Abstracts tagged "Gene Expression"

Abstract Number: 2238 • 2018 ACR/ARHP Annual Meeting
Non-Coding Urate-Associated Variants Function in a Conserved Lincrna Regulatory Domain That Alters MAF transcription
Megan Leask¹, Tony R. Merriman¹, Amy Dowdle¹, Hamish Salvesen¹, Ruth Topless¹, Tayaza Fadason², Wenhua Wei¹, William Schierding², Justin O'Sullivan² and Julia Horsfield¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Genome-wide association studies (GWAS) have revealed that the large majority of disease-associated single nucleotide polymorphisms (SNPs) are located in the non-coding regions of the…
Abstract Number: 154 • 2018 ACR/ARHP Annual Meeting
Epigenetic Editing of FOXP3 in Human T Cells Is Sufficient to Induce Overexpression and Create a Regulatory T Cell Phenotype in Vitro
Christopher Dunn¹, Cassandra Velasco¹, Madison Andrews², Alexander Rivas³ and Matlock A. Jeffries⁴, ¹Rheumatology, Immunology, and Allergy, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³University of Arkansas for Medical Sciences, Little Rock, AR, ⁴Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Defects in the number and function of naturally-occurring regulatory T cells (Tregs) have been identified in a variety of autoimmune diseases. The development of…
Abstract Number: 1718 • 2018 ACR/ARHP Annual Meeting
Skin Gene Expression Profiling Predicts Longitudinal Modified Rodnan Skin Score Change
Chase Correia¹, Mary A. Carns², Kathleen Aren², Monique Hinchcliff³ and J. Matthew Mahoney⁴, ¹Rheumatology, Northwestern Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ³Rheumatology, Northwestern University, Chicago, IL, ⁴Neurological Sciences, University of Vermont College of Medicine, Burlington, VT
Background/Purpose: Systemic sclerosis (SSc) causes varying degrees of skin fibrosis with varying trajectory. Extent of skin involvement is measured by the modified Rodnan skin score…
Abstract Number: 2684 • 2018 ACR/ARHP Annual Meeting
Type I IFN, TLR7, MHC Class I, B Cell and OX40 Pathways Suppressed By Anifrolumab (anti-type I IFN receptor) in Moderate to Severe SLE Patients
Katie Streicher¹, Jixin Wang¹, Philip Z. Brohawn², Brandon W. Higgs², Raj Tummala³ and Koustubh Ranade⁴, ¹Translational Medicine, MedImmune, Gaithersburg, MD, ²MedImmune LLC, Gaithersburg, MD, ³MedImmune, Gaithersburg, MD, ⁴Translational Medicine, MedImmune LLC, Gaithersburg, MD
Background/Purpose: Type I interferon has been identified as one of the central mediators in the pathogenesis of SLE, such that patients are characterized by activation…
Abstract Number: 807 • 2018 ACR/ARHP Annual Meeting
The Effects of DNA Methylation on Differential Expression in Dermal Fibroblasts from African-American Patients with Systemic Sclerosis
DeAnna Baker Frost¹, Willian da Silveira², Ilia Atanelishvili³, Robert C. Wilson⁴, E. Starr Hazard², Jim C. Oates⁵, Galina S. Bogatkevich³, Carol A. Feghali-Bostwick⁶, Gary Hardiman⁷ and Paula S. Ramos⁸, ¹Medicine, Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, ²Center for Genomic Medicine, Medical University of South Carolina, Charleston, SC, ³Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁴Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, ⁵Division of Rheumatology & Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁶Department of Medicine, Medical University of South Carolina, Division of Rheumatology and Immunology, Charleston, SC, ⁷Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁸Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC
Background/Purpose: The etiology and reasons underlying the ethnic disparities in systemic sclerosis (SSc) remain unknown. African-Americans (AA) are disproportionally affected by SSc, yet dramatically underrepresented…
Abstract Number: 1876 • 2018 ACR/ARHP Annual Meeting
Machine Learning Classification of Peripheral Blood Gene Expression Identifies a Subset of Patients with Systemic Sclerosis Most Likely to Show Clinical Improvement in Response to Hematopoietic Stem Cell Transplant
Jennifer Franks¹, Viktor Martyanov², Tammara A. Wood², Leslie Crofford³, Lynette Keyes-Elstein⁴, Daniel E. Furst⁵, Ellen Goldmuntz⁶, Maureen D. Mayes⁷, Peter McSweeney⁸, Richard Nash⁸, Keith Sullivan⁹ and Michael L. Whitfield¹⁰, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ⁴Rho, Inc, Chapel Hill, NC, ⁵University of California Los Angeles, Los Angeles, CA, ⁶NIAID, NIH, Bethesda, MD, ⁷Rheumatology, University of Texas McGovern Medical School, Houston, TX, ⁸Colorado Blood Cancer Institute, Denver, CO, ⁹Duke University Medical Center, Durham, NC, ¹⁰Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: The SCOT (Scleroderma: Cyclophosphamide or Transplantation) trial (Sullivan K. et al, 2018) demonstrated the clinical benefit of hematopoietic stem cell transplant (HSCT) compared to…
