Abstracts tagged "genetics"

Abstract Number: 013 • 2023 Pediatric Rheumatology Symposium
Applying Pathway Analysis to Whole Genome Data to Identify Pathophysiologic Pathways in Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Luis Franco², Linda Hiraki³, Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng², Mariana Kaplan² and Laura Lewandowski², ¹NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³The Hospital for Sick Children, Toronto, ON, Canada, ⁴University of Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de Mexico, Mexico
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but twin/sibling high concordance rate suggests…
Abstract Number: 023 • 2023 Pediatric Rheumatology Symposium
Effect of Type 1 Interferons and JAK Inhibitors on Gene Expression in Bioengineered Pediatric Skeletal Muscle
Lauren Covert¹, Joseph Prinz², Hailee Patel³, Jeffrey Dvergsten⁴ and George Truskey³, ¹Duke University, Durham, NC, ²Duke University School of Medicine, Department of Biostatistics and Bioinformatics, Durham, NC, ³Duke University, Department of Biomedical Engineering, Durham, NC, ⁴Duke University Hospital, Durham, NC
Background/Purpose: Genetic studies of new-onset juvenile dermatomyositis (JDM) exhibit elevation of Type 1 interferons (IFN 1) IFNα and IFNβ in blood, skin, and muscle. To…
Abstract Number: 034 • 2023 Pediatric Rheumatology Symposium
STAT3 Gain-of-function Syndrome Mutations Are Susceptible to JAK Inhibition Despite a Spectrum of Potency
Herda Ona¹, Justin Branch², Isabella Osuna¹, Priscilla vasquez², Anaid Reyes¹, Phillip Baker¹, Michael Clowers¹, Stephanie Wood¹ and Tiphanie Vogel¹, ¹Baylor College of Medicine, Houston, TX, ²Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: STAT3 gain-of-function (GOF) syndrome is a rare inborn error of immunity that leads to early-onset lymphoproliferation, autoimmune cytopenias, multi-solid organ autoimmunity, hypogammaglobulinemia, and short…
Abstract Number: 128 • 2023 Pediatric Rheumatology Symposium
Multisystem Inflammatory Syndrome in Children and Systemic Juvenile Idiopathic Arthritis Share Clinical Phenotypes and Genetic Contributions
Paul Tsoukas¹, Hua Lu², Marla Mendes de Aquino², Michael Ombrello³, Lisa Strug² and Rae Yeung⁴, ¹The Hospital of Sick Children, Department of Paediatrics, University of Toronto, Division of Rheumatology; Cell Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, North Bethesda, MD, ⁴The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Background/Purpose: Multisystem inflammatory syndrome in children (MIS-C) is a novel clinical entity presenting following SARS CoV2 infection. This study describes a subgroup of MIS-C patients…
Abstract Number: L12 • ACR Convergence 2022
First Line Treatment Using Recombinant IL-1Receptor Antagonist in New Onset Systemic Juvenile Idiopathic Arthritis Is an Effective Treatment Strategy, Irrespective of HLA DRB1 Background
Remco Erkens¹, Rashmi Sinha², Alex Pickering³, Grant Schulert⁴, Alexei Grom⁴, Lars van der Veken¹, Hanneke van Deutekom¹, Jorg Calis¹, Jorg van Loosdregt⁵ and Sebastiaan Vastert¹, ¹University Medical Center Utrecht, Utrecht, Netherlands, ²Systemic JIA Foundation, Cincinnati, OH, ³Systemic JIA Foundation, San Francisso, CA, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵University Medical Center Utrecht, Wilhelmina Children's Hospital, Zeist, Netherlands
Background/Purpose: Systemic Juvenile Idiopathic Arthritis (sJIA) is a severe subtype of JIA. Recently, interstitial lung disease (SJIA-LD) has been reported as a severe complication of…
Abstract Number: 0557 • ACR Convergence 2022
VEXAS Syndrome Is Characterized by Blood and Tissues Inflammasome Pathway Activation and Monocyte Dysregulation
