Abstracts Archive - Page 1136 of 2425 - ACR Meeting Abstracts

Abstract Number: 1971 • 2018 ACR/ARHP Annual Meeting
PLCG2 Variants Influence CVID Susceptibility: Expanding the Spectrum of PLCG2-Associated Immune Dysregulation
Ann Marie Szymanski¹, Kathleen Baysac¹, Hannah Marcy¹, Elizabeth Baskin¹, Joshua Milner² and Michael Ombrello¹, ¹Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD
Background/Purpose: Immune dysregulation refers to alterations in immune signaling leading to development of autoimmunity, infection and atopic disease. Common variable immunodeficiency (CVID), a prototypic disorder…
Abstract Number: 1972 • 2018 ACR/ARHP Annual Meeting
Resolving the Synovial Fluid Proteome and Peptidome for Disease-Specific Mediators of Inflammatory Arthritis
Shalini Mahendran¹, Eleftherios Diamandis² and Vinod Chandran³, ¹Laboratory Medicine and Pathobiology, University of Toronto, Mount Sinai Hospital, Toronto, ON, Canada, ²Pathology and Laboratory Medicine, University of Toronto, Mount Sinai Hospital, University Health Network, Toronto, ON, Canada, ³Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Idiopathic inflammatory arthritis (IA) is a T-cell driven chronic condition characterized an imbalance in cell proliferation and apoptosis leading to significant synovial hyperplasia and…
Abstract Number: 1973 • 2018 ACR/ARHP Annual Meeting
Leveraging Publicly Available Gene Expression Data and Applying Machine Learning to Identify Novel Biomarkers for Rheumatoid Arthritis
Dmitry Rychkov¹, Marina Sirota² and Cindy Lin³, ¹Institute for Computational Health Sciences, University of Calfornia, San Francisco, San Francisco, CA, ²Pediatrics, Institute for Computational Health Sciences, University of California, San Francisco, San Francisco, CA, ³Stanford, Stanford, CA
Background/Purpose: Diagnosis and monitoring the disease progression of RA is challenging requiring a combination of imaging techniques and blood tests. There is currently no biochemical…
Abstract Number: 1974 • 2018 ACR/ARHP Annual Meeting
Dynamics of Transcriptional Signatures from Synovial Macrophage Subsets during Acute and Chronic Murine Models of Inflammatory Arthritis
Philip J. Homan¹, Anna B Montgomery², Salina Dominguez³, Carla M. Cuda³, Harris Perlman³ and Deborah R. Winter³, ¹Division of Rheumatology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, ²Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ³Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL
Background/Purpose: Macrophages play an integral role in the progression and persistence of rheumatoid arthritis (RA) through production of degradative enzymes, cytokines, and chemokines and recruitment…
Abstract Number: 1975 • 2018 ACR/ARHP Annual Meeting
Behcet’s Disease Lies in the “B” Holder. New Associations in Disease Susceptibility and Manifestations
Mohanad Elfishawi^1,2, Sally Elfishawi³, Ghada Mossallam³, Paul Norman⁴, Jill Hollenbach⁵, Maneesh Misra⁵, Gonzalo Montero Martin⁶, Helma de Bruin⁷, Leos Van de Pasch⁷, Erik Rozemuller⁷, Marcelo Fernandiz-Vina⁶, Adriana Abrudescu⁸ and Khaled Zaky⁹, ¹Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, NY, ²Rheumatology, Kasr Alainy Hospital, Cairo University, Cairo, Egypt, ³Clinical pathology and Immunology laboatory, National Cancer Institute, Cairo University, Cairo, Egypt, ⁴Division of Personalized Medicine and Department of Immunology, University of Colorado School of Medicine, Denver, CO, ⁵Department of Neurology, University of California San Francisco, San Francisco, CA, ⁶Department of Pathology, Stanford University,School of medicine, Palo Alto, CA, ⁷GenDx, Utrecht, Netherlands, ⁸Internal Medicine and Rheumatology, Icahn School of Medicine at Mount Sinai, Queens Hospital center, NYC, NY, ⁹Rheumatology and Rehabilitation, Faculty of medicine, Al-Azhar University, Cairo, Egypt