Abstract Number: 2933 • 2018 ACR/ARHP Annual Meeting
Non-Invasive Tape Sampling Reveals RNA Gene Clusters in Cutaneous Lupus Erythematosus That Discriminate Affected from Unaffected and Healthy Volunteer Skin
Joseph F. Merola¹, Wenting Wang², Carrie Wager³, Stefan Hamann², Xueli Zhang³, Alice Thai², Chris Roberts², Christina Lam⁴, Cristina Musselli², Galina Marsh², Dania Rabah², Catherine Barbey⁵, Nathalie Franchimont² and Taylor L. Reynolds², ¹Clinical Unit for Research Innovation & Trials, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Biogen, Cambridge, MA, ³Formerly of Biogen, Cambridge, MA, ⁴Boston University Medical School, Boston, MA, ⁵Biogen, Zug, Switzerland
Background/Purpose: Punch biopsy, the standard diagnostic and monitoring procedure for patients with cutaneous lupus erythematosus (CLE), impedes patient recruitment and follow up due to risk…
Abstract Number: 853 • 2018 ACR/ARHP Annual Meeting
Enhanced Type I Interferon Gene Signature in Primary Antiphospholipid Syndrome: Association with Earlier Disease Onset and Preeclampsia
Michelle Lopes¹, Giovana Torrezan², Ana Paula Gandara¹, Eloisa Olivieri³, Iana Nascimento¹, Erica Okazaki⁴, Eloisa Bonfa⁵, Dirce Carraro⁶ and Danieli Andrade¹, ¹Rheumatology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ²Genomics and Molecular Biology Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ³Macromolecules Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ⁴Hemathology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁵Rheumatology Division, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁶Division of Genomic Diagnostics, AC Camargo Cancer Center, São Paulo, Brazil
Background/Purpose: Primary antiphospholipid syndrome (PAPS) is an autoimmune vasculopathy mediated by autoantibodies with thrombosis as its main clinical manifestation. The presence of antiphospholipid antibodies, while…
Abstract Number: 1894 • 2018 ACR/ARHP Annual Meeting
Baricitinib-Associated Changes in Type l Interferon Gene Signature during a 24-Week Phase-2 Clinical SLE Trial
Thomas Dörner¹, Yoshiya Tanaka², Michelle Petri³, Josef S. Smolen⁴, Ernst R. Dow⁵, Richard E. Higgs⁵, Robert J. Benschop⁵, Adam Abel⁵, Maria E. Silk⁵, Stephanie de Bono⁵ and Robert W. Hoffman⁵, ¹Charité Universitätsmedizin Berlin and Deutsches Rheuma-Forschungszentrum (DRFZ), Berlin, Germany, ²University of Occupational and Environmental Health, Kitakyushu, Japan, ³Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Division of Rheumatology, Department of Medicine 3, Medical University of Vienna, Vienna, Austria, ⁵Eli Lilly and Company, Indianapolis, IN
Background/Purpose: In the phase 2 study JAHH (NCT02708095), treatment with baricitinib (bari), an oral selective Janus kinase 1/2 inhibitor approved for the treatment of RA,…
Abstract Number: 856 • 2018 ACR/ARHP Annual Meeting
Integrated mRNA and microRNA Transcriptomes of Monocytes from Antiphospholipid Syndrome Patients Identifies Molecular Networks Related to Their Atherothrombotic Status. Modulatory Effects of In Vivo Ubiquinol Supplementation
Carlos Perez-Sanchez¹, Laura Pérez Sánchez², Alejandra Maria Patiño-Trives³, María Luque Tevar³, Luca Scudeler⁴, Alejandro Ibáñez-Costa³, Patricia Ruiz-Limon⁵, Yolanda Jiménez-Gómez¹, Ivan Arias de la Rosa⁶, Maria Carmen Abalos-Aguilera⁶, Pedro Segui⁷, Nuria Barbarroja¹, Jose Manuel Villalba⁸, Eduardo Collantes Estevez³, Maria Jose Cuadrado⁹, Maria Ángeles Aguirre Zamorano¹ and Chary Lopez-Pedrera³, ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ³IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁴Università degli Studi di Torino, Turin, Italy, ⁵Research Group of Endocrine Diseases, Research Laboratory. Biomedical Research Institute of Malaga (IBIMA).Virgen de la Victoria Universitary Hospital, Malaga, Spain., Málaga, MA, Spain, ⁶Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁷Radiology, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁸Departamento de Biologia Celular, Fisiologia e Inmunología, University of Córdoba, Cordoba, Spain, ⁹Clinica Universidad de Navarra, Madrid, Spain
Background/Purpose: 1. To characterize the mRNAs and microRNAs transcriptomes of monocytes, key immune cells in the atherothrombotic pathology of Antiphospholipid Syndrome patients (APS). 2. To…
Abstract Number: 1897 • 2018 ACR/ARHP Annual Meeting
Single Cell RNA Expression in Lupus Nephritis Comparing African-American and Caucasian Patients Identifies Differential Expression of Interferon Pathway
