ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 0888 • ACR Convergence 2024

    Genetically Determined Peptidylglycine Alpha-amidating Monooxygenase (PAM) Mediated Amidation Regulates Tissue Damage by Rheumatoid Arthritis Synovial Fibroblasts

    Kevin Sheridan1, Emma Doris1, Maria Pimenta1, Jemma Falkov1, Matthew Fisher2, Munitta Muthana2, Denis Shields1, Richard Mains3, Betty Eipper3, Christopher Buckley4 and Anthony Wilson5, 1University College Dublin, Dublin, Ireland, 2University of Sheffield, Sheffield, United Kingdom, 3University of Connecticut, Connecticut, 4University of Oxford, Oxford, United Kingdom, 5UCD, Dublin, Dublin, Ireland

    Background/Purpose: The SNP rs26232 is associated with both risk and severity of rheumatoid arthritis (RA), with the C allele associated with the susceptibility to RA,…
  • Abstract Number: 1761 • ACR Convergence 2024

    Juvenile Idiopathic Arthritis Genetic Risk Haplotypes: Relevance to Children of African Ancestry

    Sabrina George1, Hannah C Ainsworth2, Kaiyu Jiang3, Gilad Barshad4, Adam He4, Edward Rice4, Carl D Langerfeld2, Charles G Danko4 and James N Jarvis3, 1University at Buffalo Jacobs School of Medicine, Buffalo, NY, 2Wake Forest University, Winston-Salem, NC, 3University of Washington School of Medicine, Seattle, WA, 4Cornell University Baker School of Veterinary Medicine, Ithaca, NY

    Background/Purpose: - Numerous juvenile idiopathic arthritis (JIA) risk loci have been identified, overwhelmingly from cohorts of children of European ancestry (EA). The extent to which…
  • Abstract Number: 2634 • ACR Convergence 2024

    Transcriptomic Stratification Predicts Response to Rituximab, Abatacept or the Association of Hydroxychloroquine and Leflunomide in 3 Randomized Controlled Clinical Trials in Sjögren’s Disease

    Baptiste Chevet1, Valerie Devauchelle2, Elena Pontarini3, Valentin Baloche4, Michele Bombardieri5, Simon Bowman6, Michael Barnes7, Antoine Sreih8, Jinqi Liu8, Sheila Kelly9, Antonia Christodoulou8, Hussain Badani10, Philippe Moigeon11, Laurence LAIGLE12, Perrine Soret13, Christelle Le dantec14, Jacques-Olivier Pers15, Marta Alarcon-Riquelme16, Guillermo Barturen17, Xavier Mariette18, Joel Van Roon19, Raphaele Seror20, Gaetane Nocturne18, Divi Cornec21 and Nathan Foulquier14, and PRECSEADS Clinical Consortium and NECESSITY consortium, 1University Hospital of Brest, Brest, France, 2UBO, Brest, France, 3William Harvey Research Institute, London, United Kingdom, 4University Medical Center, Utrecht, Utrecht, Netherlands, 5Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, 6Department of Rheumatology, University Hospital Birmingham, Birmingham, United Kingdom, 7William Harvey Research institute, Centre for Translational Bioinformatics, London, United Kingdom, 8Bristol Myers Squibb, Princeton, NJ, 9Bristol Myers Squibb, Doylestown, PA, 10Bristol Myers Squibb, Lawrence Township, NJ, 11Servier Laboratories, France, Gif sur Yvette, France, 12Servier Laboratories, France, SURESNES, France, 13Servier, Paris-Saclay, Paris, Ile-de-France, France, 14LBAI. UMR 1227, University of Brest, Brest, France, 15University of Brest, Brest, France, 16Fundación Progreso y Salud, Andalusian Government, Granada, Spain, 17Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, 18Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, 19University Medical Center Utrecht, Utrecht, Netherlands, 20Service de Rhumatologie, Hôpital Bicêtre, AP-HP, le Kremlin Bicetre, Ile-de-France, France, 21Service de Rhumatologie, CHU de Brest, Brest, France

    Background/Purpose: Sjögren’s disease (SjD) is a clinically and biologically heterogeneous disease. To date, no phase-III trial showed efficacy in reducing the symptoms or systemic activity…
  • Abstract Number: 0889 • ACR Convergence 2024

    Unraveling the Progression of Sjögren’s Disease at the Cellular and Histological Level Using Single-cell and Spatial Transcriptomics

