Abstracts tagged "Gene Expression"

Abstract Number: 2415 • 2016 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (secHLH)
Chiara Passarelli¹, Manuela Pardeo², Elisa Pisaneschi¹, Antonio Novelli¹, Fabrizio De Benedetti² and Claudia Bracaglia², ¹Ospedale Pediatrico Bambino Gesù IRCCS, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Rome, Italy, ²Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy
Background/Purpose: Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease, particularly of systemic JIA (sJIA). It is currently classified among the secondary forms…
Abstract Number: 68 • 2016 ACR/ARHP Annual Meeting
Epigenetic and Expression Analysis of Ankylosing Spondylitis Association Loci Point to Key Cell Types Driving Disease
Zhixiu Li¹, Katelin Haynes², Gethin P. Thomas³, Tony J. Kenna¹, Paul Leo¹ and Matthew A. Brown¹, ¹Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, ²University of Queensland Diamantina Institute, Brisbane, Australia, Brisbane, Australia, ³Research Office, Charles Sturt University, Wagga, Australia, Wagga, Australia
Background/Purpose: Susceptibility to ankylosing spondylitis (AS) is primarily genetic; thus far 113 susceptibility variants for AS have been identified. However, most of the AS associated…
Abstract Number: 1217 • 2016 ACR/ARHP Annual Meeting
Identification of Sjogren’s Syndrome-Associated Long Non-Coding RNAs That Are Co-Expressed with Key Protein-Coding Transcripts Involved in Dysregulated Interferon Responses
John A. Ice¹, Indra Adrianto¹, Michelle L. Joachims², Jennifer A. Kelly², Graham B. Wiley¹, Astrid Rasmussen¹, Kiely Grundahl³, Glen D. Houston⁴, David M. Lewis⁴, Lida Radfar⁵, Donald U. Stone^6,7, Joel M. Guthridge², Barbara M. Segal⁸, Nelson L. Rhodus⁹, James Chodosh^10,11, Raj Gopalakrishnan¹², Andrew J.W. Huang¹³, Pamela J Hughes¹⁴, Michael D. Rohrer¹⁵, Judith A. James^16,17,18, Courtney G. Montgomery¹, R. Hal Scofield^1,18,19, Patrick Gaffney¹, Kathy L. Sivils^2,16 and Christopher J. Lessard^1,16, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Department of Oral and Maxillofacial Pathology, University of Oklahoma College of Dentistry, Oklahoma City, OK, ⁵Oral Diagnosis and Radiology Department, University of Oklahoma College of Dentistry, Oklahoma City, OK, ⁶King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, ⁷Department of Ophthalmology, Johns Hopkins University, Baltimore, MD, ⁸Rheumatology, Hennepin County Medical Center, Minneapolis, MN, ⁹Department of Diagnostic and Biological Sciences, University of Minnesota School of Dentistry, Minneapolis, MN, ¹⁰Harvard Medical School, Boston, MA, ¹¹Massachusetts Eye and Ear Infirmary, Boston, MA, ¹²Diagnostic and Biological Sciences, Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis, MN, ¹³Department of Ophthalmology and Visual Sciences, Washington University, St. Louis, MO, ¹⁴Department of Oral and Maxillofacial Surgery, Oregon Health & Science University School of Dentistry, Portland, OR, ¹⁵Hard Tissue Research Laboratory, University of Minnesota School of Dentistry, Minneapolis, MN, ¹⁶Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ¹⁷Clinical Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁸Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ¹⁹US Department of Veterans Affairs Medical Center, Oklahoma City, OK
Background/Purpose: The “interferon signature”, marked by transcriptional upregulation of interferon (IFN)-inducible (IFI) genes, is a common finding in Sjögren’s syndrome (SS) that is associated with…
Abstract Number: 2426 • 2016 ACR/ARHP Annual Meeting
Transcriptomic Analysis of Immune Subsets in Juvenile Dermatomyositis before and after Treatment Identifies Novel Pathways Involved in Pathogenesis