Andrea Fava¹, Yuji Zhang², Nir Hacohen³, Arnon Arazi⁴, Celine C. Berthier⁵, Deepak Rao⁶, Michael Brenner⁷, David Wofsy⁸, Anne Davidson⁹, Matthias Kretzler¹⁰, David Hildeman¹¹, E. Steve Woodle¹², Betty Diamond¹³ and Michelle Petri¹⁴, ¹Departement of Medicine - Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ²Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, MD, ³Harvard Medical School, Boston, MA, ⁴Broad Institute, Cambridge, MA, ⁵Nephrology, Division of Nephrology, University of Michigan Medical Center, Ann Arbor, MI, ⁶Human Immunology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁷Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁸Rheumatology, University of California, San Francisco, San Francisco, CA, ⁹Center for Autoimmunity, Musculoskeletal & Hematopoietic Diseases, Feinstein Institute for Medical Research, Manhasset, NY, ¹⁰Division of Nephrology, University of Michigan, Ann Arbor, MI, ¹¹University of Cincinnati, Cincinnati, OH, ¹²University of Cincinnati College of Medicine, Cincinnati, OH, ¹³The Feinstein Institute for Medical Research, Manhasset, NY, ¹⁴Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: African-American (AA) ethnicity is associated with a 3-fold higher risk of developing systemic lupus erythematosus (SLE). In addition, there is an increased risk of…
Abstract Number: 183 • 2017 ACR/ARHP Annual Meeting
Allele-Dependent Binding of a Viral Protein to Autoimmune Disease-Associated Genetic Variants
Matthew Weirauch¹, Daniel Miller², Leah C. Kottyan³, Ignacio Ibarra⁴, Arthur Lynch², Sayeed Syed⁵, Xiaoting Chen², Erin Zoller², Connor Schroeder², Josh Lee², Albert Magnusen⁶, Ally Yang⁷, Timothy R. Hughes⁷, Joo-Seop Park⁸, Charles Vinson⁵ and John B. Harley^2,9, ¹Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany, ⁵NCI, Bethesda, MD, ⁶Center of Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁷University of Toronto, Toronto, ON, Canada, ⁸Divisions of Urology and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁹US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Risk factors are known for many diseases, but the etiologies of most autoimmune diseases remain unknown and are idiopathic. Pathogenesis of disease likely involves…
Abstract Number: 1413 • 2017 ACR/ARHP Annual Meeting
Cytokine-Induced Aire Activity in Rheumatoid Arthritis Fibroblast-like Synoviocytes Regulates Expression of Interferon-γ Response Genes
Beatrice Bergström¹, Christina Lundqvist¹, Hans Carlsten¹, Olov Ekwall² and Anna-Karin Hultgård Ekwall¹, ¹Rheumatology and Inflammation Research, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden, ²Dept. of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg, Göteborg, Sweden
Background/Purpose: AIRE is a transcriptional regulator of tissue specific antigens in medullary thymic epithelial cells (mTEC). AIRE orchestrates the negative selection of self-reactive T cells…
Abstract Number: 2657 • 2017 ACR/ARHP Annual Meeting
Single Cell Expression Quantitative Trait Loci (eQTL) Analysis of Established Systemic Lupus Erythematosus (SLE)-Risk Loci in Lupus Patient Monocytes
Yogita Ghodke-Puranik¹, Zhongbo Jin², Wei Fan³, Mark A. Jensen¹, Jessica M. Dorschner², Danielle Vsetecka², Shreyasee Amin⁴, Ashima Makol⁵, Floranne C. Ernste⁶, Thomas Osborn⁴, Kevin Moder⁴, Vaidehi Chowdhary⁷ and Timothy Niewold⁸, ¹Colton Center for Autoimmunity, New York University, New York, NY, ²Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ³Department of Rheumatology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, China, Shanghai, China, ⁴Rheumatology, Mayo Clinic, Rochester, MN, ⁵Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁶Division of Rheumatology, Mayo Clinic Rochester, Rochester, MN, ⁷Internal Medicine, Division of Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁸New York University, New York, NY
Background/Purpose: Most confirmed SLE-risk loci are found near or in genes with immune function, yet how these loci influence diverse immune cell subsets remains unknown.…
Abstract Number: 297 • 2017 ACR/ARHP Annual Meeting
Multiplexed Characterization of Circulating and Joint-Derived Human Neutrophils in Inflammatory Arthritis
Ricardo Grieshaber Bouyer¹, Olha Halyabar², Anais Levescot¹, Kacie Hoyt², Lauren Henderson² and Peter Nigrovic^1,2, ¹Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Neutrophils are innate immune cells that play a central role in the initiation of inflammatory arthritis as well as mediating tissue damage. We sought…

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