Abstracts tagged "genetics"

Abstract Number: 0184 • ACR Convergence 2020
Lymphomas Complicating Rheumatoid Arthritis: Results of a French Multi-Centre Case-Control Study
Joanna Kedra¹, Raphaèle Seror², Philippe Dieude³, Arnaud Constantin⁴, Eric Toussirot⁵, Elias Kfoury⁶, Charles Masson⁷, Divi Cornec⁸, Jean-Jacques Dubost⁹, Laurent Marguerie¹⁰, Sebastien Ottaviani¹¹, Franck Grados¹², Rakiba Belkhir¹³, Olivier Fain¹⁴, Philippe Goupille¹⁵, Christelle Sordet¹⁶, Bruno Fautrel¹⁷, Peggy Philippe¹⁸, Muriel Piperno¹⁹, Bernard Combe²⁰, Olivier Lambotte²¹, Christophe Richez²², Jeremie Sellam²³, Thomas Sené²⁴, Guillaume Denis²⁵, Thierry Lequerre²⁶, Xavier Mariette²⁷ and Gaetane Nocturne¹³, ¹Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique, UMR S1136, Paris, France, Paris, France, ²Rheumatology Department, Bicetre Hospital, APHP, France, Paris, France, ³Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France, ⁴Rheumatology Department, Toulouse University Hospital, Toulouse, France, ⁵CIC biotherapies, Besançon University Hospital, Besançon, France, ⁶Hematology Department, Brive La Gaillarde Hospital, Brive la Gaillarde, France, ⁷Rheumatology Department, Angers University Hospital, Angers, France, ⁸Rheumatology Department, Brest University Hospital, Brest, France, ⁹CHU Gabriel Montpied, Clermont-Ferrand, France, ¹⁰Department of medicine, rheumatology and neurology, Hopale hospital, Berck, France, ¹¹Rheumatology Department, Bichat hospital, APHP, Paris, France, ¹²Rheumatology Department, Amiens University Hospital, Amiens, France, ¹³Rheumatology Department, Bicetre Hospital, APHP, France, Le Kremlin-Bicêtre, France, ¹⁴Internal Medicine Department, Saint-Antoine hospital, APHP, Paris, France, ¹⁵CHU Tours, department of rheumatology, Tours, France, ¹⁶Rheumatology Department, Strasbourg University Hospital, Strasbourg, France, ¹⁷Sorbonne University, INSERM, IPLES; Pitié-Salpêtrière Hospital, Paris, Ile-de-France, France, ¹⁸Rheumatology Department, Lille University Hospital, Lille, France, ¹⁹Rheumatology Department, Lyon University Hospital, Lyon, France, ²⁰University of Montpellier, Montpellier, France, ²¹Internal Medicine Department, Bicetre Hospital, APHP, Le Kremlin-Bicêtre, France, ²²Rheumatology Hospital, Pelligrin Hospital, Bordeaux University Hospital, Bordeaux, France, ²³AP-HP, Hôpital Saint-Antoine, Service de Rhumatologie, Centre de Recherche Saint-Antoine, INSERM UMR_S 938,Sorbonne Université, Paris, 75012, France, Paris, France, ²⁴Department of internal medicine, Diaconesses-Croix Saint-Simon Hospital, Paris, France, ²⁵Hematology Department, Rochefort Hospital, Rochefort, France, ²⁶Rheumatology, University Teaching Hospital, Rouen, France, ²⁷Paris-Sud University, Rueil-Malmaison, France
Background/Purpose: Rheumatoid arthritis (RA) is associated with an increased risk of non-Hodgkin B-cell lymphoma (B-cell NHL). The objectives of this work were:To study the characteristics of…
Abstract Number: 1158 • ACR Convergence 2020
Clinical Features and Outcomes in STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Sofia Torreggiani¹, Sara Alehashemi², Jacob Mitchell¹, Gema Souto Adeva¹, Bin Lin¹, Jenna Wade¹, Gina Montealegre Sanchez³, Abdulrahman Alrasheed⁴, Sibel Balci⁵, Roberta Berard⁶, Borzutzky Arturo⁷, Jürgen Brunner⁸, Bjoern Buehring⁹, Al Adba Buthaina¹⁰, Caterina Cancrini¹¹, John Carter¹², Mireia Corbeto Lopez¹³, Fabrizio De Benedetti¹⁴, Huy Do¹⁵, Gregor Dueckers¹⁶, Les Folio¹⁵, Antonella Insalaco¹⁷, Rabia Miray Kisla Ekinci⁵, Michael Miller¹⁸, Marco Montes Cano¹⁹, Marie-Paule Morin²⁰, Seza Ozen²¹, Lucia