Claire Deakin¹, Georg Otto^2,3, Meredyth Wilkinson⁴, Stefanie Dowle^2,3, Stefania Simou⁵, Lucy Marshall⁶, Elizabeth Rosser⁶, Daniel Kelberman^2,3, Lucy R Wedderburn^6,7,8 and Juvenile Dermatomyositis Research Group (JDRG), ¹Infection, Inflammation and Rheumatology Section,, UCL Institute of Child Health, London, United Kingdom, ²Genetics & Genomic Medicine Programme, UCL Institute of Child Health, London, United Kingdom, ³National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ⁴Division of Medicine, University College London, London, United Kingdom, ⁵Infection, Inflammation and Rheumatology, UCL Institute of Child Health, London, United Kingdom, ⁶Infection, Inflammation and Rheumatology Section, UCL Institute of Child Health, London, United Kingdom, ⁷Arthritis Research UK Centre for Adolescent Rheumatology, University College London, London, United Kingdom, ⁸Rheumatology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
Background/Purpose: Although proximal muscle weakness and skin rash are the typical features of juvenile dermatomyositis (JDM), little is known about disease pathogenesis, why other features…
Abstract Number: 77 • 2016 ACR/ARHP Annual Meeting
Integrated Analysis of Microrna and mRNA Expression Profiles Related to Cardiovascular Disease in Monocytes from Systemic Lupus Erythematosus and Primary Antiphospholipid Syndrome Patients
Carlos Perez-Sanchez¹, Maria Ángeles Aguirre Zamorano¹, Patricia Ruiz-Limon², Nuria Barbarroja¹, Yolanda Jiménez-Gómez¹, Maria Carmen Abalos-Aguilera², Ivan Arias de la Rosa², María Galindo³, Eduardo Collantes-Estévez¹, Maria Jose Cuadrado⁴ and Chary Lopez-Pedrera¹, ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ³Servicio de Reumatología, Hospital 12 de Octubre, Madrid, Spain, ⁴St Thomas Hospital, Lupus Research Unit, London, United Kingdom
Background/Purpose: The interplay between miRNAs and their mRNA targets might constitute an important mechanism in the regulation of the proatherothrombotic status of SLE and APS…
Abstract Number: 1473 • 2016 ACR/ARHP Annual Meeting
Expression of Vitamin D Receptor Associated Genes in the Aorta of Coronary Artery Disease Patients with and without Rheumatoid Arthritis
Ingvild Oma¹, Sverre Holm^2,3, Jacqueline Kirsti Andersen⁴, Ole K. Olstad⁵, Ida G. Fostad⁶, Torstein Lyberg⁵, Sven Martin Almdahl⁷, Øyvind Molberg⁸ and Ivana Hollan^9,10,11, ¹Innlandet Hospital Trust, Lillehammer, Norway, ²Research Institute for Internal Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway, ³Lillehammer Hospital for Rheumatic Diseases, Lillehammer, Norway, ⁴Norwegian University of Science and Technology, Gjøvik, Norway, ⁵Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway, ⁶Department of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway, ⁷Department of Cardiothoracic Surgery, University Hospital of North Norway, Tromsø, Norway, ⁸Oslo University Hospital, Oslo, Norway, ⁹Brigham and Women’s Hospital, Boston, MA, ¹⁰Harvard Medical School, Boston, MA, ¹¹Lillehammer Hospital for Rheumatic Diseases, Lillahammer, Norway
Background/Purpose: Vitamin D has an important role in the immune system, and has been linked to inflammation, rheumatoid arthritis (RA) and coronary artery disease (CAD)[1,…
Abstract Number: 2429 • 2016 ACR/ARHP Annual Meeting
Mechanisms for the Development of Lung Fibrosis in Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Adriana Almeida de Jesus¹, Louise Malle¹, Dan Yang², Bernadette Marrero¹, Yin Liu³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle⁴, Hanna Kim⁴, Michelle O'Brien⁴, Gregor Dueckers⁵, Suzanne Ramsey⁶, Joseph R. Fontana⁷, Steven M. Holland⁸, Yan Huang¹, Suvimol Hill⁹, Laisa Santiago¹⁰, Benito Gonzalez¹¹, Paul Brogan¹², Juergen Brunner¹³, Ebun Omoyinmi¹⁴, Athimalaipet V Ramanan¹⁵, Amy Paller¹⁶, Olcay Y. Jones¹⁷, Seza Ozen¹⁸, Stephen Brooks⁴, Zuoming Deng⁴, Manfred Boehm¹⁹, Raphaela Goldbach-Mansky²⁰ and Helmut Wittkowski²¹, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ³Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ⁴NIAMS/NIH, Bethesda, MD, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁷Cardiovascular and Pulmonary Branch, NHLBI, NIH, Bethesda, MD, ⁸Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ⁹Radiology