Abstracts tagged "Gene Expression"

Abstract Number: 921 • 2018 ACR/ARHP Annual Meeting
Multi-Omics Analysis Identifies a Gene Signature Associated with the Clinical Response to Anti-TNF Therapy in Rheumatoid Arthritis
Adrià Aterido¹, Jesús Tornero², Francisco J Blanco³, Benjamin Fernandez Gutierrez⁴, Antonio Gonzalez⁵, Juan D. Cañete⁶, Joan Maymó⁷, Mercedes Alperi-López⁸, Alejandro Olivé-Marqués⁹, Hector Corominas¹⁰, Víctor Martínez-Taboada¹¹, Isidoro Gonzalez-Alvaro¹², Antonio Fernandez-Nebro¹³, Alba Erra¹⁴, Simón Sánchez-Fernández¹⁵, María López-Lasanta¹, Mireia López-Corbeto¹, Raül Tortosa¹, Laia Codó¹⁶, Sara Marsal¹ and Antonio Julià¹, ¹Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ²Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, ³Rheumatology Department, INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ⁴Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain, ⁵Laboratorio Investigación 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, ⁶Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, ⁷Rheumatology Department, Hospital del Mar, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Central de Asturias, Asturias, Spain, ⁹Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁰Rheumatology, Hospital Universitari de la Santa Creu i Sant Pau, Barcelona, Spain, ¹¹Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ¹²Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ¹³UGC de Reumatología, Instituto de Investigación Biomédica de Málaga (IBIMA) Hospital Regional Universitario de Málaga Departamento de Medicina y Dermatología, Universidad de Málaga, MÁLAGA, Spain, ¹⁴Rheumatology Service, Hospital San Rafael, Barcelona, Spain, ¹⁵Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, ¹⁶Life Sciences Department, Barcelona Supercomputing Centre, Barcelona, Spain
Background/Purpose: Rheumatoid arthritis (RA) is the most common inflammatory arthritis affecting up to 1% of the population. Tumor Necrosis Factor (TNF) inhibitors have significantly improved…
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: 929 • 2018 ACR/ARHP Annual Meeting
Transcriptional Profiling of the Subcutaneous Rheumatoid Nodule: An Insight into Pathogenic Mechanisms and Cellular Content
Judith Marsman¹, Melanie J Millier¹, John Highton¹, Lisa K. Stamp² and Paul A Hessian¹, ¹Department of Medicine, University of Otago, Dunedin, New Zealand, ²University of Otago, Christchurch, New Zealand
Background/Purpose: Rheumatoid nodules are the most common cutaneous manifestation in patients with RA, often associated with longstanding and a more severe disease course. Paradoxically, therapy…
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: 1094 • 2018 ACR/ARHP Annual Meeting
Endogenous Ifnβ Production Is Required for Efficient BCR Crosslinking and Survival of SLE B Cells
John D. Mountz¹, Shanrun Liu², PingAr Yang³, Qi Wu⁴, Bao Luo⁵, W. Winn Chatham⁶ and Hui-Chen Hsu⁴, ¹University of Alabama at Birmingham and Birmingham VA Medical center, Birmingham, AL, ²Biochemistry & Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL, ³Department of Medicine, Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁴Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁵Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁶Medcine/Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Increased type I interferon (IFN) has been shown to affect survival and activation of B cells in SLE. This study investigated novel mechanisms of…
