Abstracts tagged "genetics"

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…
Abstract Number: 1155 • ACR Convergence 2022
Epigenome-Wide Integrative Association Study on Spondyloarthritis and Psoriatic Arthritis
Elena Carnero-Montoro¹, Ivan Arias-de la Rosa², Clementina Lopez-Medina³, lourdes Ladehesa-Pineda⁴, Rafaela Ortega-Castro², Daniel Toro-Domínguez¹, Manuel Martinez-Bueno¹, Raúl López-Domínguez⁵, Olivia Castellini-Pérez¹, Guillermo Barturen¹, Nuria Barbarroja², Eduardo Collantes² and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²IMIBIC/University of Cordoba/Reina Sofia Hospital, Cordoba, Spain, ³Reina Sofia University Hospital, Rheumatology Department, Jaén, Spain, ⁴Reina Sofia University Hospital/Rheumatology Department/Maimonides Institute for Biomedical Research (IMIBIC), Cordoba, Spain, ⁵University of Granada, Granada, Spain
Background/Purpose: An important role of DNA methylation changes in Spondylitis Ankylosing has been recently demonstrated by epigenome-wide studies. However, there is a lack of genome-wide…

All abstracts accepted to ACR Convergence 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 10:00 AM CT on October 25. 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].