Abstracts tagged "Bioinformatics"

Abstract Number: 924 • 2018 ACR/ARHP Annual Meeting
10X Genomics-Based Single-Cell RNA-Seq and Low Input RNA-Seq Identify a Transcriptional Landscape Supporting Interferon in the Pathogenesis of Autoimmune-Associated Congenital Heart Block
Hemant Suryawanshi¹, Jill P. Buyon², Miao Chang², Thomas Tuschl¹ and Robert M. Clancy², ¹Howard Hughes Medical Institute and The Rockefeller University, New York, NY, ²NYU School of Medicine, New York, NY
Background/Purpose: Towards understanding the molecular mechanisms that link maternal anti-Ro antibodies to the development of conduction system disease in a second trimester fetus, single cell…
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: 1963 • 2018 ACR/ARHP Annual Meeting
Phenome Wide Association Study of IL6R Variant Identifies Drug Target for Cardiovascular Disease and Inflammation
Tianxi Cai^1,2,3, Yichi Zhang^1,3, Yuk-Lam Ho¹, Nicholas Link¹, Jiehuan Sun^1,3, Jie Huang^1,4, Tianrun Cai^1,2,4, Scott Damrauer⁵, Yuri Ahuja², Jacqueline Honerlaw¹, Jie Huang¹, Lauren Costa¹, Petra Schubert¹, Chuan Hong³, David Gagnon^1,6, Yan Sun⁷, Michael Gaziano^1,2,4, Peter Wilson^7,8, Kelly Cho^1,2,4, Philip Tsao⁹, Christopher J. O'Donnell^1,2 and Katherine P. Liao^1,2,4, ¹VA Boston Healthcare System, Boston, MA, ²Harvard Medical School, Boston, MA, ³Harvard T.H. Chan School of Public Health, Boston, MA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Corporal Michael Crescenz VA Medical Center, Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, ⁶Boston University School of Public Health, Boston, MA, ⁷Emory University Schools of Medicine and Public Health, Atlanta, GA, ⁸Atlanta VA Medical Center, Atlanta, GA, ⁹VA Palo Alto Health Care System, Department of Medicine, Stanford University School of Medicine, Stanford, CA
Background/Purpose: Individuals with an interleukin 6 receptor (IL6R) genetic variant not on IL6R blocking therapy have biomarker profiles similar to those treated with IL6R blockers. …
Abstract Number: 1964 • 2018 ACR/ARHP Annual Meeting
Epigenetic Changes of Energy Metabolism-Related Genes in Rheumatoid Arthritis Fibroblast-like Synoviocytes
Brian Pedersen¹, Roxana Coras^1,2, Wei Wang³, Gary S. Firestein¹ and Monica Guma^1,2, ¹Medicine, University of California San Diego, La Jolla, CA, ²Medicine, Autonomous University of Barcelona, Bellatera, Spain, ³Chemistry and Biochemistry, University of California San Diego, La Jolla, CA
Background/Purpose: Epigenetic changes contribute to the pathogenesis of rheumatoid arthritis (RA) and a comprehensive epigenomic characterization of RA fibroblast-like synoviocytes (FLS) has recently been described.…
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: 2115 • 2018 ACR/ARHP Annual Meeting
Identification of Systemic Lupus Erythematosus Subgroups Using Electronic Health Record and Genetic Databases
Milena Gianfrancesco¹, Ishan Paranjpe², Julia Kay³, Joanne Nitiham⁴, Kimberly Taylor⁵, Cristina Lanata¹, Marina Sirota⁶, Lindsey A. Criswell⁷, Gabriela Schmajuk⁸ and Jinoos Yazdany², ¹Medicine/Rheumatology, University of California, San Francisco, San Francisco, CA, ²University of California, San Francisco, San Francisco, CA, ³Medicine/Rheumatology, University of California - San Francisco, San Francisco, CA, ⁴Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, University of California, San Francisco, San Francisco, CA, ⁵University of California, San Francisco, Rosalind Russell / Ephraim P. Engleman Rheumatology Research Center, San Francisco, CA, ⁶Pediatrics, Institute for Computational Health Sciences, University of California, San Francisco, San Francisco, CA, ⁷University of California San Francisco, San Francisco, CA, ⁸San Francisco VA Medical Center, San Francisco, CA
Background/Purpose: Systemic lupus erythematosus (SLE) is a multifactorial disease with genetic and environmental risk factors, and heterogeneous manifestations that encompass a wide range of disease…