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: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Yue Wang¹, Guoshuai Cai², Diana M. Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen D. Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁹, John Clarke¹⁰, Francesco Boin¹¹, Paul Wolters¹², Lorinda Chung¹³ and Michael L. Whitfield¹⁴, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁷Dermatology, Stanford University School of Medicine, Stanford, CA, ⁸Gastroenterology, Stanford University School of Medicine, Palo Alto, CA, ⁹Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁰Gastroenterology, Stanford University School of Medicine, Stanford, CA, ¹¹Rheumatology, University California, San Francisco, San Francisco, CA, ¹²Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹³Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…
Abstract Number: 2014 • 2018 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (sHLH)
Chiara Passarelli¹, Manuela Pardeo², Ivan Caiello³, Elisa Pisaneschi¹, Antonella Insalaco², Francesca Minoia⁴, Andrea Taddio⁵, Francesco Licciardi⁶, Antonio Novelli¹, Fabrizio De Benedetti⁷ and Claudia Bracaglia², ¹Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ³Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ⁴Reumatologia Pediatrica, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁵Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", University of Trieste, Trieste, Italy, ⁶SCDU Pediatria II, Immunoreumatologia, Ospedale Pediatrico Regina Margherita, Turin, Italy, ⁷IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
Background/Purpose: Macrophage activation syndrome (MAS), a severe complication of pediatric rheumatic disease, is currently classified among the secondary forms of HLH (sHLH). Primary HLH (pHLH)…
Abstract Number: 1109 • 2018 ACR/ARHP Annual Meeting
Gene Expressions of TMEM176A and TMEM176B Were Prominent at the Stage of Subclinical Pulmonary Vascular Disease in Systemic Sclerosis
Yoshinobu Koyama¹, Soichiro Fuke², Takashi Ohno³, Yoshiharu Sato⁴ and Toshie Higuchi¹, ¹Center for Autoimmune Diseases, Division of Rheumatology, Japan Red Cross Okayama Hospital, Okayama, Japan, ²Department of Cardiology, Japan Red Cross Okayama Hospital, Okayama, Japan, ³Management of medical safety, Okayama University Hospital, Okayama, Japan, ⁴DNA Chip Research Inc, Tokyo, Japan
Background/Purpose: Pulmonary arterial hypertension (PAH) is prominent as a vascular involvement of systemic sclerosis (SSc), which remains a leading cause of death in spite of…
Abstract Number: 2023 • 2018 ACR/ARHP Annual Meeting
Different Patterns of Interferon-Response-Gene Expression May Elucidate Different Pathomechanisms That Drive IFN-Response-Gene Activation in Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle³, Scott Canna⁴, Gina A. Montealegre Sanchez¹, Hanna Kim⁵, Rachel VanTries¹, Seza Ozen⁶, Samantha Dill⁷, Dawn C. Chapelle⁷, Bernadette Marrero¹, Yan Huang¹, Angelique Biancotto⁸ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA, ⁵Pediatric Translational Research Branch, NIAMS, NIH, Bethesda, MD, ⁶Hacettepe University Vasculitis Center (HUVAC), Ankara, Turkey, ⁷Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁸Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD
Background/Purpose: Many infants and children with early-onset autoinflammatory diseases are mutation-negative for genetically known autoinflammatory diseases. Recent data suggest a role for Type-I interferon dysregulation…
Abstract Number: 1118 • 2018 ACR/ARHP Annual Meeting
Identification of Transcriptional Regulatory Networks in Systemic Sclerosis
Yue Wang¹, Jennifer Franks² and Michael L. Whitfield³, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic sclerosis (SSc) is a heterogeneous autoimmune disorder with poor outcomes and no FDA-approved therapies. Prior work has shown gene expression patterns associated with…
Abstract Number: 2024 • 2018 ACR/ARHP Annual Meeting
Comparison of B and T Cell Subsets, Cytokine Expression and Synovial Pathology in Down’s Arthritis (DA) and Juvenile Idiopathic Arthritis (JIA)