    Tomás Gomes1, Matilde Bandeira2, Rui do Amaral Vieira1, Bianca Correia1, Sofia Barreira3, Pedro Gaspar4, Rita Cruz-Machado5, Beatriz Filipe1, Pedro Ávila-Ribeiro1, Filipa Ribeiro1, Bruno Vidal1, Beatriz Val1, Filipa Costa6, Ana Teodósio Chícharo7, Augusto Silva1, Manuel Silvério-Antonio1, João Forjaz Lacerda1, João Eurico Fonseca1, Dolores López Presa8, Nikita Khmelinskii1, Saumya Kumar9, Luis Graca1 and Vasco C. Romão10, 1Instituto de Medicina Molecular (iMM Lisboa), Lisboa, Portugal, 2Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, 3Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisbon, Portugal, 4Internal Medicine Department, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal, Povoa de Santa Iria, Portugal, 5Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisboa, Portugal, 6Rheumatology Department, Unidade Local de Saúde de Santa Maria. Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Lisbon, Portugal, 7Unidade Local de Saúde do Algarve, Hospital de Faro, Faro, Portugal, Faro, Portugal, 8Pathology Department, Unidade Local de Saúde de Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal, 9TWINCORE, a joint venture between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany, Hannover, Germany, 10Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal

    Background/Purpose: Sjögren’s Disease (SjD) is a systemic autoimmune disease that primarily targets salivary and lacrimal glands, causing tissue deterioration and loss of function. Disease progression…
  • Abstract Number: 1773 • ACR Convergence 2024

    Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells

    Adriana Almeida de Jesus1, Kip Friend2, Bin Lin3, Eric Karlins4, Colton McNinch4, Sara Alehashemi5, Keith Kauffman6, FARZANA BHUYAN3, Taylor Newbolt6, Andrea Bohrer7, Andre Rastegar3, Sophia Park3, Dana Kahle3, Jacob Mitchell3, Amanda Chen3, Sofia Torreggiani8, Kader Cetin Gedik9, Katsiaryna Uss2, Amer Khojah10, Eveline Wu11, Christiaan Scott12, Timothy Ronan Leahy13, Emma MacDermott14, Orla Killeen15, Thaschawee Arkachaisri16, Brian Nolan17, Zoran Gucev18, Kathryn Cook19, Vafa Mammadova20, Gulnara Nasrullayeva20, Mariana Correia Marques21, Abigail Bosk22, Seza Ozen23, Scott Canna24, Maude Tusseau25, Emilie Chopin26, Guilaine Boursier27, Veronique Hentgen28, Ines Elhani29, Mario Sestan30, Marija Jelusic31, Danielle Fink32, Douglas Kuhns32, Clifton Dalgard33, Alexandre Belot34, Timothy Moran11, Katherine Meyer-Barber7, Andrew Oler4, Daniel Barber6 and Raphaela Goldbach-Mansky35, 1NIAID, NIH, Silver Spring, MD, 2Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, 3TADS, NIAID, NIH, Bethesda, MD, 4BCBB, NIAID, NIH, Bethesda, MD, 5NIH/NIAID/TADS, Potomac, MD, 6T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, 7Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, 8University Of Maryland Baltimore, Baltimore, MD, 9Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, 10Umm Al-Qura University, Makkah, Saudi Arabia, 11University of North Carolina School of Medicine, Chapel Hill, NC, 12University of Cape Town, Cape Town, South Africa, 13Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, 14CHI Crumlin, Dublin, Dublin, Ireland, 15Children's Health Ireland, Dublin, Ireland, 16KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, 17Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, 18University Children's Hospital, Skopje, Macedonia, 19Akron Children's Hospital, Akron, OH, 20Azerbaijan Medical University, Baku, Azerbaijan, 21National Institutes of Health, Bethesda, MD, 22Children's National Hospital, Bethesda, DC, 23Department of Pediatrics, Hacettepe University, Ankara, Turkey, 24Children's Hospital of Philadelphia, Philadelphia, PA, 25RAISE, Hospices Civils de Lyon, Lyon, France, 26Hospices Civils de Lyon, Lyon, France, 27University of Montpellier, Montpellier, 28Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, 29Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, 30University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, 31University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, 32Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, 33The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, 34Hospices Civils de Lyon, Collonges au mont d'or, France, 35Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD

    Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
  • Abstract Number: 2641 • ACR Convergence 2024

    Identification of Systemic Sclerosis Intrinsic Subtypes in the ASSET Clinical Trial Using PBC Gene Expression

