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: 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…
Abstract Number: 1654 • ACR Convergence 2024
CRTAC1 in Osteoarthritis: Implications for Disease Severity and miRNA Regulation
Aneta Prokopcová¹, Jiri Baloun², Adéla Navrátilová³, Klára Mocová², Lucia Ondrejčáková⁴, Jana Juhaszova², Tereza Kropáčková¹, Hana Storkanova⁵, Michal Tomcik⁵, Jindriska Gatterova², Olga Sleglova², Olga Ruzickova², Eva Kriegova⁶, Jiri Gallo⁷, Rastislav Ballay⁸, Petr Fulin⁹, Jiří Vencovský¹ and Ladislav Šenolt¹, ¹Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, ²Institute of Rheumatology, Prague, Czech Republic, ³1st Faculty of Medicine, Charles University and Institute of Rheumatology in Prague, Hlavní mesto Praha, Czech Republic, ⁴Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, ⁵Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, Prague, Czech Republic, ⁶Department of Immunology, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia, Olomouc, Czech Republic, ⁷Department of Orthopaedics, University Hospital Olomouc, Olomouc, Czech Republic, ⁸1st Faculty of Medicine, Charles University, Prague, Czechia, Prague, Czech Republic, ⁹1st Department of Orthopaedics, First Faculty of Medicine of Charles University and Motol University Hospital, Prague, Czechia, Prague, Czech Republic
Background/Purpose: Cartilage acidic protein1 (CRTAC1) is a potential biomarker linked to osteoarthritis (OA) and cartilage degeneration. This study aimed to compare CRTAC1 levels in the…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].