Abstracts tagged "genomics"

Abstract Number: 1759 • ACR Convergence 2023
Runx1 Is a Key Transcription Factor That Drives Synovial Fibroblast Pathogenicity in Rheumatoid Arthritis
Christopher Mahony¹, Samuel Kemble², Paulynn Chin¹, Cesar Prada³, Annie Hackland¹, Patricia Reis-Nisa¹, Lucy-Jayne Marsh¹, Peter Keane¹, Constanze Bonifer¹, Christopher Buckley⁴, Stevephen Sansom⁵, Mark Coles⁴ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University Birmingham, Rugeley, United Kingdom, ³The Kennedy Institute, Oxford, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom, ⁵Kennedy Institute of Rheumatology, Oxford, United Kingdom
Background/Purpose: Fibroblasts are key effector cells in rheumatoid arthritis (RA) underpinning joint inflammation and damage. Synovial tissue fibroblasts are heterogenous and acquire pathogenic cell states…
Abstract Number: 0014 • ACR Convergence 2023
The 330 Genetic Risk Loci of Systemic Lupus Erythematosus (SLE) Now Known Are Consonant with Multiple Causal Mechanisms Involving Epstein-Barr Virus (EBV)-Encoded Transcription Co-factors (TFs) in EBV-Infected B Cells
Viktoryia Laurynenka¹, Xiaoting Chen², sreeja Parameswaran², Leah Kottyan², Matthew Weirauch², Iouri Chepelev³, Kenneth Kaufman³ and John Harley³, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Association of EBV infection with SLE, data suggesting an anti-EBNA1 molecular mimicry fostering SLE autoimmunity, and mechanisms in EBV infected B cells support a…
Abstract Number: 0600 • ACR Convergence 2023
Identification of Subsets of SLE Patients Responsive to Baricitinib by Transcriptomic Analysis at Baseline
Prathyusha Bachali¹, Amrie Grammer² and Peter Lipsky², ¹AMPEL BioSolutions, Redmond, WA, ²AMPEL BioSolutions, Charlottesville, VA
Background/Purpose: Baricitinib is an inhibitor of Jak1 approved for treatment of rheumatoid arthritis, atopic dermatitis, alopecia areata and Covid-19. A phase 2 trial showed success…
Abstract Number: 1783 • ACR Convergence 2023
Integrative Functional Genomics Points to Natural Killer Cells as Key Drivers in the Pathogenesis of Ankylosing Spondylitis
Marcos Chiñas¹, Daniela Fernandez-Salinas¹, Vitor Aguiar¹, Victor Caballero-Nieto², Micah Lefton³, Joerg Ermann⁴ and Maria Gutierrez-Arcelus¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Montpellier, France, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not…
Abstract Number: 0016 • ACR Convergence 2023
Role of TP53 in Inflammatory Reprogramming of Rheumatoid Arthritis Synovial Fibroblasts
Anil Singh and Salahuddin Ahmed, Washington State university, Spokane, WA
Background/Purpose: TP53, a tumor-suppressor protein known as the guardian of the genome, plays a critical role in regulating genomic stability and cellular function. When TP53…
Abstract Number: 0733 • ACR Convergence 2023
Global Identification of Lupus Genetic Risk Variants Facilitating the Type I Interferon Pathway Through CRISPR-based Genomic Screening
Guojun Hou¹, Xinyi Zhu¹, Yutong Zhang¹, Zhaorui Cheng¹ and Nan Shen², ¹Shanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University (SJTUSM), Shanghai, China, ²Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background/Purpose: Genome-Wide Association Studies (GWAS) have unveiled over 1000 risk variants for lupus, predominantly situated in non-coding genomic regions. Their functional roles, especially their potential…
Abstract Number: 1785 • ACR Convergence 2023
Machine Learning Models Identify Gut Microbiota That Predict Chronicity in Reactive Arthritis
Prakashini MV¹, Soumendu Mahapatra², Krushna Chandra Murmu², Rasmita Mishra², Prasanta Padhan¹, Punit Prasad², Ramnath Misra³ and Sakir Ahmed⁴, ¹Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, India, ²Institute of Life Sciences, Bhubaneswar, India, ³Kalinga Institute of Medical Sciences, KIIT University, Lucknow, India, ⁴Kalinga Institute of Medical Sciences, Bhubaneswar, India