Pacillo¹¹, Suzanne Ramsey²², Adam Reinhardt²³, Dax Rumsey²⁴, Laisa Santiago²⁵, Grant Schulert²⁶, Benjamin Wright²⁷, Adriana de Jesus²⁸ and Raphaela Goldbach-Mansky²⁹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ³NIAID/NIH, Rockville, MD, ⁴King Abdullah Specialized Children Hospital, Riyadh, Riyadh, Saudi Arabia, ⁵Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey, ⁶London Health Sciences Centre, London, ON, Canada, ⁷Pontificia Universidad Católica de Chile, Santiago, Chile, ⁸Tirol Kliniken, Innsbruck, Innsbruck, Austria, ⁹Rheumazentrum Ruhrgebiet, Ruhr-University-Bochum, Herne, Germany, ¹⁰Sidra Medicine, Doha, Doha, Qatar, ¹¹Unit of Immune and Infectious Diseases, Scientific Institute for Research and Healthcare (IRCCS) Childrens’ Hospital Bambino Gesù, University Department of Pediatrics (DPUO); Department of Systems Medicine, University of Rome Tor Vergata, Roma, Italy, ¹²University of South Florida, Tampa, FL, ¹³Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain, ¹⁴Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁵Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, ¹⁶Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Germany, Krefeld, Germany, ¹⁷Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁸Feinberg School of Medicine, Northwestern University Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ¹⁹Hospital Universitario Virgen del Rocío, Sevilla, Sevilla, Spain, ²⁰Université de Montréal, CHU Sainte-Justine, Montréal, Canada, ²¹Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ²²IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ²³Boys Town National Research Hospital, Omaha, Omaha, NE, ²⁴Alberta Health Services – Edmonton Zone (Stollery Children’s Hospital), University of Alberta, Edmonton, AB, Canada, ²⁵Johns Hopkins All Children's Hospital, St. Petersburg, FL, ²⁶PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²⁷Mayo Clinic, Phoenix, AZ, ²⁸Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²⁹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an autoinflammatory interferonopathy caused by gain-of-function mutations in STING1, characterized by peripheral vasculopathy and interstitial lung…
Abstract Number: 1954 • ACR Convergence 2020
Genome-wide Association Study of Sjögren’s Syndrome Identifies Ten New Risk Loci
Bhuwan Khatri¹, Tove Ragna Reksten², Kandice Tessneer³, Astrid Rasmussen¹, R. Scofield¹, Simon Bowman⁴, Joel Guthridge¹, Judith James⁵, Lars Ronnblom⁶, Blake Warner⁷, Xavier Mariette⁸, Roald Omdal⁹, Javier Martin¹⁰, Maria Teruel¹⁰, Janicke Liaaen Jensen¹¹, Lara Aqrawi¹¹, Øyvind Palm¹¹, Marie Wahren-Herlenius¹², Torsten Witte¹³, Roland Jonsson¹⁴, Maureen Rischmueller¹⁵, A Darise Farris¹, Marta Alarcon-Riquelme¹⁰, Wan-Fai Ng¹⁶, Kathy Sivils¹, Gunnel Nordmark¹⁷ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Bergen, Bergen, Norway, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴University Hospitals Birmingham, Birmingham, United Kingdom, ⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁶Uppsala University, Uppsala, Sweden, ⁷National Institute of Dental and Craniofacial Research, Bethesda, ⁸Paris-Sud University, Rueil-Malmaison, France, ⁹University of Oslo, Stavanger, Norway, ¹⁰Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹¹University of Oslo, Oslo, Norway, ¹²Karolinska Institute, Stockholm, Sweden, ¹³Medizinische Hochschule Hannover, Klinik für Rheumatologie und Immunologie und Regionales Kooperatives Rheumazentrum Niedersachsen e.V., Hannover, Germany, ¹⁴Haukeland University Hospital, Bergen, Norway, ¹⁵The Queen Elizabeth Hospital and Univ of Adelaide, St Peters, South Australia, Australia, ¹⁶Newcastle University, Gateshead, United Kingdom, ¹⁷Uppsala University, Copenhagen S, Sweden
Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with exocrine gland dysfunction leading to substantial morbidity, and 10 published genetic susceptibility loci. Our genome-wide…
Abstract Number: 0288 • ACR Convergence 2020
Targeted Sequencing Revealed Novel Candidate Genetic Contributions to Lupus Nephritis in a Cohort of Swedish Patients with Systemic Lupus Erythematosus
Sule Yavuz¹, Pascal Pucholt², Dag Leonard², Juliana Imgenberg-Kreuz², Matteo Bianchi², Johanna Sandling², Iva Gunnarsson³, Swedish Sle Network² and Lars Ronnblom², ¹Uppsala University Rheumatology, Doral, FL, ²Uppsala University, Uppsala, Sweden, ³Karolinska Institute, Stockholm, Sweden
Background/Purpose: Lupus nephritis (LN) is a common debilitating manifestation of Systemic Lupus Erythematosus (SLE). Despite improved understanding of underlying mechanisms driving to LN and early…
Abstract Number: 1164 • ACR Convergence 2020
Frequency of Genetic Diagnosis in an Autoinflammatory Disease Natural History Protocol Cohort of Patients
Katelin R. Honer¹, Kim Johnson¹, Gema Souto Adeva¹, Gina Montealegre Sanchez², Jenna Wade³, Jacob Mitchell¹, Katherine Townsend³, Adriana de Jesus⁴ and Raphaela Goldbach-Mansky⁵, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by innate immune dysregulation resulting in systemic inflammation and variable organ-specific clinical manifestations. The Translational Autoinflammatory Disease Section…
Abstract Number: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
Abstract Number: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner ¹, Elaine Remmers ², Miranda Marion ³, Marc Sudman ⁴, Colleen Satorius ⁵, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson ⁶, Michael Ombrello¹, Patricia Woo ⁷, Carl Langefeld ⁸, Sampath Prahalad ⁹ and Susan Thompson ¹⁰, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute, Bethesda, ³Wake Forest University, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁷London, United Kingdom, ⁸Winston Salem, ⁹Emory + Children's Pediatric Institute, Atlanta, ¹⁰Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
Abstract Number: 017 • 2020 Pediatric Rheumatology Symposium
MyD88 S209R-Mediated Immune Dysregulation in Mouse Models of Arthritis
Sufia Bakshi¹, Malika Waschmann ², Anders Lindstedt ², Emily Rominger ², Robert Colbert ³ and Keith Sikora ⁴, ¹National Institutes of Health, Bethesda, Maryland, ²National Institutes of Health, Bethesda, ³NIH/NIAMS, Bethesda, Maryland, ⁴National Institutes of Health Clinical Center, Bethesda, Maryland
Background/Purpose: MYD88 is a critical adaptor protein that connects Toll-like and IL-1 receptor signaling to activation of NF-kB. We previously reported a heterozygous de novo mutation in MYD88 (S222R)…
Abstract Number: 019 • 2020 Pediatric Rheumatology Symposium
Characterization of DOCK8 as a Novel Gene Associated with Cytokine Storm Syndrome
Mingce Zhang ¹, Remy Cron ¹, Devin Absher ², Prescott Atkinson ¹, W. Winn Chatham ¹ and Randy Cron¹, ¹University of Alabama at Birmingham, Birmingham, ²HudsonAlpha Institute for Biotechnology, Huntsville
Background/Purpose: Cytokine storm syndromes (CSS), such as macrophage activation syndrome (MAS) and secondary hemophagocytic lymphohistiocytosis (HLH), are life threatening conditions that commonly present with unremitting…
Abstract Number: 031 • 2020 Pediatric Rheumatology Symposium
Exome Sequencing for Early Pediatric Systemic Lupus Erythematosus: Standard of Care in 2020?