Benjamin Terrier¹, Celine Posseme², Marie Temple³, Aurélien Corneau⁴, Francesco Carbone⁵, Eugénie Duroyon³, camille Gobeaux³, Estibaliz Lazaro⁶, Roderau Outh⁷, Guillaume Le Guenno⁸, Francois Lifermann⁹, Marie Berleur¹⁰, Thierry Weitten¹¹, Vivien Guillotin¹², Cédric Lenormand¹³, Hang-Korng Ea¹⁴, Mickael Ménager⁵, Darragh Duffy² and Olivier Kosmider³, ¹National Referral Center for Rare Systemic Autoimmune Diseases, Cochin Hospital, Paris, France, ²Institut Pasteur, Paris, France, ³Cochin Hospital, Paris, France, ⁴Pitié Salpêtrière Hospital, Paris, France, ⁵Institut Imagine, Paris, France, ⁶Bordeaux Hospital University, Bordeaux, France, ⁷CH, Perpignan, France, ⁸CHU, Clermont-Ferrand, France, ⁹Dax Hospital, Dax, France, ¹⁰CH, Versailles, France, ¹¹CHIGAS, Gap, France, ¹²CHU Bordeaux, Bordeaux, France, ¹³CHRU, Strasbourg, France, ¹⁴Lariboisière Hospital, Paris, France
Background/Purpose: Acquired mutations in the UBA1 gene, occurring in myeloid cells and resulting in expression of a catalytically impaired isoform of the enzyme E1, were…
Abstract Number: 1132 • ACR Convergence 2022
Interaction of LOC100507053, ADH1B, and ADH1C with Alcohol Consumption for Elevated Serum Urate Levels and Gout in People of European Ethnicity
Min Hui Chuah¹, Ruth Topless², Gregory Gamble¹, Nicholas Sumpter³, Lisa Stamp⁴, Tony Merriman² and Nicola Dalbeth¹, ¹University of Auckland, Auckland, New Zealand, ²University of Otago, Dunedin, New Zealand, ³University of Alabama at Birmingham, Birmingham, AL, ⁴University of Otago, Christchurch, New Zealand
Background/Purpose: Alcohol consumption is a risk factor for hyperuricaemia and gout. Multiple single nucleotide polymorphisms (SNPs) have been identified as associated with both habitual alcohol…
Abstract Number: 1627 • ACR Convergence 2022
BAFF-var Is a New Predisposing Factor for Primary Sjögren’s Syndrome (pSS) and Impacts Disease Activity
Marie Dulin¹, Maxime Beydon², Bineta Ly³, Veronique Le Guern⁴, Raphaèle Seror⁵, Xavier Mariette⁶ and Gaetane Nocturne⁷, ¹Kremlin Bicêtre Hospital - APHP, Paris, France, ²Université Paris Cité, Paris, France, ³INSERM UMR1184, Le Kremlin Bicêtre, France, ⁴Hôpital Cochin, Paris, France, ⁵University Hospital Paris-Saclay, Le Kremlin Bicêtre, France, ⁶Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ⁷APHP, Le Kremlin Bicêtre, France
Background/Purpose: Chronic B cell activation plays a key role in pSS pathogeny. BAFF (B-cell activating factor) is largely involved in this process and positive results…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
Abstract Number: 1134 • ACR Convergence 2022
Genome-wide Association Study Identifies Novel Loci for Leukopenia Among TPMT and NUDT15 Normal Metabolizers Taking Azathioprine
Jacy Zanussi, Puran Nepal, Alyson Dickson, Laura Daniel, Peter Straub, Tyne Miller-Fleming, Wei-Qi Wei, Adriana Hung, Nancy Cox, Vivian Kawai, Jonathan Mosley, Michael Stein, QiPing Feng, Ge Liu, Ran Tao and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Azathioprine is a thiopurine drug used for the treatment of several inflammatory and autoimmune conditions. However, its use is limited due to side effects,…
Abstract Number: 1633 • ACR Convergence 2022
Genetic Risk, Adherence to a Healthy Lifestyle, and Incident Gout in US Women and Men
Kehuan Lin¹, Natalie McCormick¹, Leo Lu², amit johi³, Chio Yokose⁴ and Hyon Choi⁵, ¹Massachusetts General Hospital, Boston, MA, ²Arthritis Research Canada, Vancouver, BC, Canada, ³Regeneron, Boston, MA, ⁴Massachusetts General Hospital, Waltham, MA, ⁵MASSACHUSETTS GENERAL HOSPITAL, Lexington, MA
Background/Purpose: Lifestyle and genetic factors have been independently related to incident gout risk. However, it remains unknown whether the genetic risk of gout is affected…
