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: 0601 • ACR Convergence 2022
Occupational Inhaled Agents Constitute Major Risk Factors for Rheumatoid Arthritis, Particularly in the Context of Genetic Predisposition and Smoking
Bowen Tang¹, Qianwen Liu², Anna Ilar³, Pernilla Wiebert², Sara Hägg¹, Leonid Padyukov², Lars Klareskog², Lars Alfredsson² and Xia Jiang², ¹Karolinska Institutet, Solna, Sweden, ²Karolinska Institutet, Stockholm, Sweden, ³The National Board of Health and Welfare, Stockholm, Sweden
Background/Purpose: The lung is recognized as a primary site in the induction of rheumatoid arthritis (RA). Our study aims to assess the effect of common…
Abstract Number: 1142 • ACR Convergence 2022
The Lupus Risk Allele Associated Xq28 Haplotype Identifies the Molecular Endotype of a Cohort of European SLE Patients with Enhanced IRAK1 Signaling
Rheyanna Clemens¹, Tyson Dawson¹, Katherine Owen², Amrie Grammer³ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL LLC, Charlottesville, VA
Background/Purpose: Previous genetic association studies identified a 9 gene region of Xq28 containing IRAK1 as a risk locus for SLE. IRAK1 plays key roles downstream…
Abstract Number: 1720 • ACR Convergence 2022
FASlpr Gene Dosage Differentiates Lymphoproliferative from Non-lymphoproliferative Autoimmunity – a Novel Mouse Model of Lupus
Ritu Bohat¹, Chunyu Xu¹, Xiaofang Liang¹, Yanping Chen¹, Ningbo Zheng¹, Roshni Jaffery¹, Ashley Guerrero¹, Nicholas Egan¹, John Hicks², Chandra mohan¹ and Weiyi Peng¹, ¹University of Houston, Houston, TX, ²Baylor College of Medicine, Houston, TX
Background/Purpose: Sle1 and FASlpr are two lupus susceptibility loci that lead to manifestations of systemic lupus erythematosus (SLE) by altering the FAS/FASL pathway and adaptive…
Abstract Number: 0617 • ACR Convergence 2022
Killer Cell Immunoglobulin Receptor and Class I HLA Genetic Variability in South-eastern Spanish Rheumatoid Arthritis Patients
Pablo Mesa-del-Castillo B.¹, Lourdes Gimeno Arias¹, Jose Miguel Bolarin², Luis Francisco Linares Ferrando¹, Alfredo Minguela-Puras¹ and Carlos Marras Fernández Cid¹, ¹Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain, ²IT Tecnological Center (CENTIC), Murcia, Spain
Background/Purpose: Rheumatoid arthritis (RA) is a common chronic inflammatory disorder characterized by bone erosions and progressive joint destruction. Genetic, epigenetic and environmental factors may induce…
Abstract Number: 1146 • ACR Convergence 2022
Genetic Interactions Between T-Cell Receptor Polymorphisms and HLA Amino Acids Contribute to the Risk of Rheumatoid Arthritis
Chuan Fu Yap¹, Paul Martin², Darren Plant¹, John Bowes¹, Kazuyoshi Ishigaki³, Saori Sakaue⁴, Alex Macgregor⁵, Suzanne Verstappen¹, Anne Barton¹, Soumya Raychaudhuri⁶ and Sebastien Viatte¹, ¹The University of Manchester, Manchester, United Kingdom, ²The University of Manchester, Oberhaching, Germany, ³Riken, Bunkyo-ku, Tokyo, Japan, ⁴Broad Institute of Harvard and MIT, Cambridge, MA, ⁵The University of East Anglia, Norwich, United Kingdom, ⁶Brigham and Women's Hospital, Boston, MA
Background/Purpose: Rheumatoid arthritis (RA) genetic susceptibility has been well studied with five amino acid positions within the HLA explaining most of the association. Although genome…
Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 0639 • ACR Convergence 2022
Association of Gut Microbiome Streptococcus, Health Status, Cytokines, and HLA Class in Anti-Ro+ Mothers of Children with Neonatal Lupus: Insights into Progression of Clinical Autoimmunity
Robert Clancy¹, Joel Guthridge², Miranda Marion³, Hannah Ainsworth⁴, Marci Beel², Christina Firl⁵, Nicola Fraser⁶, Nour Hachemian⁵, Timothy Howard⁴, Peter Izmirly¹, Mala Masson⁷, Melissa Munroe², Jill Buyon¹, Judith James² and Carl Langefeld⁸, ¹NYU Grossman School of Medicine, New York, NY, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Wake Forest University, Winston-Salem, NC, ⁴Wake Forest School of Medicine, Winston-Salem, NC, ⁵NYU Langone Health, New York, NY, ⁶NYU School of Medicine, New York, NY, ⁷NYU Langone Medical Center- Division of Rheumatology, New York, NY, ⁸Wake Forest School of Medicine, Winston Salem, NC
Background/Purpose: High titer anti-Ro+ mothers of children with neonatal lupus (NL), often completely asymptomatic, offer a unique opportunity to uncover insights into permissive and protective…
Abstract Number: 1148 • ACR Convergence 2022
GWAS Identified New Genes in Synovial Fibroblasts Linked to Early Remission in RA
Marc Maurits¹, lydia Abasolo Alcazar², Erik van den Akker³, Johan Askling⁴, Anne Barton⁵, Stephan Blüml⁶, Stephan Böhringer⁷, Andrew Cope⁸, Paul Emery⁹, Stephen Eyre⁵, Priya Gaddi⁵, Isidoro Gonzalez¹⁰, Carl Goodyear¹¹, Annette van der Helm-van Mil¹², Xinli Hu¹³, Tom Huizinga³, John D Isaacs¹⁴, Scott Jelinsky¹³, Martina Johannesson⁴, Samantha Jurado Zapata³, Changlin Ke³, Lars Klareskog⁴, Dennis Lendrem¹⁵, Myles Lewis¹⁶, Mingdong Liu³, Paul Martin¹⁷, Iain B McInnes¹⁸, Raphael Micheroli¹⁹, Ann Morgan²⁰, Fraser Morton¹¹, Najib Naamane¹⁵, Gisela Orozco⁵, Caroline Ospelt²¹, Leonid Padyukov⁴, Caron Paterson¹¹, Darren Plant⁵, Duncan Porter²², Arthur Pratt²³, Soumya Raychaudhuri²⁴, Louise Reynard¹⁵, Luis Rodriguez-Rodriguez²⁵, Daniela Sieghart²⁶, Paul Studenic⁶, John Taylor²⁷, René Toes³, Marloes Verstappen³, Suzanne Verstappen⁵, Helga Westerlind⁴, Aaron Winkler¹³ and Rachel Knevel³, ¹LUMC, Leiden, Netherlands, ²IDISSC Hospital Clinico San Carlos, Madrid, Spain, ³Leiden University Medical Center, Leiden, Netherlands, ⁴Karolinska Institutet, Stockholm, Sweden, ⁵The University of Manchester, Manchester, United Kingdom, ⁶Medical University of Vienna, Vienna, Austria, ⁷Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Leiden, Netherlands, ⁸King's College London, Surrey, United Kingdom, ⁹Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom, ¹⁰Hospital Universitario de La Princesa, Madrid, Spain, ¹¹University of Glasgow, Glasgow, Scotland, United Kingdom, ¹²Leiden University Medical Center, Erasmus Medical Center, Leiden, Netherlands, ¹³Pfizer Inc., Cambridge, MA, ¹⁴Institute for Translational and Clinical Research, Newcastle University and Musculoskeletal Unit, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom, ¹⁵Newcastle University, Newcastle, United Kingdom, ¹⁶Queen Mary University of London, London, United Kingdom, ¹⁷The University of Manchester, Oberhaching, Germany, ¹⁸Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom, ¹⁹University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland, ²⁰University of Leeds, Leeds, United Kingdom, ²¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ²²Gartnavel General Hospital, Bearsden, United Kingdom, ²³Newcastle University, Newcastle upon Tyne, United Kingdom, ²⁴Brigham and Women's Hospital, Boston, MA, ²⁵Instituto de Investigación Sanitaria San Carlos, Rheumatology, Madrid, Spain, ²⁶Division of Rheumatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria, ²⁷University of Leeds, Euclid, OH
Background/Purpose: In order to understand the genetic factors that lead to early remission in RA, we performed a GWAS to uncover important biological pathways.Methods: We…
Abstract Number: 1853 • ACR Convergence 2022
A Comparitive Study of NLRP3- and NLRP12-autoinflammatory Disease
Mark Yun, Brianne Navetta-Modrov, Hafsa Nomani, Jie Yang and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: NLRP3-associated autoinflammatoy disease (NLRP3-AID) and NLRP12-AID are rare autosomal dominant diseases. FACS1(familial cold autoinflammatory syndrome type 1), a subset of NLRP3-AID, is thought to…
Abstract Number: 0656 • ACR Convergence 2022
Association Study Identified HLA-DQA1 as a Genetic Risk of Systemic Lupus Erythematosus-associated Pulmonary Arterial Hypertension
Junyan Qian¹, Ying Chen², Xinzhuang Yang³, Qian Wang⁴, JIULIANG ZHAO⁵, Xiaoyue Deng¹, Shengjie Li³, Yongtai Liu⁶, Zhuang Tian⁶, Juan Shen², Qijun Liao², Yanhong Wang⁷, Xianbo Zuo⁸, Xuejun Zhang⁹, MENGTAO LI¹, Yong Cui⁸, Xueqing Yu¹⁰ and Xiaofeng Zeng¹¹, ¹Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, State Key Laboratory of Complex Severe and Rare Diseases, Ministry of Science & Technology, Beijing, China, ²BGI-Shenzhen, Shenzhen, China, ³Medical Research Center, State Key laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ⁴Peking Union Medical College Hospital, Beijing, China, ⁵Beijing Union Medical College Hospital, Beijing, China, ⁶Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China, ⁷Department of Epidemiology and Bio-statistics, Institute of Basic Medical Sciences, China Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ⁸Department of Dermatology, China-Japan Friendship Hospital, Beijing, China, ⁹Institute of Dermatology, Anhui Medical University, Hefei, China, ¹⁰Division of Nephrology, Guangdong Provincial People’s Hospital and Guangdong Academy of Medical Sciences, Guangzhou, China, ¹¹Department of Rheumatology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Beijing, China
Background/Purpose: Pulmonary arterial hypertension (PAH) is a rare and severe complication of systemic lupus erythematosus (SLE). Human leucocyte antigen (HLA) gene variants in the major…

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