Abstracts tagged "Gene Expression"

Abstract Number: 1867 • ACR Convergence 2025
Deciphering the Molecular Landscape of the Small Intestine in Early and Late SSc Using High-Definition Spatial Transcriptomics
Laura Much¹, Elena Pachera², Havard Fretheim³, Knut EA Lundin⁴, Lumeng Li⁵, Astrid Hofman⁶, Pietro Bearzi⁵, Philip Stauffer¹, Michael Scharl⁷, Oyvind Molberg⁸, Oliver Distler⁹ and Anna-Maria Hoffmann-Vold³, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ²University Hospital Zurich, Zurich, Switzerland, ³Oslo University Hospital, Oslo, Norway, ⁴Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway, ⁵Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zürich, Switzerland, ⁶Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zurich, Switzerland, ⁷Department of Gastroenterology and Hepatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁸Oslo University Hospital, Oslo, Nepal, ⁹Department of Rheumatology, University Hospital Zurich, University of Zurich, Switzerland, Zurich, Switzerland
Background/Purpose: SSc frequently results in serious gastrointestinal (GI) complications that contribute to increased morbidity and mortality. Understanding the molecular changes across different disease stages is…
Abstract Number: 0967 • ACR Convergence 2025
Single-Cell RNA Sequencing Reveals a Prominent Pro-Inflammatory Gene Signature of Dermal Fibroblasts in Pre-Stages of SSc
Lumeng Li¹, Elena Pachera², Rucsandra Dobrota³, Sinziana Muraru⁴, Kristina Bürki³, Carina Mihai⁵, Muriel Elhai⁶, Laura Much⁷, Astrid Hofman³, Pietro Bearzi¹, Anna-Maria Hoffmann-Vold⁸ and Oliver Distler⁹, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zürich, Switzerland, ²University Hospital Zurich, Zurich, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zurich, Switzerland, ⁴University of Zurich, University Hospital Zurich, Zürich, Switzerland, ⁵University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁶University Hospital zurich, Zürich, Switzerland, ⁷Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁸Oslo University Hospital, Oslo, Norway, ⁹Department of Rheumatology, University Hospital Zurich, University of Zurich, Switzerland, Zurich, Switzerland
Background/Purpose: The poor prognosis of SSc patients demands an urgent need to prevent disease onset. Recently, we reported a global pro-inflammatory gene signature of dermal…
Abstract Number: 0043 • ACR Convergence 2025
Single-cell and Spatial Transcriptomic Profiling of Muscle Reveals Inflammatory Mechanisms in Anti-glycyl tRNA Synthetase Syndrome
Takuya Harada¹, Hiroyuki Yamashita¹, Ami Isoda¹, Ken Kawaue¹, Mayuko Hayashi¹, Yutaro Misawa¹, Aruto Yamamoto¹, Miyu Wakatsuki¹, Yuya Akiyama¹, Setsuko Oyama¹, Kyoko Motomura¹, Hiroyuki Takahashi¹, Akiko Mitsuo², Yuichi Goto³, Eisei Noiri³ and Hiroshi Kaneko¹, ¹Division of Rheumatic Diseases, National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan, ²Division of Clinical Laboratory Medicine, National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan, ³National Center Biobank Network, Tokyo, Japan
Background/Purpose: We characterized the spatial distribution of immune cells and identified hub genes within activated molecular networks in key immune cell populations, based on the…
Abstract Number: 1866 • ACR Convergence 2025
Elucidating gastric pathology in systemic sclerosis using single-cell RNA sequencing
