Abstracts tagged "genetics"

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…
Abstract Number: 2837 • 2019 ACR/ARP Annual Meeting
Asymptomatic Monosodium Urate Crystal Deposition Associates with Increased Expression of Pro-Inflammatory Genes
Gabriela Sandoval-Plata¹, Kevin Morgan ², Tamar Guetta-Baranes ², Ana Valdes ³, Michael Doherty ⁴ and Abhishek Abhishek ⁵, ¹Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham / Academic Rheumatolog, School of Medicine, University of Nottingham, Nottingham, England, United Kingdom, ²Human Genomics and Molecular Genetics, School of Life Sciences, University of Nottingham, Nottingham, England, United Kingdom, ³Academic Rheumatology, School of Medicine, University of Nottingham / Nottingham NIHR BRC, Nottingham UK, Nottingham, England, United Kingdom, ⁴Academic Rheumatology, Division of Rheumatology,School of Medicine, University of Nottingham, Nottingham, UKArthritis Research UK Pain Centre, Nottingham, UKNational Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham, UK, Nottingham, England, United Kingdom, ⁵Academic Rheumatology, School of Medicine, University of Nottingham,Nottingham,UK National Institute for Health Research, Nottingham Biomedical Research Centre, Nottingham,UK, Nottingham, England, United Kingdom
Background/Purpose: Persistent hyperuricaemia is a prerequisite for gout. However, only 10% of people with hyperuricaemia develop symptomatic gout, whereas 25-35% have asymptomatic monosodium urate (MSU)…

All abstracts accepted to PRYSM are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 6:00 PM CT on March 18. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].