Abstracts tagged "genetics"

Abstract Number: 1354 • ACR Convergence 2024
The Association of Genetic Variation in PTPN22 and Rheumatoid Arthritis Disease Activity
Thomas Riley¹, Austin Wheeler², Bryant England², grant Cannon³, Sauer brian⁴, Gary Kunkel⁵, Katherine Wysham⁶, Beth Wallace⁷, Rachel Elam⁸, Paul Monach⁹, Andreas Reimold¹⁰, Gail Kerr¹¹, Isaac Smith¹², John Richards¹³, Iris Lee¹⁴, Rui Xiao¹⁵, Scott Damrauer¹⁵, Michael George¹⁵, Ted Mikuls² and Joshua Baker¹⁵, ¹Hopsital of the University of Pennsylvania, Philadelphia, PA, ²University of Nebraska Medical Center, Omaha, NE, ³University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁴Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁵University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁶VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁷Michigan Medicine, VA Ann Arbor Healthcare System, Ann Arbor, MI, ⁸Augusta University, Evans, GA, ⁹VA Boston Healthcare System, Boston, MA, ¹⁰Dallas VA Medical Center, Dallas, TX, ¹¹Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ¹²Duke University Hospital, Durham, NC, ¹³Veterans Affairs Pittsburgh Healthcare System, Pittsburgh, PA, ¹⁴Washington University in St Louis, Saint Louis, MO, ¹⁵University of Pennsylvania, Philadelphia, PA
Background/Purpose: PTPN22 R620W is a common genetic variation that is a known risk factor for the development of autoimmune disease, including rheumatoid arthritis (RA). This…
Abstract Number: 2145 • ACR Convergence 2024
Study of Bone Metabolism in Patients Diagnosed with Osteogenesis Imperfecta.
Daniel Ramos Castro¹, SAMUEL LEAL², Elena Grau García³, JOSE ELOY OLLER RODRIGUEZ⁴, José Ivorra-Cortés⁵, Carmen Riesco Barcena⁶, Anderson Huaylla Quispe⁷, Pablo Muñoz Martínez⁸, Laura Mas Sánchez⁹, Alba Torrat noves¹⁰, Belén Villanueva Mañés¹¹, Iago Alcántara Álvarez¹², Andrés Pérez Hurtado¹, Miguel Simeo Vinaixa¹¹ and Jose A Román-Ivorra¹³, ¹Rheumatology Department. HUP La Fe, Valencia, Spain, ²Hospital La Fe, Valencia, Spain, ³HUP La Fe, Valencia, Spain, ⁴HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE, VALENCIA, Spain, ⁵Hospital Universitario La Fe, PALMA DE MALLORCA, Spain, ⁶Hospital Universitario i Politecnic La Fe (Valencia-Spain), Valéncia, Spain, ⁷Medicina, Valéncia, Spain, ⁸Hospital Universitario y Politècnico La Fe, Sagunto, Spain, ⁹Resident at Hospital Universitari i Politecnic La Fe, Valéncia, Spain, ¹⁰Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Comunidad Valenciana, Spain, ¹¹Rheumatology Department. HUP La Fe, Valencia, Comunidad Valenciana, Spain, ¹²Hospital Universitari i Politècnic La Fe, Valéncia, Comunidad Valenciana, Spain, ¹³Hospital Universitari i Politècnic la Fe, Valencia, Comunidad Valenciana, Spain
Background/Purpose: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder (90% autosomal dominant) characterized by a disruption in type 1 collagen or proteins associated with…
Abstract Number: 0897 • ACR Convergence 2024
Dynamic eQTLs from Activated Human B Cells Suggest Cell-state Dependent Effects for GWAS Risk Variants in BLK
Yao Fu, David Murphy, Richard Pelikan, Jeniffer Kelly, Kiely Grundahl, Satish Pasula, Kandice Tessneer and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex genetic disease in which B cells play a critical role in pathogenesis. Previous genome-wide association studies (GWAS)…
Abstract Number: 1355 • ACR Convergence 2024
Genetically-determined Variation in C-reactive Protein Impacts Disease Activity Assessment in Rheumatoid Arthritis