kristina clark¹, Moustafa Attar², Matthias Friedrich³, Charles Murray⁴, Alexander Clarke² and Christopher Denton⁵, ¹Kennedy Institute of Rheumatology, University of Oxford, London, United Kingdom, ²Kennedy Institute of Rheumatology, University of Oxford, Oxford, United Kingdom, ³Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom, ⁴Royal Free Hospital NHS Trust, London, United Kingdom, ⁵University College London, UK, London, United Kingdom
Background/Purpose: Gastrointestinal (GI) involvement in systemic sclerosis (SSc) affects over 90% of patients and represents a large clinical burden and unmet need. Unlike the skin…
Abstract Number: 0964 • ACR Convergence 2025
A Single-Cell Atlas Reveals Dermal Endothelial Heterogeneity and Disease-Specific Pathways in Autoimmune Disorders
Haoyu Pan¹, Jinyi Qian¹, Shuyi Yu¹, Zhixia Yang¹, Jason S. Knight², Eliza Tsou³ and Hui Shi⁴, ¹Department of Rheumatology and Immunology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, Shanghai, Shanghai, China (People's Republic), ²University of Michigan, Ann Arbor, MI, ³Division of Rheumatology, Department of Internal Medicine, University of Michigan; Ann Arbor, Michigan, USA., Ann Arbor, MI, ⁴Shanghai Jiaotong University Affiliated Ruijin Hospital, Shanghai, China (People's Republic)
Background/Purpose: Autoimmune conditions with skin involvement, including scleroderma (SSc), antiphospholipid syndrome (APS), systemic lupus erythematosus (SLE) and psoriasis (PSO), involve intricate interactions between immune cells…
Abstract Number: 0035 • ACR Convergence 2025
Clinical and Transcriptomic Heterogeneity in Patients With RA: A Multi-Centric International Study of Anti-TNF Response
Maryna Borshchivska¹, Thibault Helleputte¹, Laurent Meric de Bellefon², Silvana di Romana³, Elsa Vieira-Sousa⁴, Vasco Romão⁴, João Eurico Fonseca⁵, Alla Ishchenko⁶, Patrick Verschueren⁶, Ruth Wittoek⁷, Peggy jacques⁷, Dirk Elewaut⁸, Bernard Lauwerys⁹ and Patrick Durez¹⁰, ¹DNAlytics, Louvain-la-Neuve, Belgium, ²Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Rheumatologie, Brussels, Belgium, ³Department of Rheumatology, Saint Pierre University Hospital, Brussels, Belgium, ⁴Faculdade Medicina, Universidade de Lisboa, ULS Santa Maria, Centro Académico Medicina de Lisboa, Lisboa, Portugal, ⁵Faculdade Medicina, Universidade de Lisboa, ULS Santa Maria, Centro Académico Medicina de Lisboa, Lisboa, Lisboa, Portugal, ⁶Rheumatology, University Hospital Leuven and Skeletal Biology and Engineering Research Centre, KU Leuven, Leuven, Belgium, ⁷VIB Center for Inflammation Research, Ghent University and Department of Rheumatology, Ghent University Hospital, Ghent, Belgium, ⁸VIB Center for Inflammation Research, and Ghent University Hospital, Department of Rheumatology, Ghent, Belgium, ⁹Systemic and Inflammatory Rheumatic Diseases Section, Institute of Experimental and Clinical Research (IREC), UCLouvain, Brussels, Belgium, ¹⁰Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Rheumatologie, Brussels, Brussels Hoofdstedelijk Gewest, Belgium

Background/Purpose: Rheumatoid arthritis (RA) is a chronic inflammatory disease that can lead to joint damage and disability. Although methotrexate is the standard first-line treatment, about…
Abstract Number: 1849 • ACR Convergence 2025
Time-course RNA sequencing analysis of longitudinal peripheral blood samples to elucidate the factors determining treatment resistance in systemic lupus erythematosus
Shuji Sumitomo¹, Hideki Oka², Takeshi Iwasaki³ and Koichiro Ohmura⁴, ¹Kobe City Medical Center General Hospital, Kobe city, Hyogo, Japan, ²Kobe City Medical Center General Hospital, Kobe, Japan, ³Kyoto University, Kyoto, Japan, ⁴Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan
Background/Purpose: Systemic lupus erythematosus (SLE) encompasses a subset of patients who exhibit resistance to standard treatments, posing a significant challenge to achieving remission. Our study…
Abstract Number: 0959 • ACR Convergence 2025
Longitudinal Multiomic Study of Skin, Peripheral Blood, and Serum: Serum Proteome Reflects the Disease Process at the End-organ Level and Predicts the Course of Modified Rodnan Skin Score
Bich Na Choi¹, Claudia Pedroza², Brian Skaug³, Maureen Mayes⁴ and Shervin Assassi⁵, ¹UTHealth Houston Institute for Clinical Research & Learning Health Care, Houston, TX, ²UTHealth Houston Institute for Clinical Research & Learning Health Care, Texas, TX, ³UTHealth Houston Division of Rheumatology, Houston, TX, ⁴UT Health Houston Division of Rheumatology, Houston, TX, ⁵Division of Rheumatology, UTHealth Houston, Houston, Texas, USA, Houston, TX
Background/Purpose: Clinically useful biomarkers for systemic sclerosis (SSc) are needed. While obtaining samples from affected organs like the skin and lungs is invasive and cannot…
Abstract Number: 0029 • ACR Convergence 2025
A Novel B Cell Subpopulation Characteristic of IgA Vasculitis Identified by Single-Cell RNA Sequencing
Joao Carlos Batista-Liz¹, María Sebastián Mora-Gil², Evan Troendle³, Oisin Cappa³, Maite Leonardo⁴, Ana Peñalba⁴, Luis mARTIN pENAGOS⁵, Ligia Gabrie-Rodriguez⁶, Rafael Gálvez Sánchez⁶, Jose Luis Callejas⁷, Belen Sevilla⁸, Diego de Argila⁹, Esther Vicente-Rabaneda⁹, Santos Castañeda¹⁰, David Simpson³, Ricardo Blanco¹¹, Verónica Pulito Cueto¹ and Raquel Lopez Mejias¹, ¹IDIVAL, Santander, Spain, ²Immunopathology Group, IDIVAL, Santander, Spain, ³Queens University, Wellcome-Wolfson Institute for Experimental Medicine, Belfast, United Kingdom, ⁴Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Immunopathology Group, IDIVAL and Division of Nephrology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁶Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander , Spain, Santander, Spain, ⁷Department of Internal Medicine, Hospital San Cecilio, Granada, Spain, ⁸Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ⁹Hospital Universitario de la Princesa, Madrid, Spain, ¹⁰Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ¹¹Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain, Santander, Cantabria, Spain
Background/Purpose: IgA vasculitis (IgAV) is a systemic small-vessel vasculitis characterized by immune complex deposition containing aberrantly glycosylated IgA1. While its clinical manifestations are well defined…
Abstract Number: 1845 • ACR Convergence 2025
Immune Cell Profiles and Transcriptomic Signatures of Atherosclerosis in Systemic Lupus Erythemathosus
Rodolfo Martinez-Canales¹, Andres M. Ortiz-Rios², Braulio R. Avalos-Garcia², Eva Abigaid Galindo-Calvillo², Mario Cesar Salinas-Carmona¹, Noe Macias-Segura¹, Lorena Perez-Barbosa², Dionicio A. Galarza-Delgado³ and Cassandra Michele Skinner-Taylor², ¹Immunology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ²Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ³Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Mexico
Background/Purpose: Systemic lupus erythematosus (SLE) significantly increases the risk of premature atherosclerosis, contributing to long-term morbidity and mortality. Traditional cardiovascular risk factors do not fully…
Abstract Number: 0944 • ACR Convergence 2025
L-sepiapterin treatment reduces renal cortical gene expression associated with oxidative stress and fibrosis in NZM2410 murine lupus nephritis