Abstract Number: 2123 • 2018 ACR/ARHP Annual Meeting
Analysis of Lupus Synovitis Gene Expression Reveals Dysregulation of Pathogenic Pathways Activated within Infiltrating Immune Cells
Erika Hubbard, Michelle Catalina, Sarah Heuer, Prathyusha Bachali, Nick Geraci, Isabella Blanco, Robert Robl, Peter Lipsky and Amrie Grammer, AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA
Background/Purpose: Arthritis is a common manifestation of SLE but the inflammatory and immune cells that infiltrate synovium and the signaling pathways activated are not well…
Abstract Number: 177 • 2017 ACR/ARHP Annual Meeting
Intronic Variants of the B-Cell Proliferator RASGRP3 Affect Its Expression, and Might Contribute to Lupus Risk
Bhupinder Singh¹, Philip Borden², Julio Molineros³, Celi Sun³, Loren Looger² and Swapan Nath¹, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, OKlahoma City, OK, ²Howard Hughes Medical Institute, Ashburn, VA, ³Oklahoma Medical Research Foundation, OKlahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with complex genetic underpinnings. Variants from RASGRP3 (RAS Guanyl Releasing Protein 3) is one 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: 184 • 2017 ACR/ARHP Annual Meeting
An Epigenome-Guided Approach to Causal Variant Discovery in Autoimmune Disease
Richard C. Pelikan¹, Jennifer A. Kelly², Yao Fu², Caleb Lareau³, Graham B. Wiley¹, Stuart Glenn¹, Martin Aryee^3,4, Courtney Montgomery⁵ and Patrick Gaffney², ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Department of Biostatistics, Harvard T.H. Chan School of Public Health, Charlestown, MA, ⁴Department of Pathology, Harvard Medical School, Boston, MA, ⁵Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Genome-wide association studies have identified thousands of genetic associations with complex human diseases and traits. However, establishing the truly causal regions of risk haplotypes…
Abstract Number: 1334 • 2017 ACR/ARHP Annual Meeting
Identification of Key Regulators for Resolution of Chronic Inflammatory Arthritis through a Systems Approach
Jin-Sun Kong Sr.¹, Ji-Hwan park², Seung-Ah Yoo Sr.¹, Jung Hee Koh³, Daehee Hwang⁴ and Wan-Uk Kim Sr.⁵, ¹The Catholic University of Korea, Center for Integrative Rheumatoid Transcriptomics and Dynamics, seoul, Korea, Republic of (South), ²Center for Plant Aging Research, DGIST, Daegu 42988, South Korea, Daegu, Korea, Republic of (South), ³Division of Rheumatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea, Republic of (South), ⁴Center for Plant Aging Research, DGIST, Daegu 42988, South Korea, Department of New Biology, DGIST, Daegu 42988, South Korea, Daegu, Korea, Republic of (South), ⁵The Catholic University of Korea, Department of Internal Medicine, seoul, Korea, Republic of (South)
Background/Purpose: Collagen-induced arthritis(CIA), a representative animal model of chronic inflammatory arthritis, follows phases of induction, peak of inflammation and resolution. This study aims to identify…
Abstract Number: 2405 • 2017 ACR/ARHP Annual Meeting
Biological Function Integrated Prediction of Severe Radiographic Progression in Rheumatoid Arthritis: A Nested Case Control Study
Young Bin Joo¹, Yul Kim², Youngho Park³, Kwangwoo Kim⁴, Jeong Ah Ryu⁵, Seunghun Lee⁶, So-Young Bang⁷, Hye-Soon Lee⁸, Gwan-Su Yi⁹ and Sang-Cheol Bae⁷, ¹Internal Medicine, St. Vincent's Hospital, The Catholic University of Korea, Suwon, Korea, Republic of (South), ²Bio and Brain Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea, Republic of (South), ³Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ⁴4Department of Biology, Kyung Hee University, Seoul, Korea, Republic of (South), ⁵Department of Radiology, Hanyang University Hospital, Seoul, Korea, Republic of (South), ⁶17 Haengdang-Dong, Seongdong-G, Hanyang University Hospital, Seoul, Korea, Republic of (South), ⁷Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, Republic of (South), ⁸Hanyang University Guri Hospital, Gyeonggi-do, Korea, Republic of (South), ⁹Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea, Republic of (South)
