625 • ACR Convergence 2025
DNA methylation patterns in systemic lupus erythematosus associated with nephritis status
Meghan Nelson¹, Mary Horton², Joanne Nititham³, Jinoos Yazdany⁴, Maria Dall'Era⁵, Cristina Lanata³ and Lindsey Criswell², ¹NIH/NIAMS/NHGRI, Bethesda, MD, ²NIH/NHGRI, Bethesda, MD, ³NIH/NHGRI, Bethesda, ⁴UCSF, San Francisco, CA, ⁵Division of Rheumatology, University of California, San Francisco, CA
Background/Purpose: Individuals with systemic lupus erythematosus (SLE) experience significant variability in clinical outcomes. Our current understanding of the causes of disease heterogeneity are limited, preventing…
Abstract Number: 2648 • ACR Convergence 2025
Transcriptome analysis of quiescent SLE cases uncovers dysregulated pathways associated with disease flares
Lorenzo Beretta¹, Guillermo Barturen², Torsten Witte³, Ignasi Rodriguez-Pinto⁴, Ricard Cervera⁵, Rafaela Ortega-Castro⁶, Falk Hiepe⁷, László Kovacs⁸, Bohacsi Virag⁸, Raquel Faria⁹, Dionysis Nikolopoulos¹⁰, Barbara Vigone¹¹, Marta Alarcon-Riquelme¹² and Ioannis Parodis¹³, ¹Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di MIlano, Milan, Milan, Italy, ²Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, ³Dept of Rheumatology and Immunology, Hannover, Niedersachsen, Germany, ⁴HospitalClínic, Institut d'Investigacions Biomediques August Pi i Sunye, Department of Autoimmune Diseases, Barcelona, Spain, ⁵Hospital Clinic Barcelona, Barcelona, Spain, ⁶Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Andalucia, Spain, ⁷Charité - Universitétsmedizin Berlin, Berlin, Germany, ⁸University of Szeged, Department of Rheumatology and Immunology, Faculty of Medicine, Szeged, Hungary, ⁹UIC, Porto, Portugal, ¹⁰Karolinska Institutet and Karolinska University Hospital, Division of Rheumatology, Department of Medicine Solna, Stockholm, Sweden, ¹¹Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Referral Center for Systemic Autoimmune Diseases, Milano, Italy, ¹²Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ¹³Karolinska Institutet and Karolinska University Hospital, Department of Medicine Solna, Division of Rheumatology, Stockholm, Sweden
Background/Purpose: Unpredictability is a major challenge in systemic lupus erythematosus (SLE). Routinely used clinical and laboratory parameters fail to predict the risk of and time…
Abstract Number: 0594 • ACR Convergence 2025
Patients with SLE Have an Increased Bisphenol A Methylation Score Linked to SLE Risk Genes and Immune Response Pathways
Holme Vestin¹, Nina Oparina¹, Maija-Leena Eloranta¹, Martina Frodlund², Iva Gunnarsson³, Chrisopher Sjöwall², Elisabet Svenungsson⁴, Lars Rönnblom¹, Juliana Imgenberg-Kreuz¹ and Dag Leonard¹, ¹Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden, ³Division of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, ⁴Karolinska Institutet, Stockholm, Stockholms Lan, Sweden
Background/Purpose: The pathogenesis of SLE involves genetic, environmental and epigenetic factors (1). Increased levels of Bisphenol A (BPA) have been observed in the urine of…
Abstract Number: 0066 • ACR Convergence 2024
Association Between Gut Microbiota, Inflammation, and Epigenetics in Rheumatoid Arthritis Patients
jose Manuel Lisbona-Montañez¹, Arkaitz Mucientes², Patricia Ruiz-Limón³, Gracia María Martín-Nuñez⁴, Rocio Redondo-Rodríguez⁴, Laura Cano-García⁴, Sara Manrique-Arija⁵, Isabel Moreno-Indias², Natalia Mena Vázquez⁶ and Antonio Fernández-Nebro⁷, ¹University of Malaga, Malaga, Andalucia, Spain, ²IBIMA Plataforma BIONAND, Malaga, Andalucia, Spain, ³IBIMA, Instituto de Biomedicina de Málaga, Cordoba, Spain, ⁴IBIMA Plataforma Bionand, Malaga, Spain, ⁵Biomedical Research Institute of Malaga (IBIMA)-Bionand Platform, Department of Rheumatology, Regional University Hospital of Malaga, Malaga, Spain, ⁶IBIMA, Málaga, Andalucia, Spain, ⁷Department of Rheumatology, Hospital Universitario de Málaga, Málaga, Andalucia, Spain