Department, Clinical Center, NIH, Bethesda, MD, ¹⁰Johns Hopkins All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹¹Luis Calvo Mackenna Hospital, Santiago, Chile, ¹²UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹³Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria, ¹⁴University College London Institute of Child Health, London, United Kingdom, ¹⁵University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom, ¹⁶Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ¹⁷Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, ¹⁸Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, ANKARA, Turkey, ¹⁹Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ²⁰Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²¹Department of Pediatric Rheumatology and Immunology, University Hospital of Muenster, Münster, Germany
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is a monogenic autoinflammatory interferonopathy caused by gain-of-function mutations in TMEM173/STING, a nucleic acid sensor adaptor linked…
Abstract Number: 78 • 2016 ACR/ARHP Annual Meeting
Whole Blood Gene Modules Show Differences Between Active Lupus Nephritis and Quiescent Disease As Well As Absence of Plasmablast Signature in This Adult Population
Eric Zollars¹, Gerard Hardiman², Bethany Wolf³, Sean Courtney⁴, Norm Allaire⁵, Ann Ranger⁶ and Michelle Petri⁷, ¹Rheumatology, Medical University of South Carolina, Charleston, SC, ²Medicine, Medical University of South Carolina, Charleston, SC, ³Public Health Sciences, Medical University of South Carolina, Charleston, SC, ⁴Medical University of South Carolina, Charleston, SC, ⁵BiogenIdec, Cambridge, MA, ⁶Unum RX, Cambridge, MA, ⁷Rheumatology Division, Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: SLE is a complex disease with heterogeneous manifestations. It seems unlikely that all patients labeled as SLE have homogenous molecular pathology. An approach…
Abstract Number: 1478 • 2016 ACR/ARHP Annual Meeting
Coronary Artery Calcification in Rheumatoid Arthritis Patients Is Not Characterized By an Increase in Genes Associated with Coronary Artery Disease in the General Population
Ivan Ferraz-Amaro¹, Robert Winchester², Peter K. Gregersen³, Richard J. Reynolds⁴, Annette M. Oeser⁵, Cecilia P. Chung⁶, C. Michael Stein⁶, Mary Chester M. Wasko⁷, Jon T. Giles⁸ and Joan Bathon², ¹Rheumatology Division, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, ²Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ³Robert S. Boas Center for Genomics and Human Genetics, Feinstein Institute for Med Res, Manhasset, NY, ⁴Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁵Vanderbilt University Medical Center, Nashville, TN, ⁶Medicine, Vanderbilt University Medical Center, Nashville, TN, ⁷Lupus Center, Pittsburgh, PA, ⁸Rheumatology, Columbia University Medical Center, NY, NY
Background/Purpose: In the general population individuals with coronary artery disease (CAD) have a significantly increased frequency of particular susceptibility single nucleotide polymorphisms (SNPs). Since CAD…
Abstract Number: 2561 • 2016 ACR/ARHP Annual Meeting
A Novel Pharmacological Action of MTX on RA Fibroblast-like Synoviocytes Via Circadian Clock Genes
Kohjin Suzuki¹, Kohsuke Yoshida¹, Teppei Hashimoto², Kenta Kaneshiro¹, Ayako Nakai¹, Naonori Hashimoto¹, Yoshiko Kawasaki², Nao Shibanuma³, Natsuko Nakagawa⁴, Yoshitada Sakai⁵ and Akira Hashiramoto⁶, ¹Department of Biophysics, Kobe University Graduate School of Health Sciences, Kobe, Japan, ²Department of Rheumatology, Kobe Kaisei Hospital, Kobe, Japan, ³Departmant of Orthopaedic Surgery, Kobe Kaisei Hospital, Kobe, Japan, ⁴Department of Orthopaedic Surgery, Konan-Kakogawa Hospital, Kakogawa, Japan, ⁵Division of Rehabilitation Medicine, Kobe University Graduate School of Medicine, Kobe, Japan, ⁶Department of Biophysics, Department of Biophysics, Kobe University Graduate School of Health Sciences, Kobe, Japan