Dayvia Russell¹, Soroush Moradi², Suganya Subramanian², Silvia Vaena², Sandra Mungaray², Stanley Hoffman², Stefano Berto² and Jim Oates², ¹Ralph H. Johnson VA, Charleston, SC, ²Medical University of South Carolina, Charleston, SC
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease of endothelial (EC) dysfunction. We hypothesize that much of this dysfunction stems from uncoupling of endothelial nitric…
Abstract Number: 1834 • ACR Convergence 2025
Integrative Bioinformatics Analysis Reveals Key Genes and Immune Profiles Associated with Preeclampsia in Lupus Pregnancy
Rodolfo Martinez-Canales¹, Eva Abigaid Galindo-Calvillo², Andres M. Ortiz-Rios², Braulio R. Avalos-Garcia², Lorena Perez-Barbosa², Dionicio A. Galarza-Delgado³, Cassandra Michele Skinner-Taylor², Mario Cesar Salinas-Carmona¹ and Noe Macias-Segura¹, ¹Immunology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ²Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ³Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Mexico
Background/Purpose: Preeclampsia (PE) is a serious complication of pregnancy associated with significant maternal and fetal outcomes. Systemic lupus erythematosus (SLE) significantly increases the risk of…
Abstract Number: 0846 • ACR Convergence 2025
A Longitudinal Transcriptomic Study of Mycophenolate Mofetil in Systemic Sclerosis Skin with Clinical and Molecular Stratification
Rezvan Parvizi¹, Zhiyun Gong², Natania Field³, Helen Jarnagin², Dillon Popovich², Monica Yang⁴, Kathleen Aren⁵, Mary Carns⁶, Isaac Goldberg⁷, Lorinda Chung⁸, Vivien Goh⁹, Zsuzsanna McMahan¹⁰, Tammara Wood¹¹, Dinesh Khanna¹², Monique Hinchcliff¹³ and Michael Whitfield¹⁴, ¹Dartmouth, lebanon, NH, ²Dartmouth College, Lebanon, NH, ³Northwestern Memorial Hospital, Chicago, IL, ⁴UCSF, San Francisco, CA, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Northwestern University, Chicago, IL, ⁷Wayne State University, Detroit, ⁸Stanford University, Stanford, CA, ⁹Northwestern, Chicago, ¹⁰UT Health Houston, Houston, TX, ¹¹Dartmouth, Hanover, NH, ¹²University of Michigan, Ann Arbor, MI, ¹³Yale School of Medicine, Westport, CT, ¹⁴Geisel School of Medicine, Lebanon, NH
Background/Purpose: Mycophenolate Mofetil (MMF) is the most commonly prescribed immunosuppressive treatment for patients diagnosed with diffuse cutaneous systemic sclerosis (dcSSc). Here, we analyzed skin gene…
Abstract Number: 1821 • ACR Convergence 2025
Transcriptiomics of tear RNA from children with active and inactive chronic anterior uveitis
Donna Do¹, Brandon Michalidas², Mariia Pavlenko³, Alexandra Duell², Sheila Angeles-Han⁴ and Grant Schulert², ¹Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children`s Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Chronic anterior uveitis (CAU) is a potentially sight-limiting complication of pediatric rheumatic diseases, including juvenile idiopathic arthritis. However, the underlying inflammatory biology of CAU…
Abstract Number: 0823 • ACR Convergence 2025
Longitudinal model of paired peripheral blood CITE-seq and skin scRNA-seq data in juvenile systemic sclerosis (jSSc) patients following autologous stem cell transplant (ASCT) reveals reduced expression of SSc marker genes
Julia Elrod¹, Theresa hutchins², Anwesha Sanyal², Paul Szabolcs², Paulina Horvei², Jon Li², F. William Townes¹ and Kathryn Torok², ¹Carnegie Mellon, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Juvenile systemic sclerosis (jSSc) is a rare, life-threatening autoimmune disease characterized by fibrosis and immune dysregulation. Autologous stem cell transplant (ASCT) is an emerging…

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