Thomas Riley¹, Austin Wheeler², grant Cannon³, Sauer brian⁴, Gary Kunkel⁵, Katherine Wysham⁶, Bryant England², Kristin Wipfler⁷, Kaleb Michaud², Beth Wallace⁸, Rachel Elam⁹, Paul Monach¹⁰, Andreas Reimold¹¹, Gail Kerr¹², Isaac Smith¹³, John Richards¹⁴, Iris Lee¹⁵, Michael March¹⁶, Scott Damrauer¹⁷, Anurag Verma¹⁷, Michael George¹⁷, Ted Mikuls² and Joshua Baker¹⁷, ¹Hopsital of the University of Pennsylvania, Philadelphia, PA, ²University of Nebraska Medical Center, Omaha, NE, ³University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁴Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁵University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁶VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁷FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ⁸Michigan Medicine, VA Ann Arbor Healthcare System, Ann Arbor, MI, ⁹Augusta University, Evans, GA, ¹⁰VA Boston Healthcare System, Boston, MA, ¹¹Dallas VA Medical Center, Dallas, TX, ¹²Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ¹³Duke University Hospital, Durham, NC, ¹⁴Veterans Affairs Pittsburgh Healthcare System, Pittsburgh, PA, ¹⁵Washington University in St Louis, Saint Louis, MO, ¹⁶Children's Hospital of Philadelphia, Philadelphia, ¹⁷University of Pennsylvania, Philadelphia, PA
Background/Purpose: C-reactive protein (CRP) is often used as a biomarker for disease activity in patients with rheumatoid arthritis (RA). We evaluated whether rs1205, a common…
Abstract Number: 2190 • ACR Convergence 2024
Uncovering Inborn Errors of Immunity in Pediatric Rheumatology
Maleewan Kitcharoensakkul¹, Natsumon Udomkittivorakul¹, Tarin Bigley¹, Lance Peterson², Kevin Baszis³ and Megan Cooper², ¹Washington University in St. Louis, St. Louis, ²Washington University School of Medicine, St. Louis, MO, ³Washington Univ in St. Louis School of Medicine, St Louis, MO
Background/Purpose: Immune dysregulation, including autoimmunity, is one of the known clinical manifestations of inborn errors of immunity (IEI). We aim to evaluate IEI discovered by…
Abstract Number: 0903 • ACR Convergence 2024
Distinct Impacts of Mosaic Loss of Chromosome Y and Genetic Risk on the Age of Onset in Patients with Rheumatoid Arthritis
Shunsuke Uchiyama¹, Yuki Ishikawa², Katsunori Ikari³, Suguru Honda⁴, Yoichiro Kamatani⁵, Takahisa Gono⁶, Masataka Kuwana⁷ and Chikashi Terao⁸, ¹Nippon Medical school/ RIKEN, Tokyo, Japan, ²RIKEN, Yokohama, Japan, ³Tokyo Women's Medical University, Shinjuku, Japan, ⁴Tokyo Women's Medical University, Tokyo, Japan, ⁵Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan, ⁶Nippon Medical School Graduate School of Medicine, Tokyo, Japan, ⁷Department of Allergy and Rheumatology, Nippon Medical School, Tokyo, Japan, Tokyo, Japan, ⁸RIKEN, Tokyo, Japan
Background/Purpose: The age of onset of rheumatoid arthritis (RA) is becoming older worldwide. Since patients with late-onset RA (LORA) have unique clinical characteristics, including acute…
Abstract Number: 1365 • ACR Convergence 2024
Clinical Conditions Associated with Genetic Predisposition to Rheumatoid Arthritis in Real-World Settings
Hui Yu¹, Puran Nepal², Laura Daniel³, Marco Barbero Mota⁴, Gul Karakoc⁵, Maria Carpintero¹, C. Michael Stein⁶, Cecilia P. Chung¹, Yan Guo¹ and Vivian K. Kawai⁶, ¹University of MIami, Miami, FL, ²Vanderbilt University Medical Center, Vanderbilt, TN, ³University of Miami, Nashville, TN, ⁴Vanderbilt University, Nashville, TN, ⁵Vanderbilt University Medical Center, Mt. Pleasant, SC, ⁶Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Rheumatoid arthritis (RA) is a multisystem disease with a strong genetic component and multiple comorbidities. Genome wide association studies (GWAS) have identified single nucleotide…
Abstract Number: 2201 • ACR Convergence 2024
Immunodeficiency-Related Monogenic Autoinflammatory Diseases; Expanding Spectrum of Immunodysregulation Disorders
Alhanouf Alsaleem¹, Lujain Akbar² and Sulaiman Al-Mayouf³, ¹KFSH&RC, Riyadh, Saudi Arabia, ²RIYADH, RIYADH, Saudi Arabia, ³KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Human inborn errors of immunity are caused by monogenic germline mutations characterized by Immunodeficiency like features with increase susceptibility to infection as well as…
Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1424 • ACR Convergence 2024
