Abstracts tagged "Epigenetics"

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…
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…

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