Abstracts tagged "genomics"

Abstract Number: 1871 • ACR Convergence 2024
A Seropositive RA Polygenic Risk Score Does Not Predict Progression to RA in an ACPA Positive Population
Tada Vargas¹, Lauren Vanderlinden², Patrick Carry³, Kristen Demoruelle⁴, Marie Feser¹, Katerina Kechris⁵, Jane Buckner⁶, William Robinson⁷, Gary Firestein⁸, Michael Holers¹, Kevin Deane⁹ and Jill Norris¹⁰, ¹Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ²Colorado School of Public Health, Monument, CO, ³Department of Orthopedics, University of Colorado School of Medicine, Aurora, CO, ⁴University of Colorado Anschutz Medical Campus, Golden, CO, ⁵Department of Biostatistics and Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, ⁶Benaroya Research Institute, Seattle, WA, ⁷Division of Immunology and Rheumatology, Stanford University, and VA Palo Alto Health Care System, Stanford, CA, ⁸University of California, San Diego, San Diego, CA, ⁹University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ¹⁰Colorado School of Public Health, Denver, CO
Background/Purpose: Serum autoantibodies, such as ACPA and RF, are commonly detectable prior to the development of seropositive clinical RA; however, not all individuals with these…
Abstract Number: 0449 • ACR Convergence 2023
Parsing Pathophysiology of Rheumatoid Arthritis-associated Lymphoproliferative Disorders via Whole RNA Transcriptome Analysis: Multi-center Study in Japan
ATSUKO TSUJII¹, KAZUKO SAKAI², SHIRO OHSHIMA¹, YUKIHIKO SAEKI¹, MASATO YAGITA³, TOMOYA MIYAMURA⁴, Masao Katayama⁵, YASUSHI HIRAMATSU⁶, SHINJI HIGA⁷, FUMINORI HIRANO⁸, KENJI ICHIKAWA⁹, NORIYUKI CHIBA¹⁰, TAKAO SUGIYAMA¹¹, ATSUSHI IHATA¹², HIROSHI TSUTANI¹³, KOICHIRO TAKAHI¹⁴, KIYOSHI MIGITA¹⁵, SHUNSUKE MORI¹⁶, NORIE YOSHIKAWA¹⁷, ATSUHISA UEDA¹⁸, SHOUHEI NAGAOKA¹⁹, KEIGO SETOGUCHI²⁰, SHOJI SUGII²¹, ASAMI ABE²², TOSHIAKI SUGAYA²³, HIROYUKI SUGAHARA²⁴, SHINICHIRO TSUNODA²⁴, NORISHIGE IIZUKA²⁵, RYOSUKE YOSHIHARA²⁶, HIROKI YABE²⁷, TOMOAKI FUJISAKI²⁸, EIICHI MORII²⁹, KAZUYOSHI SAITO³⁰, Kiyoshi Matsui³¹, YASUHIKO TOMITA³², HIROSHI FURUKAWA³³, Shigeto Tohma³⁴, KAZUTO NISHIO² and YOSHIHIKO HOSHIDA³⁵, ¹National Hospital Organization (NHO), Osaka Minami Medical Center, Kawachinagano, Japan, ²Kindai University School of Medicine Department of Genome Biology, Sayama, Japan, ³Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan, ⁴NHO Kyushu Medical Center, Fukuoka, Japan, ⁵National Hospital Organization, Nagoya Medical Center, Nagoya, JP, Nagoya, Japan, ⁶Japanese Red Cross Society Himeji Hospital, Himeji, Japan, ⁷Daini Osaka Police Hospital, Osaka, Japan, ⁸NHO Asahikawa Medical Center, Asahikawa, Japan, ⁹Nissei hospital, Sapporo, Japan, ¹⁰NHO Morioka Medical Center, Morioka, Japan, ¹¹NHO Shimoshizu Hospital, Yotsukaido, Japan, ¹²NHO Yokohama Medical Center, Yokohama, Japan, ¹³NHO Awara Hospital, Awara, Japan, ¹⁴NHO Osaka Toneyama Medical Center, Toyonaka, Japan, ¹⁵Department of Rheumatology Fukushima Medical University School of Medicine, Fukushima, Japan, ¹⁶NHO Kumamoto Saishun Medical Center, Koshi, Japan, ¹⁷NHO Miyakonojo Medical Center, Miyakonojo, Japan, ¹⁸Yokohama City University Medical Center, Yokohama, Japan, ¹⁹Yokohama Minami Kyosai Hospital, Yokohama, Japan, ²⁰Tokyo Metropolitan Cancer and Infectious diseases Center Komagome Hospital / Tokyo Metropolitan Komagome Hospital, Tokyo, Japan, ²¹Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan, ²²Niigata Rheumatic Center, Shibata, Japan, ²³Fuchu Hospital, Izumi, Japan, ²⁴Sumitomo Hospital, Osaka, Japan, ²⁵Kishiwada City Hospital, Kishiwada, Japan, ²⁶Hyogo Prefectural Kakogawa Hospital, Kakogawa, Japan, ²⁷Ako Central Hospital, Ako, Japan, ²⁸Matsuyama Red Cross Hospital, Matsuyama, Japan, ²⁹Osaka University, Suita, Japan, ³⁰University of Occupational and Environmental Health, Kitakyushu, Japan, ³¹Hyogo Medical University, Nishinomiya, Japan, ³²International University of Health and Welfare, Otawara City, Japan, ³³NHO Tokyo National Hospital, Kiyose, Japan, ³⁴NHO Tokyo National Hospital, Dallas, TX, ³⁵National Hospital Organization Osaka Minami Medical Center, Kawachinagano, Japan
Background/Purpose: Lymphoproliferative disorders (LPD) in rheumatoid arthritis (RA) (RA-LPD) have unique pathophysiological features. More than half of the cases of RA-LPD undergo spontaneous regression after…
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…

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 ET on November 14, 2024. 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].