Abstracts tagged "Epigenetics"

Abstract Number: 1700 • ACR Convergence 2025
Altered Gene Expression In Male SLE Is Mapped To a Male-Specific Y Chromosome Locus Associated with Microdeletions
Mikhail Olferiev¹, Kyriakos Kirou¹, Emily Wu², Dina Greenman¹ and Mary Crow³, ¹Hospital for Special Surgery, New York, NY, ²Hospital for Special Surgery, Union City, NJ, ³Hospital for Special Surgery, New York
Background/Purpose: SLE occurs more frequently in females than males, with relative prevalence 9-10:1. While the impact of hormones on immune function may contribute to the…
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: 2647 • ACR Convergence 2025
Unlinked Paths to SLE: Divergent Associations of DNA Methylation and Polygenic Risk Scores with SLE Features
Holme Vestin¹, Nina Oparina¹, Elisabeth Skoglund¹, 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 aetiopathogenesis of SLE encompasses genetic and epigenetic factors, including hypomethylation of type I interferon (IFN) regulated genes (1) and the HLA-DRB1*03:01 haplotype, linked…
Abstract Number: 0111 • ACR Convergence 2025
Predicting Response To Adalimumab In Patients With Psoriatic Arthritis Using Epigenetic Chromosome Conformation Signatures
Patricia Riedlova¹, Ewan Hunter², Christine Huppertz³, Maarten de Wit⁴, Stephen R. Pennington⁵, Oliver FitzGerald⁶, Jochen M. Schwenk⁷, Rik Lories⁸, Carl S. Goodyear¹ and Stefan Siebert¹, ¹University of Glasgow, Glasgow, United Kingdom, ²Oxford BioDynamics Plc, Oxford, United Kingdom, ³Novartis Pharma AG, Basel, Switzerland, ⁴Patient Research Partner, Stichting Tools, Amsterdam, Netherlands, ⁵University College Dublin, DUBLIN, Ireland, ⁶UCD, Dublin ⁶, Dublin, Ireland, ⁷KTH Royal Institute of Technology, Solna, Sweden, ⁸KU Leuven, Leuven, Belgium
Background/Purpose: TNF inhibitors (TNFi) have proven efficacy in psoriatic arthritis (PsA) and are commonly prescribed as first line targeted therapy in PsA. However, response to…
Abstract Number: 2646 • ACR Convergence 2025
DNA methylation-based clustering reveals clinically distinct subtypes of systemic lupus erythematosus
Meghan Nelson¹, Mary Horton², Joanne Nititham², Jinoos Yazdany³, Maria Dall'Era⁴, Cristina Lanata⁵ and Lindsey Criswell², ¹NIH/NIAMS/NHGRI, Bethesda, MD, ²NIH/NHGRI, Bethesda, MD, ³UCSF, San Francisco, CA, ⁴Division of Rheumatology, University of California, San Francisco, CA, ⁵NIH/NHGRI, Bethesda
Background/Purpose: Systemic lupus erythematosus (SLE) is a heterogenous autoimmune disease with significant variability in clinical presentation. DNA methylation has been associated with lupus risk and…
Abstract Number: 0104 • ACR Convergence 2025
Dissecting the Genetic and Functional Association of CARD9 with Axial Spondyloarthritis
Félicie Costantino¹, Eva Frison², Andrew Brown³, Carla Cohen³, Manon Jacoutot⁴, Gabriele Migliorini³, roula Said-Nahal⁵, Giuseppe Scozzafava³, Paul Bowness⁶, Paul Wordsworth⁶, Henri-Jean Garchon², Simon Glatigny⁴, Maxime Breban⁷ and Julian Knight⁶, ¹Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ²Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny le Bretonneux, France, ³NIHR Oxford Biomedical Research Centre, University of Oxford, Centre for Human Genetics, Oxford, United Kingdom, ⁴Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ⁵Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Boulogne-Billancourt, France, ⁶NIHR Oxford Biomedical Research Centre, University of Oxford, NDORMS, Oxford, United Kingdom, ⁷CHU Ambroise-Paré, Boulogne-Billancourt, France
Background/Purpose: Axial spondyloarthritis (axSpA) is a chronic immune-mediated inflammatory disease with strong genetic predisposition, driven by HLA-B27 and over 100 additional loci identified by genome-wide…
Abstract Number: 2410 • ACR Convergence 2025
Immune Cell/Pathway-Specific Polygenic Risk Scores Reveal Immune Pathway Associations in Childhood-Onset Lupus Nephritis
Liyoung Kim¹, Daniela Fernandez-Salinas², Gonzalo Villanueva Martin³, Vitor Aguiar³, Laura Lewandowski⁴, Tiphanie Vogel⁵, Carola Vinuesa⁶, Linda Hiraki⁷, Tracey Wright⁸, Virginia Pascual⁹, Joyce Chang², Maria Gutierrez-Arcelus² and Peter Nigrovic¹, ¹Boston Children's Hospital, Brookline, MA, ²Boston Children's Hospital, Boston, MA, ³Boston Children's Hospital, Boston, ⁴NIAMS, NIH, Bethesda, MD, ⁵Baylor College of Medicine, Houston, TX, ⁶Francis Crick Institute, London, United Kingdom, ⁷The Hospital for Sick Children, Toronto, ON, Canada, ⁸UT Southwestern, Children's Medical Center, and Scottish Rite for Children, Dallas, TX, ⁹Weill Cornell Medical College, New York, NY
Background/Purpose: Polygenic risk scores (PRS) quantify an individual’s genetic susceptibility to diseases by integrating genotype data across multiple loci. However, conventional PRS are limited in…
Abstract Number: 0097 • ACR Convergence 2025
Aberrant histone marks increase the inflammatory phenotype of rheumatoid arthritis fibroblast-like synoviocytes (RA FLS) by suppressing NUB1 induction
Yosuke Ono¹, Camilla R.L. Machado², Eunice Choi¹, Wei Wang¹, David Boyle¹ and Gary Firestein², ¹University of California, San Diego, San Diego, ²University of California, San Diego, San Diego, CA
Background/Purpose: Fibroblast-like synoviocytes (FLS) play a central role in cartilage destruction and cytokine production in rheumatoid arthritis (RA). Neddylation, a post-translational modification involving NEDD8 conjugation,…

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