    Zhiyun Gong1, Timothy Sullivan2, Tammara Wood3, David Fox4, Dinesh Khanna5 and Michael Whitfield6, 1Dartmouth College, Lebanon, NH, 2Geisel School of Medicine at Dartmouth, Lebanon, NH, 3Dartmouth, Hanover, NH, 4University of Michigan, Dexter, MI, 5University of Michigan, Ann Arbor, MI, 6Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: Systemic sclerosis (SSc) is molecularly heterogeneous and distinct subtypes of patients have been identified based on gene expression in skin.  Although treatments have improved,…
  • Abstract Number: 0891 • ACR Convergence 2024

    Shared and Disease-Specific Mechanisms of Autoimmunity Using Single Cell Sequencing of Peripheral Immune Cells

    Jacquelyn Nestor1, Rachelly Normand1, Wamia Said1, Sergio Aguilar2, Nandini Samanta1, Sidney Martin1, Roya Best1, Hoang Anh Tran1, Adrien Antoinette1, Eilish Dillon3, Devin King3, April Jorge4, Maureen Leonard4, Pritha Sen3, Kerry Reynolds4, John Stone5, Michelle Rengarajan1, Tanuja Chitnis6, Kevin Wei7, Deepak Rao3, Andrew Luster8, Gary Reynolds1 and Alexandra-Chloe Villani1, 1Massachusetts General Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Boston, MA, 2National Center for Genomic Analysis, Barcelona, Spain, 3Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 4Massachusetts General Hospital, Harvard Medical School, Boston, MA, 5Massachusetts General Hospital , Harvard Medical School, Concord, MA, 6Brigham and Women's Hospital, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 7Brigham and Women's Hospital at Harvard Medical School, Boston, MA, 8Massachusetts General Hospital, Charlestown, MA

    Background/Purpose: Rheumatologic diseases are characterized by distinct clinical presentations and patterns of organ involvement, yet share many genetic risk factors and treatment responses. This suggests…
  • Abstract Number: 1780 • ACR Convergence 2024

    Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus

    Laura Lewandowski1, Linda Hiraki2, Christiaan Scott3, Ana Barrera-Vargas4, Diana Gómez-Martin5, Michael Ombrello6, Ivona Aksentijevich7, Zuoming deng8, Anthony Musolf9, Subrata Paul10, Dan Hupalo11, Clifton Dalgard11, Sarfaraz Hasni12, Earl Silverman13 and Mariana Kaplan14, 1NIAMS, NIH, Bethesda, MD, 2The Hospital for Sick Children, Toronto, ON, Canada, 3Pediatric Rheumatology, Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada, 4Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Federal District, Mexico, 5INCMNSZ, Mexico, Distrito Federal, Mexico, 6National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD, 7National Human Genome Research Institute, NIH, Bethesda, MD, 8National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, 9Computational and Statistical Genomics Branch, NHGRI, NIH, Baltimore, MD, 10Collaborative Bioinformatics Resource, NIAID, NIH, Bethesda, MD, 11The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, 12National Institutes of Health, Bethesda, MD, 13Silverman, Toronto, ON, Canada, 14NIAMS/NIH, Bethesda, MD

    Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…
  • Abstract Number: 2691 • ACR Convergence 2024

    Transcriptomic Changes in CD4+ T Lymphocytes in Eosinophilic Granulomatosis with Polyangiitis

    Roberto Ríos-Garcés1, Núria Farran1, Salvador Naranjo-Suarez2, Roser Alba-Rovira1, Sergio Prieto-González3, Itziar Tavera-Bahillo1, Roser Solans-Laqué4, Ebymar Arismendi5, Marc Corbera-Bellalta1, Javi Marco-Hernández1, Farah Kamberovic1, Nina Visocnik1, Maria Cid6 and Georgina Espígol-Frigolé1, 1Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, 2Angiogenesis in Liver Disease Research Group, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, 3Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, bar, Spain, 4Internal Medicine Service, Vall d'Hebron Hospital University and Campus, Barcelona, Spain, 5Pneumology Department, Hospital Clinic, IDIBAPS, University of Barcelona, CIBERES, Barcelona, Spain, 6Hospital Clinic Barcelona. University of Barcelona, Barcelona, Spain

