Abstracts tagged "Epigenetics"

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,…
Abstract Number: 2275 • ACR Convergence 2025
Agreement Between Two Rheumatoid Arthritis Response Measures Across b/ts DMARD Treatment Classes in a Large, Prospective Observational Study Supporting the Development and Clinical Validation of a Novel Blood-based Precision Medicine Test
Peter Taylor¹, Jason Carlson², Shirley Vu², Signe Fransen³, Diana Abdueva⁴ and Jeffrey Curtis⁵, ¹University of Oxford, Oxford, United Kingdom, ²Aqtual Inc, Hayward, CA, ³Aqtual, sf, CA, ⁴Aqtual, Hayward, CA, ⁵Foundation for Advancing Science, Technology, Education and Research, Birmingham, AL
Background/Purpose: Contemporary pharmacological management of rheumatoid arthritis (RA) is set within a treat-to-target framework. This requires quantitative, longitudinal assessments of disease activity with a view…
Abstract Number: 0084 • ACR Convergence 2025
Regulation of the same chemokine gene transcription by different histone lysine methyltransferases, MLL1 and MLL3, in rheumatoid arthritis synovial fibroblasts
Keita Okamoto¹, Yasuto Araki², Yoshimi Aizaki², Hiroshi Kajiyama³, Kazuhiro Yokota², Yu Funakubo², Yuho Kadono⁴, Yuji Akiyama⁵ and Toshihide Mimura⁶, ¹Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Moroyama-chou, Iruma-gun, Saitama, Japan, ²Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan, ³Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Iruma-gun, Saitama, Japan, ⁴Department of Orthopaedic Surgery, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan, ⁵Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan, ⁶Saitama Seikeikai Hospital, Higashimatsuyama, Saitama, Japan
Background/Purpose: Rheumatoid arthritis synovial fibroblasts (RASFs) produce various matrix metalloproteinases (MMPs), cytokines, and chemokines. Histone lysine methylation has been shown to play an important role…
Abstract Number: 1823 • ACR Convergence 2025
Genome-Wide DNA Methylation Analysis in Familial Mediterranean Fever
Kader Cetin Gedik¹, Desire Casares Marfil², Busra Baser Taskin³, Elif Kilic Konte⁴, Sezgin Sahin⁴, Mckenna Bowes², Ferhat Guzel⁵, Micol Romano⁶, Ozgur Kasapcopur⁷, Nuray Aktay Ayaz³, Erkan Demirkaya⁶ and Amr Sawalha², ¹UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³Istanbul University Medical School, Istanbul, Turkey, ⁴Istanbul University Cerrahpasa Medical School, Istanbul, Turkey, ⁵Department of Research and Development, Ant Biotechnology, Istanbul, Turkey, ⁶University of Western Ontario, London, ON, Canada, ⁷Istanbul University-Cerrahpasa, Cerrahpasa Medical School, istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is an autoinflammatory disease most commonly associated with biallelic mutations in the MEFV gene. Patients carrying the same pathogenic variant…
Abstract Number: 0044 • ACR Convergence 2025
DNA Methylation Signatures in Systemic Lupus Erythematosus and Rheumatoid Arthritis Highlight Divergent Immune Pathways
Rufei Lu¹, Tayte Stephens², Carla Guthridge¹, Miles Smith¹, Joseph Kheir¹, Cristina Arriens¹, Joan Merrill³, Marci Beel⁴, Susan Macwana¹, Wade DeJager⁵, Nicholas Domingez¹, Teresa Aberle¹, Joel Guthridge¹ and Judith James¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Oklahoma Health Science Center, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City ⁷³¹⁰⁴, OK, ⁴Oklahoma Medical Research Foun, Oklahoma City, OK, ⁵Oklahoma Medical Research Foundation, Oklahoma City
Background/Purpose: Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are autoimmune diseases with distinct clinical and immunopathological features. Epigenetic modifications, particularly DNA methylation, contribute to…

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