Abstracts tagged "Epigenetics"

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…
Abstract Number: 1818 • ACR Convergence 2025
Epigenetic Profiling of Childhood-onset Lupus Reveals Distinct Epigenetic Clusters and Suggests Epigenetic Drivers of Disease Activity
Desire Casares Marfil¹, Gülşah Kavrul Kayaalp², Vafa Guliyeva², Özlem Akgün², Şeyma Türkmen³, Elif Kilic Konte⁴, Seher Şener⁵, Sezgin Sahin⁴, Ozgur Kasapcopur⁶, Betul Sozeri⁷, Selçuk Sözer Tokdemir⁸, Seza Özen⁹, Nuray Aktay Ayaz² 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, ⁵Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁶Istanbul University-Cerrahpasa, Cerrahpasa Medical School, istanbul, Turkey, ⁷Health sciences university, Istanbul, Turkey, ⁸Istanbul University, Istanbul, Turkey, ⁹Hacettepe University Medical Faculty, Ankara, Turkey
Background/Purpose: Childhood-onset lupus is generally associated with a more severe disease course than adult-onset lupus. DNA methylation alterations are known to play a key role…
Abstract Number: 0038 • ACR Convergence 2025
DNA Methylation Signatures of Smoking in Labial Salivary Gland Tissue in a Sjögren’s Disease Cohort
Priya Bhatt¹, Mary Horton², Caroline Shiboski³, Lisa Barcellos⁴ and Lindsey Criswell², ¹Mayo Clinic Alix School of Medicine, Toledo, ²NIH/NHGRI, Bethesda, MD, ³University of California San Francisco, San Francisco, CA, ⁴UC Berkeley, Berkeley
Background/Purpose: Cigarette smoking has been linked to the development of several autoimmune diseases, including Sjögren’s Disease (SjD). Since DNA methylation (DNAm) is altered by cigarette…
Abstract Number: 1756 • ACR Convergence 2025
Exosomal Cargo and Surface Markers: Informative Signals in Axial Spondyloarthritis
Fataneh Tavasolian¹, star lively², chiara Pastrello³, Melissa Lim¹, Addison Pacheco⁴, Zoya Qaiyum⁵, Michael Tang⁴, Zeynep Baskurt³, Igor Jurisica⁶, Mohit Kapoor⁵ and Robert Inman⁴, ¹University of Toronto, Toronto, ON, Canada, ²University Heaklth Network, Toronto, ³University Health Network, Toronto, ⁴University Health Network, Toronto, ON, Canada, ⁵Schroeder Arthritis Institute, University Health Network, Toronto, ON, Canada, ⁶University Health Network, Toronto, Canada
Background/Purpose: Exosomes are small extracellular vesicles carrying surface molecules and molecular cargo, including microRNAs (miRNAs), that mediate intercellular communication. Both the exosomal cargo and surface…
Abstract Number: 1723 • ACR Convergence 2025
Impaired Maintenance of X-Chromosome Inactivation in B Cells, But Not T Cells, Exacerbates Interferon-Driven Systemic Autoimmunity
Nikhil Jiwrajka¹, Claudia Lovell¹, Zowie Searcy¹, Katherine Forsyth¹, Emma Welter¹, Natalie Toothacre², Nuriban Valero-Pacheco¹, Katherine Premo¹ and Montserrat Anguera¹, ¹University of Pennsylvania, Philadelphia, PA, ²University of Pennsylvania, Philadelphia
Background/Purpose: Many systemic autoimmune diseases associated with chronic type 1 interferon (IFN) signaling, including SLE, SjD, and SSc, preferentially afflict females. The biological basis of…
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…

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