Background/Purpose: Radiographic progression is reported to be highly heritable in rheumatoid arthritis (RA). However, previous study using genetic loci showed an insufficient accuracy of prediction…
Abstract Number: 2931 • 2017 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, Guoshuai Cai², Diana Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁸, John Clarke⁹, Francesco Boin¹⁰, Paul Wolters¹¹, Lorinda Chung¹² and Michael L. Whitfield¹, 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, ⁶Stanford University School of Medicine, Stanford, CA, ⁷Department of Dermatology, Stanford University School of Medicine, Palo Alto, CA, ⁸Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ⁹Medicine/Gastroenterology, Stanford University, Stanford, CA, ¹⁰Rheumatology, University California, San Francisco, San Francisco, CA, ¹¹Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹²Rheumatology, Stanford University Medical Center, Palo Alto, CA
Background/Purpose: While skin fibrosis is a hallmark of systemic sclerosis (SSc), internal organ involvement is the primary cause of morbidity and mortality, often related to…
Abstract Number: 41 • 2017 ACR/ARHP Annual Meeting
A Fine Bioinformatical Analysis of Lymphocyte Distribution Predicts the Diagnosis of Systemic Autoimmune Diseases
Quentin Simon¹, Bénédicte Rouvière¹, Tifenn Martin¹, Lucas Le Lann¹, Alain Saraux¹, Valérie Devauchelle-Pensec¹, Concepcion Marañón², Nieves Varela Hernández², Aleksandra Dufour³, Carlo Chizzolini⁴, Ellen de Langhe⁵, Nuria Barbarroja⁶, Chary Lopez-Pedrera⁷, Velia Gerl⁸, Aurelie Degroof⁹, Julie Ducreux¹⁰, Elena Trombetta¹¹, Tianlu Li¹², Marta Alarcón-Riquelme¹³, Christophe Jamin¹ and Jacques-Olivier Pers¹, ¹U1227, Université de Brest, Inserm, Labex IGO, CHU de Brest, Brest, France, ²GENYO, Centre for Genomics and Oncological Research Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain, ³Immunology & Allergy, University Hospital and School of Medicine, Geneva, Switzerland, ⁴University hospital of Geneva, Geneva, Switzerland, ⁵Rheumatology, University Hospital KU Leuven, Leuven, Belgium, ⁶Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁷IMIBIC/Reina Sofia Hospital/ University of Cordoba, Cordoba, Spain, ⁸Department of Rheumatology and Clinical Immunology, Charité University Hospital, Berlin, Germany, ⁹Pôle de Maladies Rhumatismales, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium, ¹⁰Pôle de pathologies rhumatismales inflammatoires et systémiques, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium, ¹¹Laboratorio di Analisi Chimico Cliniche e Microbiologia - Servizio di Citofluorimetria, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milano, Italy, ¹²Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, ¹³GENYO. Center for Genomics and Oncological Research, Granada, Spain
Background/Purpose : We investigated 194 individuals with SADs (38 primary Sjögren’s syndrome (pSS), 47 rheumatoid arthritis (RA), 46 systemic lupus erythematosus (SLE), 42 systemic sclerosis…
Abstract Number: 799 • 2016 ACR/ARHP Annual Meeting
Biomarker Identification & Molecular Sub-Classification in Systemic Sclerosis for Precision Medicine Using RNA-Seq
Elisha D.O. Roberson^1,2, Li Cao¹, David J. Morales-Heil¹, Benjamin Korman³ and John Varga⁴, ¹Department of Medicine, Washington University, St. Louis, MO, ²Department of Genetics, Washington University, St. Louis, MO, ³Department of Rheumatology, Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁴Rheumatology and Dermatology, Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL
Background/Purpose: Systemic sclerosis (SSc) is a complex and highly heterogeneous disease with multi-organ involvement. Accurate tools for disease sub-classification are lacking. In most patients, skin…

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