Background/Purpose: The circadian rhythm is disrupted in patients with rheumatoid arthritis (RA), and we have shown that tumor necrosis factor(TNF)-ƒ¿ inhibits the expression of circadian…
Abstract Number: 380 • 2016 ACR/ARHP Annual Meeting
Linear Discriminant Analysis of Cultured Fibroblast-like Synoviocytes Identifies 6 Candidate Genes Which Predict Extended Course in Juvenile Idiopathic Arthritis
AnneMarie Brescia¹, Megan Simonds², Suzanne McCahan³, Tim Bunnell³, Kathleen E. Sullivan⁴ and Carlos D. Rosé¹, ¹Pediatric Rheumatology, Thomas Jefferson University/ AI duPont Hospital for Children, Wilmington, DE, ²Nemours, Nemours Biomedical Research, Wilmington, DE, ³Nemours Biomedical Research, Wilmington, DE, ⁴Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA
Background/Purpose: The goal of this project is the identification of informative synovial biomarkers to predict which children with oligoarticular juvenile idiopathic arthritis (JIA) will have…
Abstract Number: 1563 • 2016 ACR/ARHP Annual Meeting
Enhanced Expression of mRNA for Response Gene to Complement 32 in CD34+ Cells of the Bone Marrow in Rheumatoid Arthritis
Yu Matsueda¹, Tatsuo Nagai², Tetsuya Tomita³, Hideki Yoshikawa³, Sumiaki Tanaka¹ and Shunsei Hirohata¹, ¹Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Kanagawa, Japan, ²Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, ³Department of Orthopedics, Osaka University Graduate School of Medicine, Suita Osaka, Japan
Background/Purpose: Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by hyperplasia of synovial lining cells, consisting of macrophage-like type A synoviocytes and fibroblast-like type…
Abstract Number: 2869 • 2016 ACR/ARHP Annual Meeting
Critical Roles of IRAK4 Kinase Activity in Inflammation but Not B Cell Response in SLE
Chia Chi Sun¹, Gang Chen², Nuruddeen Lewis¹, Andrew T Bender¹, Changling Sia³, Ling Zhang², Catherine Jorand Lebrun⁴, Herbert Y Lin⁵, Ravi I Thadhani⁶, Harsukh Parmar¹ and Julie A DeMartino¹, ¹TIP Immunology, EMD Serono, Inc, Billerica, MA, ²EMD Serono, Inc, Billerica, MA, ³TIP Immunology, EMD Serono, Inc, Billeria, MA, ⁴Discovery Technology, EMD Serono, Inc, Billerica, MA, ⁵Division of Nephrology, Massachusetts General Hospital, Boston, MA, ⁶Divison of Nephrology, Massachusetts General Hospital, Boston, MA
Background/Purpose: Interleukin-1 receptor (IL-1R)-associated kinase 4 (IRAK4) is a key component of the Myddosome complex, which is essential for signalling downstream of IL-1R and most…
Abstract Number: 1163 • 2015 ACR/ARHP Annual Meeting
Dynamic Regulation of Enhancers and Super-Enhancers in Rheumatoid Arthritis Synovial Finroblasts
Sung-Ho Park¹, Christopher Sohn¹, Konstantinos Loupasakis², Angela Lee³, Eugenia Giannopoulou¹, Lionel B. Ivashkiv³ and George D. Kalliolias¹, ¹Hospital for Special Surgery, New York, NY, ²Rheumatology, Hospital for Special Surgery Weill Cornell Medical College, New York, NY, ³Medicine, Hospital for Special Surgery, New York, NY
Background/Purpose: Enhancers are regulatory elements that modulate transcriptional rates of genes. Super-enhancers (SupE) are extremely large enhancers associated primarily with highly expressed genes that have…
Abstract Number: 2462 • 2015 ACR/ARHP Annual Meeting
Altered Expression of IL-10 Family Cytokines in Chronic Recurrent Multifocal Osteomyelitis Result in Enhanced Inflammasome Activation
Sigrun Hofmann¹, Angela Rösen-Wolff¹, Hermann Girschick², Henner Morbach³ and Christian Hedrich⁴, ¹Children's Hospital Dresden, Dresden, Germany, ²Children's Hospital, Berlin, Germany, ³Children's Hospital Würzburg, Würzburg, Germany, ⁴Pediatric Rheumatology and Immunology, Children's Hospital Dresden, Dresden, Germany
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is the most severe presentation of the autoinflammatory bone disorder chronic nonbacterial osteomyelitis (CNO). The pathophysiology of CNO remains…

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