Abstracts tagged "genetics"

Abstract Number: 0814 • ACR Convergence 2024
Rare Variants of PAH Risk Genes Associate with a Distinct Vasculopathy Phenotype and Worse Outcomes in Patients with Systemic Lupus Erythematosus-associated Pulmonary Arterial Hypertension
Junyan Qian¹, Xinzhuang Yang², Yu Fang Ding³, qian wang¹, Jiuliang Zhao¹, Weida Liu⁴, Yongtai Liu⁵, Zhuang Tian⁵, Yanhong Wang⁶, Xiaojian Wang⁷, Mengtao Li¹ and Xiaofeng Zeng⁸, ¹Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China 2National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Beijing, China, ²Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ³Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China 2National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, BEIJING, China (People's Republic), ⁴State 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, ⁵Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China, ⁶Department of Epidemiology and Biostatistics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ⁷State Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China, ⁸Department 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: Systemic lupus erythematosus (SLE)-associated pulmonary arterial hypertension (PAH) displays significant clinical heterogeneity; nevertheless, the underlying mechanisms remain unclear. Presently, more than twenty risk genes…
Abstract Number: 0999 • ACR Convergence 2024
Clinical and Biological Features of VEXAS Syndrome in Women: Study of 9 French Cases Compared with 263 Men
Rim Bourguiba¹, Valentin Lacombe², Vincent Jachiet³, Thibault Comont⁴, Joris Galland⁵, Mael Heiblig⁶, Alexandre Nguyen⁷, Achille Aouba⁸, Xavier Boulu⁹, Alexandre Curie¹⁰, Pierre Sujobert¹¹, Pierre Hirsch¹², Olivier Kosmider¹³, Arsene Mekinian¹⁴ and Sophie Georgin-lavialle¹⁵, and French VEXAS study group, ¹Hopital des Forces de sécurité de l'interieur, La Marsa, Tunisia, ²Angers University Hospital, Angers, France, ³Service de Médecine intene, Hopital Saint-Antoine, Paris France, Paris, France, ⁴4 Service de médecine interne, Hopital Toulouse, France, Toulouse, France, ