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: 0670 • ACR Convergence 2022
A Short Allelic Epitope Coded by HLA-DRB1*03:01 Activates a Systemic Lupus Erythematosus Cell Aberration Cascade
Bruna Miglioranza Scavuzzi¹, Bhavneet Kaur¹, Vincent Van Drongelen¹, Raquel Mesquita-Ferrari², Amr Sawalha³, Frederick Miller⁴ and Joseph Holoshitz¹, ¹University of Michigan, Ann Arbor, MI, ²Universidade Nove de Julho (UNINOVE), São Paulo, Brazil, ³University of Pittsburgh, Pittsburgh, PA, ⁴Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease resulting from an interaction of genetic, epigenetic, hormonal, environmental and immunoregulatory influences. It has been well…
Abstract Number: 1160 • ACR Convergence 2022
Mapping Spondyloarthritis Susceptibility Loci in B10.RIII Mice
Jyotsna Soundararajan¹, Anu Shivalikanjli², Thomas Keane² and Joerg Ermann³, ¹Brigham and Women's Hospital, Boston, MA, ²European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, United Kingdom, ³Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: Overexpression of IL-23 using IL-23 minicircle DNA in B10.RIII mice results in the development of a spondyloarthritis-like disease. B10.RIII (B10.RIII-H2r H2-T18b/(71NS)SnJ) is a major…
Abstract Number: 1940 • ACR Convergence 2022
Genetic Variants and Cytokine Signatures in Patients with Syndrome of Undifferentiated Recurrent Fevers
Marci Macaraeg, Michael Matt, Grant Schulert, Elizabeth Baker and Elizabeth Handorf, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained, recurrent fevers are a common presentation to pediatric rheumatology and a cause of significant burden to affected families due to days of daycare…
Abstract Number: 0867 • ACR Convergence 2022
Regulatory Haplotype of CXCR4 Is Associated with sJIA and Corelates with Enhanced Neutrophil and CD14+ Monocyte Migration
Hiroto Nakano¹, Emily Shuldiner², Anne Hinks³, Marc Sudman⁴, Elaine Remmers⁵, Colleen Satorius⁶, Elizabeth Schmitz¹, Victoria Arthur⁷, Patricia Woo⁸, Alexei Grom⁹, Dirk Foell¹⁰, John Bohnsack¹¹, Marco Gattorno¹², Seza Ozen¹³, Sampath Prahalad¹⁴, Rae Yeung¹⁵, Elizabeth Mellins², Sheila Oliveira¹⁶, Jordi Antón¹⁷, Claudio Len¹⁸, Carol Lake¹⁹, Ly-Lan Bergeron²⁰, Michelle Millwood²¹, Estefania de los santos²¹, Mariana Correia Marques²², Juvenile Arthritis Consortium for the Immunochip²³, The Genomic Ascertainment Cohort Investigators²⁴, INCHARGE Consortium²⁵, Carl Langefeld²⁶, Susan Thompson²⁷, Wendy Thomson²⁸ and Michael Ombrello¹, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Stanford University, Stanford, CA, ³The University of Manchester, Manchester, United Kingdom, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵National Human Genome Research Institute, Bethesda, MD, ⁶NHGRI, NIH, Bethesda, MD, ⁷Boston Children's Hospital, Boston, MA, ⁸University College London, London, United Kingdom, ⁹Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ¹⁰University Hospital Münster, Münster, Germany, ¹¹University of Utah, Salt Lake City, UT, ¹²Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ¹³Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁴Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁵The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ¹⁶Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹⁸Universidade Federal de São Paulo, São Paulo, Brazil, ¹⁹NIH, Gaithersburg, MD, ²⁰NIH/NIAMS, Vienna, VA, ²¹NIAMS, NIH, Bethesda, MD, ²²National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²³Juvenile Arthritis Consortium for the Immunochip, Bethesda, MD, ²⁴The Genomic Ascertainment Cohort Investigators, Bethesda, MD, ²⁵International Childhood Arthritis Genetics Consortium, Bethesda, MD, ²⁶Wake Forest School of Medicine, Winston Salem, NC, ²⁷Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Blue Ash, OH, ²⁸Manchester Academic Health Science Centre, Manchester, United Kingdom
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare inflammatory disease that causes spiking fever, skin rash, chronic arthritis, and inflammation of the heart and…
Abstract Number: 1379 • ACR Convergence 2022
Association of HLA Alleles with Specific Auto-antibodies in an Ancestrally Diverse Population of Childhood Systemic Lupus Erythematosus (SLE)
Nicholas Gold¹, Fangming Liao¹, JingJing Cao¹, Daniela Dominguez¹, Andrea Knight², Deborah Levy³ and Linda Hiraki⁴, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ³Division of Rheumatology, The Hospital for Sick Children; Child Health Evaluative Services, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁴The Hospital for Sick Children, Division of Rheumatology, Department of Paediatrics, University of Toronto, Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease capable of affecting multiple organ systems. Genetic variants in the Human Leukocyte Antigen (HLA) are associated…
Abstract Number: 2019 • ACR Convergence 2022
Fine Mapping of the Sjögren’s Disease and Systemic Lupus Erythematosus DDX6-CXCR5 Risk Interval Reveals Common SNPs with Functional Significance in Immune and Salivary Gland Cells
Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Michelle Joachims¹, Anna Stolarczyk¹, Anna Nagel¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, Hal Scofield¹, Xavier Mariette¹¹, Fai Ng¹², Gunnel Nordmark¹⁰, Betty Tsao¹³ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹³Medical University of South Carolina, Charleston, SC
Background/Purpose: Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) share several characteristics and have similar genome-wide significant associations in the DDX6-CXCR5 locus. Fine mapping of…
Abstract Number: 0912 • ACR Convergence 2022
Associations Between Fatty Acid Amide Hydrolase Variants and Response to Cannabis Use for Pain Management in Rheumatoid Arthritis
Kristin Wipfler¹, Joanna Zeiger², Teresa Simon³, Stuart Kassan⁴ and Kaleb Michaud⁵, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²Canna Research Foundation, Boulder, CO, ³Physicians Research Center Consultant to ForWard, Toms River, NJ, ⁴Colorado Arthritis Associates, Lakewood, CO, ⁵University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Fatty acid amide hydrolase (FAAH) is a serine hydrolase that breaks down the endocannabinoid/cannabinoid receptor agonist anandamide. Variants in the FAAH gene have been…
Abstract Number: 1399 • ACR Convergence 2022
Inflammatory Arthritis Genetic Risk Factors to Predict Treatment Patterns in Rheumatoid Arthritis
Gregory McDermott¹, Jing Cui¹, Rachel Knevel², Kumar Dahal¹, Dana Weisenfeld¹, Priyam Das³, Elizabeth Karlson¹, Su-Chun Cheng⁴, Soumya Raychaudhuri¹, Tianxi Cai⁴ and Katherine Liao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Leiden University Medical Center, Leiden, Netherlands, ³Harvard Medical School, Boston, MA, ⁴Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: In a prior study, we described an alternative method for subphenotyping RA patients by the sequence of biologic DMARDs (bDMARDs) they receive over time.…
Abstract Number: 2020 • ACR Convergence 2022
Autophagy-related Risk Loci in Systemic Lupus Erythematous and Sjögren’s Disease
Anna Nagel¹, Bhuwan Khatri¹, Marcin Radziszewski¹, Mandi Wiley¹, Anna Stolarczyk¹, Michelle Joachims¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, Hal Scofield¹, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Qing Sun¹⁴, Kwangwoo Kim¹⁵, Sang-Cheol Bae¹⁶, Betty Tsao¹⁴, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹⁴Medical University of South Carolina, Charleston, SC, ¹⁵Kyung Hee University, Seoul, Republic of Korea, ¹⁶Hanyang University Medical Center, Seoul, Republic of Korea
Background/Purpose: Dysregulated autophagy is implicated in systemic lupus erythematous (SLE) and Sjögren's disease (SjD), including dysregulated expression of Autophagy-related gene 5 (ATG5) and Autophagy Related…
Abstract Number: 1038 • ACR Convergence 2022
Genetic and Molecular Distinctions Between Axial Psoriatic Arthritis and Ankylosing Spondylitis
Arthur Kavanaugh¹, Xenofon Baraliakos², Sheng Gao³, Warner Chen³, Kristen Sweet³, Soumya Chakravarty⁴, Qingxuan Song³, May Shawi⁵, Frank Behrens⁶ and Proton Rahman⁷, ¹University of California San Diego, San Diego, CA, USA, San Diego, CA, ²Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ³Janssen Research and Development, LLC, Spring House, PA, ⁴Janssen Scientific Affairs, LLC; Drexel University College of Medicine, Villanova, PA, ⁵Immunology Global Medical Affairs, Janssen Pharmaceutical Companies of Johnson & Johnson, Horsham, PA, ⁶Rheumatology University Hospital & Fraunhofer Institute Translational Medicine and Pharmacology, Goethe-University Frankfurt, Frankfurt Am Main, Germany, ⁷Memorial University, St. John's, NL, Canada
Background/Purpose: Despite overlapping symptoms, axial psoriatic arthritis (axPsA) and ankylosing spondylitis (AS) may be distinct disorders with differing clinical manifestations, genetic associations, and radiographic findings.1…

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