Associations of Human Leukocyte Antigens (HLA) Class II with Interstitial Lung Disease (ILD) in Patients with Systemic Autoimmune Rheumatic Diseases (SARDs). A Prospective Study in Sequential Patients with SARD-ILD
Panagiotis Panagopoulos¹, Loukas chatzis², Vasiliki Kitsiou³, Katerina Tarassi³, Eirini Chatzinikita⁴, Katerina Malagari⁵, Theodoros Vassilakopoulos⁴, Alexandra Tsirogianni³, Andreas Goules⁶ and Athanasios Tzioufas⁷, ¹Department of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ²Pathophysiology Department, Athens School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Cholargos Athens, Greece, ³Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece, ⁴Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ⁵2nd Department of Radiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ⁶GENERAL HOSPITAL LAIKO ATHENS, Athens, Greece, ⁷LAIKO HOSPITAL, Athens, Greece
Background/Purpose: Genetic studies in various systemic autoimmune rheumatic diseases (SARDs) support that human leukocyte antigen (HLA) class II alleles are associated with specific autoimmune disorders…
Abstract Number: 2202 • ACR Convergence 2024
Evolving Phenotypic and Genotypic Spectrum of Human ISG15 and USP18 Deficiencies
Alhanouf Alsaleem¹, Wafaa Abdulghaffar², Lujain Akbar³, Meshal Alhassan⁴, Fatimah Alkhars⁵ and Sulaiman Al-Mayouf⁶, ¹KFSH&RC, Riyadh, Saudi Arabia, ²KFSHRC, RIYADH, RIYADH, ³RIYADH, RIYADH, Saudi Arabia, ⁴Imam Abdulrahman Bin Faisal University, DAMMAM, ⁵Maternity and children hospital, ALHASSA, ⁶KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Loss of negative regulator in ISG15 and USP18 results in recently described immunodysregulatory disorders with diversity of clinical characteristics related to enhanced IFN-a/b immunity.…
Abstract Number: L02 • ACR Convergence 2023
Mutational Analysis of UNC93B1 Identifies Regulatory Regions Mutated in Human SLE
John Huizar¹, Victoria Rael², Julian Yano², Leianna Slayden³, Madeleine Weiss⁴, Robert Saxton⁴, Bo Liu⁵, Olivia Majer⁶ and Gregory Barton⁷, ¹UCSF, San Francisco, CA, ²Division of Immunology and Molecular Medicine, Department of Molecular and Cell Biology, UC Berkeley, Berkeley, CA, ³HHMI at UC Berkeley, Berkeley, CA, ⁴UC Berkeley, Berkeley, CA, ⁵Institut Pasteur of Shanghai, Chinese Academy of Sciences, Shangai, China, ⁶Max Planck Institute for Infection Biology, Berlin, Germany, ⁷UC Berkeley / HHMI, Berkeley, CA
Background/Purpose: Endosomal nucleic acid-sensing toll-like receptors 3, 7 and 9 are key innate immune sensors of dsRNA, ssRNA and ssDNA, respectively, whose activities must be…
Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Jerome Hadjadj¹, Yann Nguyen¹, Dalila Mouloudji¹, Rim Bourguiba¹, Mael Heiblig², Aloui Hassina¹, Valentin Lacombe³, Samuel Ardois⁴, Corrado Campochiaro⁵, Alexandre Maria⁶, Thibault Comont⁷, Estibaliz Lazaro⁸, Francois Lifermann⁹, Guillaume Le Guenno¹⁰, Herve Lobbes¹⁰, Roderau Outh¹¹, Julien Campagne¹², Cyrille Coustal⁶, Alice Garnier¹³, Yvan Jamilloux², Aurore Meyer¹⁴, Noemie Abisror¹⁵, Olivier Kosmider¹, Vincent Jachiet¹, Olivier FAIN¹⁶, Benjamin Terrier¹⁷, Arsene Mekinian¹ and Sophie Georgin-Lavialle¹⁸, ¹APHP, Paris, France, ²Lyon Hospital, Lyon, France, ³Angers Hospital, Angers, France, ⁴Rennes Hospital, Rennes, France, ⁵San Raffaele Scientific Institute, Milan, Italy, ⁶Montpellier Hospital, Montpellier, France, ⁷Oncopole Toulouse, Toulouse, France, ⁸Bordeaux Hospital University, Pessac, France, ⁹Dax Hospital, Dax, France, ¹⁰Clermont Hospital, Clermont Ferrand, France, ¹¹Perpignan Hospital, Perpignan, France, ¹²Hpital Robert Schuman, Metz, France, ¹³Nantes Hospital, Nantes, France, ¹⁴Strasbourg Hospital, Strasbourg, France, ¹⁵Internal Medicine Saint Antoine Hospital, Paris, France, ¹⁶Hopital Saint Antoine APHP, Paris, France, ¹⁷Cochin Hospital, Paris, France, ¹⁸AP-HP, Tenon hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…

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