Abstracts tagged "Gene Expression"

Abstract Number: 0797 • ACR Convergence 2025
Spatial transcriptomics identifies density-sensing fibroblasts in synovial lining
Sonia Presti¹, Kseniia Anufrieva², Ce Gao³, Sean Prell², Philip Blazar², Jeffrey Lange², Morgan Jones², Mihir Wechalekar⁴, Michael Brenner², Ilya Korsunsky⁵, Shideh Kazerounian² and Kevin Wei⁶, ¹Standford University, Stanford, ²Mass General Brigham, Boston, ³Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Harvard Medical School, Boston, MA, ⁴Flinders Medical Centre, Adelaide, Australia, ⁵Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Division of Genetics, DOM, BWH; Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: The synovial lining is crucial for joint homeostasis, forming a barrier and producing lubricants through specialized fibroblasts. These fibroblasts differ from sublining fibroblasts, which…
Abstract Number: 2700 • ACR Convergence 2025
Neutrophil Transcriptomics and Maturation Pathways in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad², Tom Hill³, Benjamin Turturice¹, Urvashi Kaundal¹, Paul Schaughency³, Bhavisha Patel⁴, Emma Groarke⁵, Neal Young⁵, Stefania Dell'orso¹ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Health, Stockholm, Sweden, ³NIAID, NIH, Bethesda, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁵National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset inflammatory disease caused by somatic mutations of the ubiquitin-like modifier activating enzyme…
Abstract Number: 1812 • ACR Convergence 2025
Inflammasome and UPR activation in monocytes of HLA B27 positive children with Enthesitis related arthritis category of JIA
Shivika Guleria¹ and Amita Aggarwal², ¹SGPGIMS, Lucknow, Lucknow, Uttar Pradesh, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, Lucknow, Uttar Pradesh, India
Background/Purpose: Enthesitis related arthritis (ERA) is a chronic immune-inflammatory disease with unknown etiology. HLA-B27 is the strongest risk factor predisposing to ERA like Spondyloarthritis (SpA).…
Abstract Number: 0782 • ACR Convergence 2025
Expansion of T-bet⁺ Age-Associated B Cells Is Associated with Clinical Complications in Still’s Disease
Krisztian Csomos¹, Boglarka Ujhazi¹, Mariana Correia Marques², Emily Rosenbaum¹ and Michael Ombrello³, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ²Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease is a rare and severe autoinflammatory disorder characterized by daily spiking fevers, arthritis, an evanescent rash, and prominent systemic features, including lymphadenopathy,…
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: 1788 • ACR Convergence 2025
Manganese-associated Single-nucleotide Polymorphisms are Associated with Radiographic Knee Osteoarthritis: The Johnston County Osteoarthritis Project
Griffin Sonaty¹, Carolina Alvarez², Liubov Arbeeva³, Joanne Jordan¹, Brian Diekman⁴, Doug Phanstiel¹, Richard Loeser⁵ and Amanda Nelson¹, ¹University of North Carolina at Chapel Hill, Chapel Hill, NC, ²University of North Carolina at Chapel Hill, Miami, FL, ³University of North Carolina, Chapel Hill, Carrboro, NC, ⁴Univesity of North Carolina at Chapel Hill, Chapel Hill, NC, ⁵University of North Carolina, Chapel Hill, NC
Background/Purpose: Trace elements may be differentially associated with osteoarthritis (OA) risk. Single-nucleotide polymorphisms (SNPs) have been found to correlate to cumulative exposure level, free of…
Abstract Number: 0320 • ACR Convergence 2025