Abstract Number: 0567 • ACR Convergence 2022
Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis
Adriana Almeida de Jesus¹, Guibin Chen², Dan Yang², Tomas Brdicka³, Natasha Ruth⁴, David Bennin⁵, Dita Cebecauerova⁶, Hana Malcova⁷, Helen Freeman⁸, Neil Martin⁹, Karel Svojgr⁶, Murray Passo⁴, Farzana Bhuyan¹⁰, Sara Alehashemi¹¹, Andre Rastegar¹², Kat Uss¹², Lela Kardova¹², Iris Duric³, Ebun Omoyinmi¹³, Petra Peldova⁶, Chyi-Chia Richard Lee¹⁴, David Kleiner¹⁴, Colleen Hadigan¹⁵, Stephen Hewitt¹⁴, Stefania Pittaluga¹⁴, Carmelo Carmona-Rivera¹⁶, Katherine R. Calvo¹⁵, Nirali Shah¹⁴, Miroslava Balascakova⁶, Danielle Fink¹⁷, Radana Kotalova⁶, Zuzana Parackova⁶, Lucie Peterkova⁶, Daniela Kuzilkova⁶, Vit Campr⁶, Lucie Sramkova⁶, Stephen Brooks¹⁶, Eric Meffre¹⁸, Rebecca Harper², Hyesun Kuehn¹⁵, Mariana Kaplan¹⁶, Paul Brogan¹⁹, Sergio Rosenzweig¹⁵, Zuoming Deng¹⁶, Anna Huttenlocher⁵, Susan Moir¹², Douglas Kuhns¹⁷, Manfred Boehm², Karolina Skvarova Kramarzova²⁰ and Raphaela Goldbach-Mansky²¹, ¹NIAID, NIH, Silver Spring, MD, ²National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic, ⁴Medical University of South Carolina, Charleston, SC, ⁵Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI, ⁶Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, Czech Republic, ⁷Second Faculty of Medicine, Charles University/University Hospital Motol, Praha, Czech Republic, ⁸Raigmore Hospital, Inverness, Scotland, United Kingdom, ⁹Royal Hospital for Children, Glasgow, Scotland, United Kingdom, ¹⁰National Institutes of Health, Bethesda, MD, ¹¹NIH/NIAID/TADS, Clarksville, MD, ¹²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹³Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵Clinical Center, National Institutes of Health, Bethesda, MD, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ¹⁸Yale University, New Haven, CT, ¹⁹UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²⁰Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, ²¹NIH/NIAID, Potomac, MD
Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…
Abstract Number: 1137 • ACR Convergence 2022
MHC Class I Polypeptide-Related Sequence a Variant Predicts Real-World Response to Anti-TNF Therapy
Kristin Wipfler¹, Joshua Baker² and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Nebraska Medical Center, Omaha, NE
Background/Purpose: MHC class I polypeptide-related sequence A (MICA) is a protein involved in the activation of NK and T cells. Variants within the MICA gene…
Abstract Number: 1645 • ACR Convergence 2022
Evaluating the Use of Genetic Risk Scores as Part of an Integrated Risk Tool for Predicting Coronary Artery Disease in Patients with Rheumatoid Arthritis
Mehreen Soomro¹, Michael Stadler¹, Sebastien Viatte¹, Alex Macgregor², Suzanne Verstappen¹, Anne Barton¹ and John Bowes¹, ¹The University of Manchester, Manchester, United Kingdom, ²The University of East Anglia, Norwich, United Kingdom
Background/Purpose: Patients with rheumatoid arthritis (RA) have a higher prevalence of coronary artery disease (CAD) than the general population, which contributes to early mortality. However,…
Abstract Number: 0594 • ACR Convergence 2022
Identification of Peptidylglycine Alpha-Amidating Monooxygenase as a Regulator of Tissue Damage Mediated by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Dorris¹, Christopher Buckley² and Anthony Wilson¹, ¹University College Dublin, Dublin, Ireland, ²University of Oxford, Oxford, United Kingdom
Background/Purpose: The minor C allele variant of rs26232 SNP, located within the first intron of the Macrophage Immunometabolism regulator (MACIR) gene, is associated with both…

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