Background/Purpose: The etiology of rheumatoid arthritis (RA) is not entirely known. Epigenetic modifications could be the link between genetic and environmental factors related to the…
Abstract Number: 0610 • ACR Convergence 2024
Clinical Evaluation on IFI44L Gene Methylation Detection for Diagnosis of Systemic Lupus Erythematosus by Methylation Sensitive High Resolution Melting (MS-HRM)
Xiaoping hong and liancheng lin, The Second Clinical Medical College of Jinan University, Shenzhen, China (People's Republic)
Background/Purpose: To evaluate the clinical effectiveness of IFI44L gene methylation detection for the diagnosis of Systemic Lupus Erythematosus (SLE) by MS-HRM, to determine the relative…
Abstract Number: 0784 • ACR Convergence 2024
RUNX1 Is Expressed in a Subpopulation of Dermal Fibroblasts and Is Increased with Systemic Sclerosis Disease Severity
Rezvan Parvizi¹, Zhiyun Gong², Helen Jarnagin², Tamar Abel², Dillon Popovich³, Madeline Morrisson⁴, Tammara Wood⁵, Sasha Shenk⁶, Monique Hinchcliff⁷, jonathan Garlick⁶, Patricia Pioli⁸ and Michael Whitfield¹, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Dartmouth College, Lebanon, NH, ³Dartmouth College, West Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Tufts University, Boston, MA, ⁷Yale School of Medicine, Westport, CT, ⁸Geisel School of Medicine at Dartmouth, Lebanon, NH
Background/Purpose: Systemic Sclerosis (SSc) skin fibrosis results in complex changes in transcriptional and signaling pathways in the skin. Through transcription factor activity network analyses, the…
Abstract Number: 0863 • ACR Convergence 2024
The Development of Future Radiographic Knee Osteoarthritis Can Be Predicted by Peripheral Blood Epigenetic Models
Cindy Miranda¹, Nicholas Hannebutt², Gabby dyson³, Montana Barrett⁴, Aleksander Szymczak³ and Matlock Jeffries³, ¹Oklahoma Medical Research Foundation, Yukon, OK, ²Oklahoma Medical Research Foundation, Spencer, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴University of Oklahoma, Cement, OK
Background/Purpose: Knee osteoarthritis (OA) is a heterogeneous disease characterized by a variety of clinical and molecular phenotypes. However, we do not yet have robust biomarkers…
Abstract Number: 0897 • ACR Convergence 2024
Dynamic eQTLs from Activated Human B Cells Suggest Cell-state Dependent Effects for GWAS Risk Variants in BLK
Yao Fu, David Murphy, Richard Pelikan, Jeniffer Kelly, Kiely Grundahl, Satish Pasula, Kandice Tessneer and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex genetic disease in which B cells play a critical role in pathogenesis. Previous genome-wide association studies (GWAS)…
Abstract Number: 0941 • ACR Convergence 2024
DC-9476, a Novel Selective BRD4(BD2) Inhibitor, Improves Arthritis Scores in Preclinical Models of Rheumatoid Arthritis by Regulating Key Inflammatory Pathways
Michal Segal Salto¹, Rebecca Ross², Steven Ferrara³, Kelvin Chan⁴, Elvira haimov⁵, Francesco Del Galdo⁶ and Kulveer Mankia⁶, ¹DeepCure Inc., Tel Aviv, Israel, ²Medicine and Health, University of Leeds, Leeds, United Kingdom, ³DeepCure Inc., Boston, MA, ⁴DeepCure Inc., Texas, NV, ⁵DeepCure Inc., Los Angeles, CA, ⁶University of Leeds, Leeds, United Kingdom
Background/Purpose: Bromodomain and Extra-Terminal domain (BET) family proteins (BRD2, BRD3, BRD4, and BRDT) control the transcription of a wide range of proinflammatory and immunoregulatory genes.…
Abstract Number: 1653 • ACR Convergence 2024
Osteoarthritis Drives Inflammatory Imprinting of Synovial Fibroblasts, Exacerbating Gouty Arthritis Through m6A Modification of S100A4
ZIYI CHEN¹, Yinghui Hua² and Wenjuan Wang¹, ¹Department of Sports Medicine, Huashan Hospital,Fudan University, Shanghai, Shanghai, China (People's Republic), ²Department of Sports Medicine, Huashan Hospital,Fudan University, Shanghai, China (People's Republic)
Background/Purpose: Patients with osteoarthritis (OA) face an elevated risk of future gouty arthritis (GA). To delineate the underlying cellular and molecular mechanisms of OA-driven gout…

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