Background/Purpose: Reactive arthritis (ReA) is the unique infection-triggered spondyloarthritis (SpA). Undifferentiated peripheral SpA (UpSpA) is similar but without previous infection, or psoriasis or inflammatory bowel…
Abstract Number: 0017 • ACR Convergence 2023
Xist Ribonucleoproteins Promote Female Sex-biased Autoimmunity
Diana Dou¹, Yanding Zhao¹, Julia Belk¹, Yang Zhao¹, Kerriann Casey², Derek Chen¹, Rui Li¹, Bingfei Yu¹, Suhas Srinivasan¹, Brian Abe¹, Katerina Kraft¹, Ceke Hellström³, Ronald Sjöberg⁴, Sarah Chang⁵, Allan Feng⁵, Daniel Goldman⁶, Ami Shah⁷, Michelle Petri⁶, Lorinda Chung⁸, David Fiorentino⁹, Emma Lundberg¹⁰, Anton Wutz¹¹, Paul Utz⁵ and Howard Chang¹, ¹Center for Personal Dynamic Regulomes and Program in Epithelial Biology, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, ²Department of Comparative Medicine, Stanford University, Stanford, CA, ³Autoimmunity and Serology Profiling, Division of Affinity Proteomics, Department of Protein Science, KTH Royal Institute of Technology, SciLifeLab, Stockholm, Sweden, ⁴Department of Protein Science, SciLifelab, KTH Royal Institute of Technology, Stockholm, Sweden, ⁵Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, ⁶Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ⁷Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Ellicott City, MD, ⁸Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Woodside, CA, ⁹Department of Dermatology, Stanford University School of Medicine, Menlo Park, CA, ¹⁰Departments of Bioengineering and Pathology, Stanford University, Stanford, CA, ¹¹Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Hönggerberg, Zurich, Switzerland
Background/Purpose: Autoimmune diseases disproportionately affect females more than males. The XX sex chromosome complement is strongly associated with susceptibility to autoimmunity. Xist long noncoding RNA…
Abstract Number: 0736 • ACR Convergence 2023
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissue Using Large Single-cell Computational Omics
Juan Vargas¹, Ian Mantel², Nirmal Banda¹, Anna Helena Jonsson³, Kevin Wei⁴, Deepak Rao³, Susan Goodman⁵, Kevin Deane¹, The Accelerating Medicines Partnership SLE/RA¹, Jennifer Anolik⁶, Michael Brenner⁴, Soumya Raychaudhuri³, Jennifer Seifert⁷, Michael Holer¹, Laura Donlin⁵ and Fan Zhang⁸, ¹University of Colorado Anschutz Medical Campus, Aurora, CO, ²Weill Cornell Medicine, New York, NY, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Hospital for Special Surgery, New York, NY, ⁶University of Rochester Medical Center, Rochester, NY, ⁷the Accelerating Medicines Partnership (AMP) RA/SLE Network, Boston, MA, ⁸University of Colorado, Aurora, CO

Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in autoimmune disease pathogenesis. In patients with rheumatoid arthritis…
Abstract Number: 1833 • ACR Convergence 2023
Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores
Jeffrey Rosenfeld¹, Greta Linse², Sally Slipher², Candace Flint³, Annie Iserson³, Herbert Harris⁴, Jean Engels³, Gregory Sullivan⁵ and Seth Lederman⁶, ¹Tonix Pharmaceuticals, Chatham, NJ, ²Montana State University, Bozeman, MT, ³Tonix Pharmaceuticals, New York, NY, ⁴Tonix Pharmaceuticals, Chapel Hill, NC, ⁵Tonix Pharmaceuticals Inc, Chatham, NJ, ⁶Tonix Pharmaceuticals, South Dartmouth, MA
Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…
Abstract Number: 0018 • ACR Convergence 2023
Alternative Splicing and Expected Protein Changes in Muscle Biopsies from Different Types of Idiopathic Inflammatory Myopathies
Rayan Najjar¹, Iago Pinal-Fernandez², Andrew Mammen³ and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²National Institutes of Health, Bethesda, MD, ³NIH, Bethesda, MD