Charlene Foley¹, Achilleas Floudas², Mary Canavan², Monika Biniecka², Emma-Jane MacDermott³, Orla G Killeen³, Ronan Mullan⁴ and Ursula Fearon⁵, ¹Our Lady's Children's Hospital Crumlin, National Centre for Paediatric Rheumatology, Dublin, Ireland, ²Trinity Biomedical Sciences Institute, Dublin, Ireland, ³National Centre for Paediatric Rheumatology, Dublin, Ireland, ⁴Rheumatology, Tallaght Hospital, Dublin, Ireland, ⁵Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland
Background/Purpose: Down syndrome (DS) is a common chromosomal disorder associated with a range of medical & immune abnormalities e.g. increased susceptibility to infections & a…
Abstract Number: 7 • 2018 ACR/ARHP Annual Meeting
RNA Sequencing Detection of Gene Dysregulation in B Cells Sorted from Salivary Gland Tissue and from Peripheral Blood Reveals New Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology
Elodie Rivière^1,2, Nicolas Tchitchek¹, Gaetane Nocturne^1,3, Juliette Pascaud¹, Saida Boudaoud¹, Alice Thai⁴, Normand Allaire⁴, Bernd Jagla⁵, Michael Mingueneau⁴ and Xavier Mariette^1,3, ¹Immunology of viral Infections and Autoimmune Diseases, IDMIT, CEA - Université Paris Sud - INSERM U1184, Le Kremlin Bicêtre & Fontenay aux Roses, France, ²Arthritis Fondation Courtin, Paris, France, ³Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, ⁴Immunology Research, Biogen, Cambridge, MA, ⁵Biomarker Discovery Platform UTechS CB, Hub de Bioinformatique et biostatistique C3IB, Institut Pasteur, Paris, France
Background/Purpose: Primary Sjögren's syndrome (pSS) is a chronic auto-immune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Chronic B cell activation, the…
Abstract Number: 1121 • 2018 ACR/ARHP Annual Meeting
Characterizing the T Cell Receptor Repertoire in Patients with Systemic Sclerosis
Jennifer Franks¹, Yue Wang², Rajan Bhandari³, Diana M. Toledo⁴, Bhaven K. Mehta², Tammara A. Wood⁵, Noelle Kosarek², Monique Hinchcliff⁶, Chris Bailey-Kellogg⁷, Patricia A. Pioli⁸ and Michael L. Whitfield⁹, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Geisel School of Medicine at Dartmouth, lebanon, NH, ⁴Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁵Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁶Rheumatology, Northwestern University, Chicago, IL, ⁷Computer Science, Dartmouth College, Hanover, NH, ⁸Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁹Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: T cell receptors (TCRs) are a vital component of the adaptive immune system and TCR repertoire diversity is considered a measure of the immune…
Abstract Number: 2057 • 2018 ACR/ARHP Annual Meeting
Alterations of the Splicing Machinery in Leukocyte Subsets of Rheumatoid Arthritis Patients Modulate Their Inflammatory, Autoimmune and Atherothrombotic Profiles
Carlos Perez-Sanchez¹, Alejandro Ibáñez-Costa², Emilia Alors-Perez², Sergio Pedraza-Arévalo², Alejandra Maria Patiño-Trives², María Luque Tevar², Patricia Ruiz-Limon³, Nuria Barbarroja¹, Yolanda Jiménez-Gómez¹, Maria Carmen Abalos-Aguilera⁴, Pedro Segui⁵, Rafaela Ortega-Castro¹, Jerusalem Calvo-Gutierrez¹, Alejandro Escudero-Contreras⁴, Eduardo Collantes Estevez², Justo P Castaño⁶, Raul M Luque⁶ and Chary Lopez-Pedrera², ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ³Research Group of Endocrine Diseases, Research Laboratory. Biomedical Research Institute of Malaga (IBIMA).Virgen de la Victoria Universitary Hospital, Malaga, Spain., Málaga, MA, Spain, ⁴Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁵Radiology, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁶Department of Cell Biology, Physiology and Immunology. University of Cordoba, Reina Sofia Hospital, IMIBIC, CIBERobn, and ceiA3, Córdoba, Spain
Background/Purpose: 1) To identify and characterize the alterations present in the splicing machinery in leukocyte subsets of Rheumatoid Arthritis (RA) patients, and 2) To evaluate…

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