    Background/Purpose: Eosinophilic Granulomatosis with polyangiitis (EGPA) is a rare systemic autoimmune disorder, included within the ANCA-associated vasculitis. It is characterized by a diverse clinical profile,…
  • Abstract Number: 0901 • ACR Convergence 2024

    Intergenic Alu Elements Are Uniquely Expressed in Dermatomyositis and Correlate with Interferon Stimulated Genes

    Rayan Najjar1, Andrew Mammen2 and Tomas Mustelin1, 1University of Washington, Seattle, WA, 2NIH, Bethesda, MD

    Background/Purpose: As genes constitute < 2% of our genomes, there is a need to explore potential roles of other genomic elements in autoimmune disease. We…
  • Abstract Number: 1804 • ACR Convergence 2024

    Investigating Adaptive Immune Receptor Repertoires by Deep Immune Cell Phenotyping in Preclinical Autoimmunity Development

    Aleksandra Bylinska1, Miles Smith1, Rufei Lu1, Benjamin Jones2, Carla Guthridge1, Matthew Caleb Marlin1, Christian Wright3, Susan Macwana3, Wade DeJager3, Marci Beel3, Christopher Lessard1, Cristina Arriens1, Joan Merrill4, Judith James1 and Joel Guthridge1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Oklahoma State University, Oklahoma City, OK, 3Oklahoma Medical Research Foundation, Oklahoma City, 4Oklahoma Medical Research Foundation, Oklahoma City 73104, OK

    Background/Purpose: A loss of systemic self-tolerance to anti-nuclear autoantibodies (ANAs) is one of the main hallmarks of SLE. However, most healthy females with ANAs will…
  • Abstract Number: 0904 • ACR Convergence 2024

    Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing

    Yuriy Baglaenko1, MIchelle Curtis2, Majd Al Suqri3, Ryan Agnew3, Aparna Nathan4, Hafsa Mire4, Annelise Yoo Mah-Som3, David Liu5, Gregory Newby6 and Soumya Raychaudhuri3, 1Cincinnati Children's Hospital, Cincinnati, OH, 2Broad Institute, Boston, MA, 3Brigham and Women's Hospital, Boston, MA, 4Harvard Medical School, Boston, MA, 5Broad Institute, Cambridge, MA, 6Johns Hopkins, Baltimore, MD

    Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
  • Abstract Number: 1810 • ACR Convergence 2024

    Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus

    Ksenia Anufrieva1, Rochelle Castillo2, Ce Gao2, Jessica Liu2, Neda Shahriari2, Kimberly Hashemi2, Dustin Taylor3, Rachael Rowley2, Elizabeth Rainone2, Avery LaChance2, Rachel Gate4, ilya Korsunsky2, Ruth Ann Vleugels5 and Kevin Wei6, 1BWH, Cambridge, MA, 2Brigham and Women's Hospital, Boston, MA, 3Vanderbilt University Medical Center, Nashville, TN, 410x Genomics, Pleasanton, CA, 5Brigham and Women's Hospital, Brookline, MA, 6Brigham and Women's Hospital at Harvard Medical School, Boston, MA

    Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
  • Abstract Number: 0022 • ACR Convergence 2024

    Transcriptomic Characterization of Knee Capsule Fibroblasts and Mesenchymal Stromal Cells Reveals an Association Between Flexion Contracture and Alterations in Immune Pathways in People with End-stage OA

    Odette Laneuville1, Daniel Stratis1, Robert Feibel2, Guy Trudel3 and T Mark Campbell4, 1University of Ottawa, Ottawa, ON, Canada, 2The Ottawa Hospital, Ottawa, ON, Canada, 3Ottawa Hospital Research Institute, Ottawa, ON, Canada, 4Bruyère Research Institute, Ottawa, ON, Canada

    Background/Purpose: Over 10% of adults have symptomatic knee OA but no disease-modifying interventions exist. A flexion contracture (loss of extension; FC) presents in 1/3 of…
  • Abstract Number: 0907 • ACR Convergence 2024

    Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol

    Niamh Fanning1, Murray Cadzow2, Ruth Topless3, Chris Frampton4, Nicola Dalbeth5, Tony Merriman6 and Lisa Stamp4, 1University of Otago, Christchurch, New Zealand, 2University of Otago, Dunedin 9054, New Zealand, 3University of Otago, Dunedin, New Zealand, 4University of Otago, Christchurch, Christchurch, New Zealand, 5University of Auckland, Auckland, New Zealand, 6University of Alabama at Birmingham, Homewood, AL

    Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…
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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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