Background/Purpose: Alternative splicing of mRNA results in important biological impacts with increasing evidence implicating it in the pathology of autoimmune diseases. However, it is understudied…
Abstract Number: 0769 • ACR Convergence 2023
Development and Validation of a Combined Clinical and Genetic Risk Score for Interstitial Lung Disease in a Large, Multicenter, Prospective Rheumatoid Arthritis Cohort
Austin Wheeler¹, Joshua Baker², Yangyuna Yang¹, Punyasha Roul¹, K Wysham³, Grant Cannon⁴, Gary Kunkel⁵, Gail Kerr⁶, Dana Ascherman⁷, Paul Monach⁸, Andreas Reimold⁹, Jill Poole¹, Tony Merriman¹⁰, Ted R Mikuls¹¹ and Bryant England¹, ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³VA Puget Sound/University of Washington, Seattle, WA, ⁴University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁵University of Utah, Salt Lake City, UT, ⁶Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ⁷University of Pittsburgh, Pittsburgh, PA, ⁸VA Boston Healthcare System, Boston, MA, ⁹University of Texas Southwestern Medical Center, Dallas, TX, ¹⁰University of Alabama at Birmingham, Birmingham, AL, ¹¹Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is an extra-articular manifestation of RA that causes substantial morbidity and mortality. Although some clinical and genetic risk…
Abstract Number: 2105 • ACR Convergence 2023
Cohort-wide Immuno-phenotype Deconvolute Immunological and Clinical Heterogeneity Across Autoimmune Rheumatic Diseases
Hiroaki Tanaka¹, Yukinori Okada², Shingo Nakayamada¹, Yusuke Miyazaki³, Kyuto Sonehara⁴, Shinichi Namba⁵, Suguru Honda⁶, Yuya Shirai⁷, Kenichi Yamamoto⁵, Katsunori Ikari⁸, Masayoshi Harigai⁹, KOSHIRO SONOMOTO¹⁰ and Yoshiya Tanaka¹, ¹University of Occupational and Environmental Health, Kitakyushu, Japan, ²University of Tokyo / Osaka University / RIKEN, Tokyo, Japan, ³The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Kiakyusyu Fukuoka, Japan, ⁴University of Tokyo, Tokyo, Japan, ⁵Osaka University, Osaka, Japan, ⁶Tokyo Women's Medical University, Tokyo, Japan, ⁷Osaka University, Suita, Japan, ⁸Tokyo Women's Medical University School of Medicine, Tokyo, Japan, ⁹Tokyo Women's Medical University, Division of Rheumatology, Department of Internal Medicine, Tokyo, Japan, ¹⁰University of Occupational and Environmental Health, Beppu, Japan
Background/Purpose: Autoimmune rheumatic diseases (AIRDs) are systemic but heterogeneous diseases characterized by orchestration of disrupted self-tolerance of immune systems. We face a challenge in characterizing…
Abstract Number: 0019 • ACR Convergence 2023
Use of High-plex Data Reveals Novel Insights into the Temporal Artery Processus of Giant Cell Arteritis
Simon Parreau¹, Elsa Molina², Stéphanie Dumonteil¹, Radjiv Goulabchand³, Thomas Naves⁴, Melanie Bois⁵, Anne-Laure Fauchais¹, Eric Liozon⁶, Marie-Odile Jauberteau⁴, Cornelia M. Weyand⁷ and Kim-Heang Ly¹, ¹Dupuytren Hospital, Limoges, France, ²Next Generation Sequencing Core, Salk Institute for Biological Studies, La Jolla, CA, ³University of California San Diego, La Jolla, CA, ⁴INSERM U1308, Limoges, France, ⁵Mayo Clinic, Rochester, MN, ⁶Department of Internal Medicine, University Hospital of Limoges, Limoges Cedex, Limoges, France, ⁷Mayo Clinic School of Medicine and Stanford University, Rochester, MN
Background/Purpose: Uncover the key coding genes to define new biomarkers or pathways associated with GCA by performing the first in situ spatial profiling characterization of…
Abstract Number: 0873 • ACR Convergence 2023
FOXO Activators as Drugs for Osteoarthritis
Ichiro Kurakazu, Merissa Olmer, Kevin Myers and Martin K Lotz, Scripps Research Institute, La Jolla, CA
Background/Purpose: Forkhead box O (FOXO) proteins are a family of transcription factors involved in lifespan, aging, and autophagy. FOXO are essential for maintaining cartilage homeostasis…

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