Yike Jiang¹, Bo Yuan ¹, Marietta DeGuzman ¹, M. Cecilia Poli ², Justin Branch ¹, Andrea Ramirez ³, Martha Curry ¹, Maria Pereira ⁴, Amanda Brown ¹, W. Blaine Lapin ⁵, Sarah Nicholas ¹, Lisa Forbes ¹, Nicholas Rider ¹, Levi Watkin ¹, Jennifer Rammel ⁶, Ankur Kamdar ⁷, Melissa Mizesko ⁸, Juan Carlos Becerra ⁹, Emilina Lim ¹⁰, Eyal Muscal ¹¹, Anaid Reyes ¹, Zeynep Coban-Akdemir ¹, James Lupski ¹, Ivan Chinn ¹ and Tiphanie Vogel ¹, ¹Baylor College of Medicine, Houston, ²Universidad del Desarrollo, Santiago, Chile, ³Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁴Assistant Professor, Section of Rheumatology, Division of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁵, ⁶Section of Nephrology and Rheumatology, Department of Pediatrics, University of Florida Health Jacksonville, Jacksonville, Florida, ⁷Houston, ⁸Driscoll Children's Hospital, Corpus Christi, ⁹Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru, ¹⁰Children's Hospital Orange County, Orange County, ¹¹Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, houston
Background/Purpose: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with multifactorial etiology. Identification of monogenic causes of pediatric SLE (pSLE) has yielded important insights…
Abstract Number: 158 • 2020 Pediatric Rheumatology Symposium
Genetics of Age at Diagnosis in Childhood-Onset Systemic Lupus Erythematosus
Raffaella Carlomagno¹, Fangming Liao ¹, JingJing Cao ², Dafna Gladman ³, Marisa Klein-Gitelman ⁴, Andrea Knight ⁵, Deborah Levy ¹, Andrew Paterson ², Zahi Touma ³, Murray Urowitz ³, Declan Webber ¹, Joan Wither ³, Earl D. Silverman ⁶ and Linda Hiraki ⁷, ¹Division of Rheumatology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, Canada, ⁴Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, ⁵SickKids Research Institute, Toronto, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Translational Medicine, Research Institute, The Hospital for Sick Children, Toronto, Canada, ⁷Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Canada
Background/Purpose: The genetic contribution to the development of systemic lupus erythematosus (SLE) is estimated to be 66% in twin studies. Genome wide association studies (GWAS)…
Abstract Number: 164 • 2020 Pediatric Rheumatology Symposium
The Juvenile Idiopathic Arthritis-Associated IL2RA and IL6R Haplotypes Contain Enhancers Whose Functions Are Altered by JIA-Associated Genetic Variants
Kaiyu Jiang ¹, Yungki Park ², tao liu ³, Marc Sudman ⁴, Susan Thompson ⁵ and James Jarvis⁶, ¹University at Buffalo, Buffalo, ²University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, ³Roswell Park Cancer Institute, Buffalo, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, ⁶University at Buffalo Jacobs School of Medicine, Buffalo
Background/Purpose: The JIA risk haplotypes, like those of other autoimmune diseases, are highly enriched for H3K4me1/H3K27ac histone marks, epigenetic features typically associated with functional enhancers.…
Abstract Number: 165 • 2020 Pediatric Rheumatology Symposium
A Massively Parallel Reporter Assay Screen of Genetic Variants on JIA Haplotypes Reveals Variants Associated with Altered Function of an Intergenic Enhancer in the HLA Class II Locus
Kaiyu Jiang ¹, tao liu ², Ryan Tewhey ³ and James Jarvis⁴, ¹University at Buffalo, Buffalo, ²Roswell Park Cancer Institute, Buffalo, ³Jackson Laboratories, Bar Harbor, ⁴University at Buffalo Jacobs School of Medicine, Buffalo
Background/Purpose: While genome-wide association studies have provided valuable information about genetic risk for juvenile idiopathic arthritis (JIA), we are still unable to determine the actual…
Abstract Number: 2740 • 2019 ACR/ARP Annual Meeting
Takayasu Arteritis Associated Risk Locus in IL6 Represses the Anti-inflammatory Gene GPNMB Through Chromatin Looping and Recruiting MEF2-HDAC Complex
Xiufang Kong ¹ and Amr Sawalha², ¹University of Michigan & Fudan University, Ann Arbor, MI, ²University of Pittsburgh & University of Michigan, Pittsburgh, PA
Background/Purpose: Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within IL6 (rs2069837 A/G). The…
Abstract Number: 2836 • 2019 ACR/ARP Annual Meeting
Do Serum Urate-associated Genetic Variants Differentially Contribute to Gout Risk According to Body Mass Index? Analysis of the UK Biobank
Vicky Tai¹, Ravi Narang ¹, Greg Gamble ¹, Lisa Stamp ², Tony Merriman ³ and Nicola Dalbeth ¹, ¹University of Auckland, Auckland, New Zealand, ²University of Otago, Christchurch, Christchurch, Canterbury, New Zealand, ³University of Otago, Birmingham, AL
Background/Purpose: Both serum urate-associated genetic variants and body mass index (BMI) are associated with gout risk. The aim of this study was to systematically examine…

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