Transcriptomic profiling of the skeletal muscle of knee OA patients uncovers elevated glucocorticoid and GABA signaling as mediators of skeletal muscle dysfunction in advanced disease
Gina Many¹, Tyler Mansfield², Tyler Sagendorf³, Daniel Evans², Sameneh Farsijani⁴, Bret Goodpaster⁵, Lauren Sparks⁵ and NANCY LANE⁶, ¹Pacific Northwest National Laboratory, Richland, WA, Richland, WA, ²California Pacific Medical Research Institute, San Francisco, CA, ³Pacific Northwest National Laboratory, Richland, WA, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Translational Research Institute, AventHealth, Orlando, FL, ⁶University of California at Davis, School of Medicine, Sacramento, CA
Background/Purpose: Age-related declines in muscle mass and function are leading causes for hospitalizations and mortality in elderly individuals. The risk of developing knee osteoarthritis also…
Abstract Number: 2585 • ACR Convergence 2025
The effect of prophylactic colchicine use on gene expression in gout
Austin Wheeler¹, Guanqi Lu², Ana Vazquez³, Jeffrey Edberg⁴, Angelo Gaffo⁵, Tate Johnson¹, Michael Duryee¹, James O'Dell¹, Jeff Newcomb¹, Michael Pillinger⁶, Robert Terkeltaub⁷, Ryan Ferguson⁸, Mary Brophy⁸, Tuhina Neogi⁹, Bryant England¹, Ted Mikuls¹, Tony Merriman¹⁰ and Richard Reynolds⁴, ¹University of Nebraska Medical Center, Omaha, NE, ²Michigan State University, East Lansing, MI, ³Michigan State University, Miami, FL, ⁴University of Alabama at Birmingham, Birmingham, AL, ⁵Division of Rheumatology and Clinical Immunology, University of Alabama, Birmingham, AL, USA; Birmingham VA Medical Center, Birmingham, AL, USA, Birmingham, AL, ⁶New York University Grossman School of Medicine, New York,, NY, ⁷Retired, San Diego, CA, ⁸VA Cooperative Studies Program Coordinating Center, Boston, MA, ⁹Boston University School of Medicine, Boston, MA, ¹⁰University of Alabama at Birmingham, Homewood, AL
Background/Purpose: Colchicine is recommended for the treatment and prophylaxis of gout flares and approved for secondary prevention of ischemic cardiovascular disease (CVD). While its primary…
Abstract Number: 1778 • ACR Convergence 2025
Towards an Earlier and Accurate Diagnosis of Connective Tissue Disease-related Interstitial Lung Disease: TGFB Isoform Genes as Upcoming Biomarkers
Verónica Pulito Cueto¹, Joao Carlos Batista-Liz¹, Rebeca Nieto-Nieto², Clara Vaquera-Illescas², Diego San Emeterio-Villar², Daniel Vicente-Mínguez², María Sebastián Mora-Gil², Belén Atienza-mateo³, Ana Serrano-Combarro⁴, David Iturbe-Fernández⁵, Victor M. Mora-Cuesta⁵, Carolina Aguirre-Portilla⁴, Jose M Cifrián⁵, Ricardo Blanco⁴ and Raquel Lopez Mejias¹, ¹IDIVAL, Santander, Spain, ²Immunopathology Group, IDIVAL, Santander, Spain, ³Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander , Spain, PALMA DE MALLORCA/BALEARES, Spain, ⁴Immunopathology Group, IDIVAL and Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Immunopathology Group, IDIVAL and Division of Pneumology, Hospital Universitario Marqués de Valdecilla, Santander, Spain
Background/Purpose: Interstitial lung disease (ILD) is one of the leading cause of mortality in patients with connective tissue diseases (CTDs) [1]. The onset of CTD-ILD…
Abstract Number: 0316 • ACR Convergence 2025
Increased Synovial Inflammation, Xist Escape Gene Expression and Knee Pain in Females with Osteoarthritis