Background/Purpose: Behçet’s disease is a multisystem disease affecting young adults with variable vessel vasculitis as its underlying pathology. Previous studies in Behçet’s disease linked it…
Abstract Number: 1976 • 2018 ACR/ARHP Annual Meeting
Sequencing of the MHC Region Defines HLA-DQA1 As Driven Risk for Anti-Citrullinated Protein Antibodies (ACPA)-Positive Rheumatoid Arthritis in Han Population
Jianping Guo¹, Tao Zhang², Hongzhi Cao², Xiaowei Li², Mengru Liu¹, Yundong Zou¹ and Zhan-Guo Li¹, ¹Department of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China, ²Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen, China
Background/Purpose: The strong genetic contribution of the major histocompatibility complex (MHC) to rheumatoid arthritis (RA) susceptibility has been generally attributed to HLA-DRB1. However, due to…
Abstract Number: 1977 • 2018 ACR/ARHP Annual Meeting
Transcriptional Perturbation of RA-Risk Enhancer By CRISPR-DEADCAS9 Regulates LONG Range GENE Targets
Kate Duffus¹, Maria Imran², Gisela Orozco³, Helen Ray-Jones², Antony Adamson² and Stephen Eyre⁴, ¹Arthritis Research UK Centre for Genetics and Genomics, University of Manchester, Manchester, United Kingdom, ²University of Manchester, Manchester, United Kingdom, ³Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁴NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester, United Kingdom
Background/Purpose: Findings from genome wide association studies in complex diseases indicate over 90% of genetic variants associated with risk of developing disease are found outside…
Abstract Number: 1978 • 2018 ACR/ARHP Annual Meeting
Genome Wide Association Studies in SLE Predict E-Genes and Gene Expression Patterns That Inform Ancestral-Specific Molecular Pathways and Targeted Therapies
Katherine Owen¹, Carl Langefeld², Bryce Aidukaitis¹, Adam Labonte¹, Michelle Catalina¹, Prathyusha Bachali¹, Timothy D Howard³, Amrie Grammer¹ and Peter E. Lipsky¹, ¹AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA, ²Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ³Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Systemic lupus erythematosus (SLE) is a multi-organ autoimmune disorder with an important genetic component. Genome-wide association studies (GWAS) have linked many single nucleotide polymorphisms…
Abstract Number: 1979 • 2018 ACR/ARHP Annual Meeting
Rheumatoid Arthritis-Associated Genetic Alteration Defines a New Promoter for Peptydil Arginine Deiminase 4 Gene
Daniel M. Tóth¹, Timea Ocskó², Tibor T. Glant¹ and Tibor A. Rauch¹, ¹Department of Orthopedic Surgery, Rush University Medical Center, Chicago, IL, ²Orthopedic Surgery, Rush University Medical Center, Chicago, IL
Background/Purpose: Anti-citrullinated protein antibodies (ACPA) are frequently detected in Rheumatoid Arthritis (RA) patients and used as diagnostic biomarkers at a very early stage of the…
Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting
Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility
Hirotaka Matsuo¹, Toshihide Higashino¹, Tappei Takada², Hirofumi Nakaoka³, Yu Toyoda⁴, Blanka Stiburkova⁵, Hiroshi Nakashima⁶, Seiko Shimizu¹, Makoto Kawaguchi⁷, Akiyoshi Nakayama⁸, Yuka Aoki¹, Misaki Ishino¹, Yusuke Kawamura¹, Kenji Wakai⁹, Rieko Okada¹⁰, Tatsuo Hosoya¹¹, Kimiyoshi Ichida¹², Hiroshi Ooyama¹³, Hiroshi Suzuki², Ituro Inoue³, Tanya J. Major¹⁴, Tony R. Merriman¹⁴ and Nariyoshi Shinomiya¹, ¹Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, ²Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, ³Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan, ⁴Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine,, The University of Tokyo, Tokyo, Japan, ⁵Department of Pediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, First Faculty of Medicine, Prague, Czech Republic, ⁶Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan, ⁷National Defense Medical College, Tokorozawa, Japan, ⁸Dept Integrative Physiol, National Defense Medical College, Tokorozawa, Japan, ⁹Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹¹Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan, ¹²Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, ¹³Ryougoku East Gate Clinic, Tokyo, Japan, ¹⁴University of Otago, Dunedin, New Zealand
Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…
Abstract Number: 1981 • 2018 ACR/ARHP Annual Meeting
A Molecular Bayesian Network for Rheumatoid Arthritis Reveals Multiple Candidate Key Regulators for Disease Severity
Wenhui Wang¹, Amit Lahiri², Teresina Laragione², Jun Zhu¹ and Percio S. Gulko^2,3, ¹Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, ²Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY, ³Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Rheumatoid arthritis (RA) is a common and chronic autoimmune joint disease. RA is pathologically heterogeneous with multiple contributing factors. While there has been a…
Abstract Number: 1982 • 2018 ACR/ARHP Annual Meeting
An Integrative Rheumatoid Arthritis Network for Elucidating Molecular Mechanisms Underlying RA Severity
Wenhui Wang¹, Teresina Laragione², Amit Lahiri², Jun Zhu¹ and Percio S. Gulko³, ¹Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, ²Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY, ³Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Rheumatoid arthritis (RA) is a pathologically heterogeneous disease with multiple contributing factors. Many models have been developed to study RA severity and progression, and…
Abstract Number: 1983 • 2018 ACR/ARHP Annual Meeting
Mutations Associated with Clonal Hematopoiesis of Indeterminate Potential Are Found in Peripheral Blood and Synovial Fluid Macrophages from Patients with Rheumatoid and Psoriatic Arthritis
Maria De Santis¹, Matteo Zampini², Natasa Isailovic¹, Elena Generali¹, Giacomo Maria Guidelli¹, Matteo Della Porta² and Carlo Selmi^1,3, ¹Rheumatology and Clinical Immunology Unit, Humanitas Research Hospital, Rozzano (MI), Italy, ²Oncology and Hematology Unit, Humanitas Research Hospital, Humanitas University, Rozzano (MI), Italy, ³BIOMETRA Department, University of Milan, Milan, Italy
Background/Purpose: Myeloidmutations commonly associated to neoplasia in patients who do not meet the diagnostic criteria for myelodysplastic syndrome are coined as clonal hematopoiesis of indeterminate…
Abstract Number: 1984 • 2018 ACR/ARHP Annual Meeting
Regulation of Multiple Differentiation Potential in Mesenchymal Stem Cells Via an Intercellular Ca2+ Signaling Pathway
Shuang Liu¹, Erika Takemasa² and Masaki Mogi², ¹Dept. Pharmacology,, Ehime University Graduate School of Medicine, Toon-shi, Japan, ²Pharmacology, Ehime University School of Medicine, Toon-shi, Japan
Background/Purpose: Multipotent mesenchymal stem cells (MSCs) are widely used in regenerative medicine to repair damaged tissues. Regulating Ca2+ release-activated Ca2+ (CRAC) channel-mediated intercellular Ca2+ signaling…
Abstract Number: 1985 • 2018 ACR/ARHP Annual Meeting
IL-1β Inhibits the Expression of Dickkopf-1, an Antagonist of the Wnt-β-Catenin Signaling Pathway: A Possible Role of Inflammasome in Dysregulation of Endochondral Ossification
Satoshi Yamasaki¹, Yusuke Yoshida², Katsuhiro Oi², Tatsuomi Kuranobu², Takaki Nojima², Hiroaki Ida³ and Eiji Sugiyama⁴, ¹Division of Rheumatology, Kurume University Medical Center, Fukuoka, Japan, ²Department of Clinical Immunology and Rheumatology, Hiroshima University Hospital, Hiroshima, Japan, ³Respiorogy, Neurology and Rheumatology, Kurume University School of Medicine, Kurume, Japan, ⁴Department of Clinical Immunology and Rheumatology, Department of Clinical Immunology and Rheumatology, Hiroshima University Hospital, Hiroshima, Japan
Background/Purpose: Aberrant endochondral bone formation in the physis is a unique bone lesion in neonatal-onset multisystem inflammatory disease (NOMID), also called chronic infantile neurologic cutaneous…

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