ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 1118 • ACR Convergence 2022

    Monocyte Transcriptomic Analysis Uncovers Heterogeneous Gene Expression Profiles in Systemic Lupus Erythematous (SLE) with and Without Subclinical Atherosclerosis

    Laurel Woodridge1, Elvira Chocano Navarro2, George Robinson1, Paul Ashford1, Kirsty Waddington3, Anisur Rahman4, Christine Orengo5, Ines Pineda-Torra6 and Elizabeth Jury1, 1University College London, London, United Kingdom, 2VIHR, Barcelona, Spain, 3University College London (alumni), London, United Kingdom, 4Centre for Rheumatology, Department of Medicine, University College London, London, United Kingdom, 5ISMB / UCL, London, United Kingdom, 6Cabimer, Sevilla, Spain

    Background/Purpose: A leading cause of mortality in SLE is cardiovascular disease (CVD) through accelerated atherosclerosis: the build-up of cells and lipids in the vascular wall.…
  • Abstract Number: 1734 • ACR Convergence 2022

    Identification of Sjögren’s Disease-Associated T Cell Receptors Through Deep Sequencing and Single-Cell Transcriptomics

    Ananth Aditya Jupudi1, Michelle Joachims1, Christina Lawrence1, Charmaine Lopez-Davis1, Bhuwan Khatri1, Astrid Rasmussen1, Lida Radfar2, Kiely Grundahl1, R. Hal Scofield2, Judith James1, Joel Guthridge1, Christopher Lessard1, Linda F. Thompson1 and A. Darise Farris1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2University of Oklahoma Health Sciences Center, Oklahoma City, OK

    Background/Purpose: Sjögren's disease (SjD) is a chronic rheumatic autoimmune disorder that primarily targets the lacrimal and salivary glands (SG) resulting in dry eyes and dry…
  • Abstract Number: 1119 • ACR Convergence 2022

    Investigating Macrophage Heterogeneity in the Esophagus and Lungs of SSc Patients

    Hadijat Makinde1, Carla Cuda1, Miranda Gurra1, Mary Carns2, Kathleen Aren2, Gaurav Gadhvi1, Salina Dominguez1, Jane Dematte3, Darren Brenner4, John Pandolfino5, G. R. Scott Budinger4, Deborah Winter6 and Harris Perlman1, 1Northwestern University, Chicago, IL, 2Northwestern University Division of Rheumatology, Chicago, IL, 3Northwestern University, Elmhurst, IL, 4Northwestern University Feinberg School of Medicine, Chicago, IL, 5Northwestern University, Feinberg School of Medicine, Wilmette, IL, 6Northwestern University, Skokie, IL

    Background/Purpose: Our group has made important contributions to an emerging understanding of monocytes and macrophages as central to SSc pathogenesis. There are numerous studies that…
  • Abstract Number: 1851 • ACR Convergence 2022

    Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients

    Beibei Zu1, rongrong wang2, Xiaorou Wang3, Bingqing Zhang4, Na Xu4, Chengjin Huang4, Min Shen5 and Xuejun Zeng4, 1Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, 2Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, 3Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, 4Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, 5Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China

    Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
  • Abstract Number: 1126 • ACR Convergence 2022

    Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis

    Urvashi Kaundal1, Emilee Stenson1, Mousumi Sahu1, Krishan Kumar Thakur1, Janet Wang1, Ami Shah2, Maureen Mayes3, Ayo Doumatey4, Amy Bentley4, Daniel Shriner4, Robyn Domsic5, Thomas Medsger6, Paula Ramos7, Richard Silver7, Virginia Steen8, John Varga9, Vivien Hsu10, Lesley Ann Saketkoo11, Elena Schiopu12, Dinesh Khanna13, Jessica Gordon14, Lindsey Criswell15, Heather Gladue16, Chris Derk17, Elana Bernstein18, S. Louis Bridges, Jr.14, Victoria Shanmugam19, Lorinda Chung20, Suzanne Kafaja21, Reem Jan22, Marcin Trojanowski23, Avram Goldberg24, Benjamin Korman25, Jim Mullikin4, Stefania Dell'Orso1, Adebowale Adeyemo4, Charles Rotimi4, Elaine Remmers4, Daniel Kastner4, Fredrick Wigley26, Francesco Boin27 and Pravitt Gourh28, 1National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 2Johns Hopkins Rheumatology, Baltimore, MD, 3Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, 4National Human Genome Research Institute, Bethesda, MD, 5University of Pittsburgh, Pittsburgh, PA, 6University of Pittsburgh School of Medicine, Pittsburgh, PA, 7Medical University of South Carolina, Charleston, SC, 8Georgetown University School of Medicine, Washington, DC, 9University of Michigan, Ann Arbor, MI, 10Rutgers-RWJ Medical School, South Plainfield, NJ, 11University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, 12Michigan Medicine, Ann Arbor, MI, 13Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, 14Hospital for Special Surgery, New York, NY, 15National Human Genome Research Institute, NIH, Bethesda, MD, 16Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, 17University of Pennsylvania, Philadelphia, PA, 18Columbia University, New York, NY, 19George Washington University, Great Falls, VA, 20Stanford University, Stanford, CA, 21UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, 22University of Chicago, Chicago, IL, 23Boston University School of Medicine, Boston, MA, 24NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, 25University of Rochester, Rochester, NY, 26Johns Hopkins University, Baltimore, MD, 27Cedars-Sinai Medical Center, Los Angeles, CA, 28National Institutes of Health, Bethesda, MD

    Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…
  • Abstract Number: 2164 • ACR Convergence 2022

    Profibrotic Alveolar Macrophages as a Potential Biomarker in Systemic Sclerosis-associated Interstitial Lung Disease

    Nikolay Markov1, Karolina Senkow1, Anthony Esposito2, Jonathan Puchalski3, Mridu Gulati3, Erica Herzog3, Danielle Antin-Ozerkis4, Mary Carns5, Alyssa Williams6, Nic Page6, Alexander Misharin1 and Monique Hinchcliff7, 1Northwestern University Feinberg School of Medicine, Chicago, IL, 2Brigham and Women's Hospital, Department of Medicine, Boston, MA, 3Yale School of Medicine, New Haven, CT, 4Section of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT, 5Northwestern University Division of Rheumatology, Chicago, IL, 6Yale University, New Haven, CT, 7Yale School of Medicine, Westport, CT

    Background/Purpose: Interstitial lung disease (ILD) is a leading cause of death in patients with systemic sclerosis (SSc). Previously, profibrotic monocyte-derived alveolar macrophages (MoAM) expressing (SPP1,…
  • Abstract Number: 0014 • ACR Convergence 2022

    The Expanded CD21 Low B Cell Subpopulation in Ankylosing Spondylitis Consists Mainly of Antigen-Inexperienced Cells

    Rick Wilbrink1, Linda van der Weele2, Anneke Spoorenberg1, Niek De Vries2, Frans Kroese1 and Gwenny Verstappen1, 1University Medical Center Groningen, Groningen, Netherlands, 2University Medical Center Amsterdam, Amsterdam, Netherlands

    Background/Purpose: The role of B cells in the pathogenesis of ankylosing spondylitis (AS) remains relatively understudied. Nevertheless, available evidence shows presence of B cells at…
  • Abstract Number: 1128 • ACR Convergence 2022

    The Causal Association Between Osteoarthritis and Common Comorbidities: A Mendelian Randomisation Study

    William Thompson1, Subhashisa Swain2, Sizheng Zhao3, Anne Kamps4, Carol Coupland5, Chang-Fu Kuo6, Michael Doherty5 and Weiya Zhang5, 1University of Nottingham, Exeter, United Kingdom, 2University of Oxford, Oxford, United Kingdom, 3The University of Manchester, Manchester, United Kingdom, 4Erasmus University Medical Centre, Rotterdam, Netherlands, 5University of Nottingham, Nottingham, United Kingdom, 6Chang Gung Memorial Hospital, Taoyuan, Taiwan

    Background/Purpose: Osteoarthritis (OA) is the most common cause of joint pain and a major cause of disability. OA commonly associates with other conditions, such as…
  • Abstract Number: 2221 • ACR Convergence 2022

    The Molecular Endotypes of Type 1 and Type 2 SLE

    Robert Robl1, Amanda Eudy2, Prathyusha Bachali3, Jennifer L Rogers4, Megan Clowse5, David Pisetsky6 and Peter lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2Duke University, Raleigh, NC, 3AMPEL BioSolutions, Redmond, WA, 4Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, 5Duke University, Durham, NC, 6Duke University Medical Center, Durham, NC

    Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…
  • Abstract Number: 0017 • ACR Convergence 2022

    Intra-articular Injection of Bacterial DNA Amplified from Human OA Patient Cartilage Worsens OA Outcomes in Mice

    Leoni Schlupp1, Emmaline Prinz1, Vladislav Izda2, Emily Nguyen1, Christopher Dunn3 and Matlock Jeffries1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Oklahoma Medical Research Foundation, New York, NY, 3University of Oklahoma Health Sciences Center, Edmond, OK

    Background/Purpose: We have previous demonstrated a bacterial DNA signature within cartilage of humans and mice and shown shifts in this signature with OA development. However,…
  • Abstract Number: 1131 • ACR Convergence 2022

    Integrating Genome and Transcriptome-Wide Associations with Real-World Data to Assess Risk for Leukopenia in Patients Taking Azathioprine

    Puran Nepal, Jacy Zanussi, Alyson Dickson, Laura Daniel, Tyne Miller-Fleming, Peter Straub, Adriana Hung, Wei-Qi Wei, Nancy Cox, Michael Stein, QiPing Feng and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN

    Background/Purpose: Azathioprine is used to treat several autoimmune conditions, but its use is limited by side effects. Leukopenia, a severe, potentially life-threatening side effect is…
  • Abstract Number: 2224 • ACR Convergence 2022

    Genes Causative of Primary Immunodeficiency Are Risk Factors for and Over-expressed in Systemic Lupus Erythematosus

    Haley Davis1, Adam Labonte1, Katherine Owen2, Erika Hubbard1, Jessica Kain1, Brian Kegerreis1, Prathyusha Bachali3, Amrie Grammer4 and Peter Lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2RILITE, Crozet, VA, 3AMPEL BioSolutions, Redmond, WA, 4AMPEL LLC, Charlottesville, VA

    Background/Purpose: Systemic lupus erythematosus (SLE) is a polygenic autoimmune disease whose specific causes are incompletely understood and for which there exists no single comprehensive diagnostic…
  • Abstract Number: 0050 • ACR Convergence 2022

    Effect of Disease-modifying Anti-rheumatic Drugs on Lung Microenvironment of SKG Mice

    Sung Hae Chang1, Jeongjun Choe2, Seon Uk Kim3, Jeong Yeon Kim4, Sung Won Lee5, Jeong Seok Lee6 and Eun Young Lee4, 1Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, Republic of Korea, 2Sungkyunkwan University, Seoul, Republic of Korea, 3Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea, 4Seoul National University College of Medicine, Seoul, Republic of Korea, 5Sooncheonhyang University College of Medicine, Seoul, Republic of Korea, 6Korea Advanced Institute of Science and Technology, KAIST, Graduate school of Medical Science and Engineering, Daejeon, Republic of Korea

    Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is one of the pivotal extrapulmonary conditions. However, the pathophysiology of RA-ILD, including the effect of disease-modifying anti-rheumatoid…
  • Abstract Number: 1141 • ACR Convergence 2022

    Consequences of SLE Heterogeneity on the Epigenome and the Drivers Behind

    Olivia Castellini-Pérez1, Athina Spiliopoulou2, Guillermo Barturen1, Andrii Iakovliev2, Manuel Martinez-Bueno1, Elena Carnero-Montoro1 and Marta Alarcon-Riquelme1, 1Center for Genomics and Oncological Research (GENYO), Granada, Spain, 2University of Edinburgh, Edinburgh, Scotland, United Kingdom

    Background/Purpose: Systemic Lupus Erythematosus (SLE) is a prototypic systemic autoimmune disease characterized by a complex aetiology and heterogenous symptomatology which has been recently dissected using…
  • Abstract Number: 2230 • ACR Convergence 2022

    Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

    Yiming Luo1, Marcela Ferrada1, Keith Sikora2, Daniel Kastner3, Zuoming Deng4, Mengqi Zhang5, Hugh Alessi1, Virginia Kraus6, Andrew Allen6 and Peter Grayson7, 1National Institutes of Health, Bethesda, MD, 2National Institutes of Health Clinical Center, Bethesda, MD, 3National Human Genome Research Institute, Bethesda, MD, 4National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 5University of Pennsylvania, Philadelphia, PA, 6Duke University, Durham, NC, 7National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
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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.

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