Bella Mehta¹, Miguel Otero², Michael Mazzucco³, Jenelys Ruiz-Ortega⁴, Caryn Hale⁴, Fuadur Omi⁴, Syed Henah Balkhi⁵, Purva Singh³, Samantha Lessard³, Wei Wang⁴, Maryam Aslam⁴, Tristan Maerz⁶, Peter Sculco³, Anne-Marie Malfait⁷, Xiaoshun Li⁸, Yiyuan Wu⁹, Shady Younis¹⁰, William Robinson¹¹, Daniel Ramirez¹², Edward DiCarlo¹² and Dana Orange⁵, ¹Hospital for Special Surgery, Weill Cornell Medicine, Jersey City, NJ, ²Hospital For Special Surgery, New York, ³Hospital For Special Surgery, New York, NY, ⁴The Rockefeller University, New York, ⁵The Rockefeller University, New York, NY, ⁶University of Michigan, Ann Arbor, MI, ⁷Rush University Medical Center, Chicago, ⁸Hospital For Special Surgery, Ridgewood, NY, ⁹Weill Cornell Medicine, New York, NY, ¹⁰Stanford University, Stanford, CA, ¹¹Stanford University, Palo Alto, CA, ¹²Hospital for Special Surgery, Weill Cornell Medicine, New York, NY
Background/Purpose: MRI evidence of synovitis and bone marrow lesions, but not cartilage degeneration associate with pain in osteoarthritis (OA). In this work, we integrated clinical,…
Abstract Number: 2425 • ACR Convergence 2025
Neutrophil Transcriptomics in SLE: Exploring Intrinsic, Ex Vivo Adaptation, and CAR-T Cell Therapy-Induced Changes
Ehsan Dehdashtian¹, Stefania Gallucci², Guangnan Hu³, Dominic Borie⁴ and Roberto Caricchio⁵, ¹UMass Chan Medical School, Worcester, MA, ²Temple University School of Medicine, Worcester, MA, ³UMass Chan School of Medicine, Worcester, MA, ⁴Kyverna Therapeutics, Emeryville, CA, ⁵University of Massachusetts Chan Medical School, Worcester, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by dysregulation of the adaptive and innate immune systems. Neutrophils, key players in innate immunity,…
Abstract Number: 1725 • ACR Convergence 2025
Functional NOTCH4 Variants Drive Vasculopathy and Fibrosis in Systemic Sclerosis.
Urvashi Kaundal¹, Pei-Suen Tsou², Mousumi Sahu³, Mengqi Huang⁴, Steven Boyden⁵, Curtis Woodford⁶, Daniel Shriner⁷, Emilee Stenson⁴¹, Sarah Safran⁸, Yuechen Zhou⁹, Taylor Talley⁴², Kaavya Gudapati⁴³, Xuetao Zhang⁶, Yosuke Kunishita¹⁰, Janet Wang⁴⁴, Ami Shah¹¹, Maureen Mayes¹², Ayo Doumatey¹³, Amy Bentley⁷Janet , Robyn Domsic⁴, Thomas Medsger, Jr¹⁴, Paula Ramos¹⁵, Richard Silver¹⁶, Virginia Steen¹⁷, John Varga², Vivien Hsu¹⁸, Lesley Ann Saketkoo¹⁹, Elena Schiopu²⁰, Jessica Gordon²¹, Lindsey Criswell²², Heather Gladue²³, Chris Derk²⁴, Elana Bernstein²⁵, S. Louis Bridges²¹, Victoria Shanmugam²⁶, Lorinda Chung²⁷, Suzanne Kafaja²⁸, Reem Jan⁴⁵, Marcin TROJANOWSKI²⁹, Avram Goldberg⁴⁶, Benjamin Korman³⁰, James Mullikin³¹, James Thomas³¹, Stefania Dell'orso³², davide Randazzo³³, Adebowale Adeyemo⁷, Elaine Remmers³⁴, Pamela Schwartzberg³⁵, Ivona Aksentijevich³⁶, Charles Rotimi⁷, Fredrick Wigley³⁷, Rong Wang⁶, Francesco Boin³⁸, Dinesh Khanna², Robert Lafyatis⁴, Daniel Kastner³⁹, Pravitt Gourh⁴⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ²University of Michigan, Ann Arbor, MI, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, Bethesda, MD, ⁶Laboratory for Accelerated Vascular Research, Department of Surgery, University of California, San Francisco, San Francisco, CA, san francisco, CA, ⁷Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, New York, NY, ⁹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Pittsburg, PA, ¹⁰National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Rockville, MD, ¹¹Johns Hopkins Rheumatology, Baltimore, MD, ¹²UT Health Houston Division of Rheumatology, Houston, TX, ¹³Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethedsa, MD ¹⁴Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Verona, PA, ¹⁵Emory University School of Medicine, Atlanta, GA, ¹⁶Medical University of South Carolina, Charleston, SC ¹⁷Georgetown University School of Medicine, Washington, DC, ¹⁸Rutgers- RWJ Medical School, South Plainfield, NJ, ¹⁹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ²⁰Division of Rheumatology, Medical College of Georgia at Augusta University, Augusta, GA, Augusta, GA, ²¹Hospital for Special Surgery, New York, NY, ²²NIH/NHGRI, Bethesda, MD, ²³Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²⁴University of Pennsylvania, Philadelphia, PA, ²⁵Columbia University Irving Medical Center, New York, NY, ²⁶Office of Autoimmune Disease Research, Office of Research on Women's Health, Office of the Director, National Institutes of Health, Bethesda, MD, bethesda, MD, ²⁷Stanford University, Stanford, CA, ²⁸UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²⁹BOSTON UNIVERSITY SCHOOL OF MEDICINE, BOSTON, MA, ³⁰University of Rochester, Rochester, NY, ³¹NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³³Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, ³⁴Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³⁵Cell Signaling and Immunity Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ³⁶100, Bethesda, MD, ³⁷Johns Hopkins University, Baltimore, MD, ³⁸Cedars-Sinai Medical Center, Beverly Hills, CA, ³⁹National Human Genome Research Institute, Bethesda, MD, ⁴⁰National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD,⁴¹NIH, Bethesda, MD, ⁴² Spelman College and post-bac National Institutes of Health, Bethesda, MD, ⁴³Georgia Institute of Technology, Alpharetta, GA, ⁴⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Beachwood, OH, ⁴⁵University of Chicago, Chicago, IL, ⁴⁶NYU Langone Health - NYU Hospital for Joint Diseases, Lake Success, NY.

Background/Purpose: Systemic sclerosis (SSc) is characterized by vasculopathy, progressive fibrosis of skin and internal organs, and autoimmunity. Notably, African American (AA) patients with SSc exhibit…
Abstract Number: 0118 • ACR Convergence 2025
Single-cell RNA sequencing of skin reveals vascular dysregulation in antiphospholipid syndrome
Ecem Sevim¹, Sumith Panicker², Gustaf Wigerblad³, Stefania Dell'orso⁴, Sharon Osgood², Leslie Castelo-Soccio⁵, Keisuke Nagao⁶ and Yogendra Kanthi⁷, ¹NIAMS/NIH, Bethesda, MD, ²NHLBI/NIH, Bethesda, ³National Institutes of Health, Stockholm, Sweden, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵NIAMS/NIH, Bethesda, ⁶NIAMS, Bethesda, MD, ⁷National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Antiphospholipid syndrome (APS) is a systemic autoimmune thromboinflammatory disorder defined by persistent antiphospholipid antibodies (aPL) and characterized clinically by macrovascular thrombosis, microvascular disease, and…
Abstract Number: 2224 • ACR Convergence 2025
Failure of Steroid and Antimalarial Therapy to Normalize Placental Interferon and Angiogenic Gene Expression in SLE
Seemal Faisal¹, Alexandra Anderson², Luke Sharrock³, James Tran⁴ and Milena Vukelic⁵, ¹Louisiana State University Health Science Center New Orleans, New Orleans, ²Louisiana State University Health Science Center New Orleans, Phoenix, AZ, ³Louisiana State University Health Science Center, New Orleans, LA, ⁴Louisiana State University Health Science Center, New Orleans, ⁵Rheumatology Fellowship Program Director Louisiana State University, New Orleans, LA
Background/Purpose: Systemic lupus erythematosus (SLE) is associated with an increased risk of placental insufficiency and adverse pregnancy outcomes, even when the disease is clinically quiescent.…
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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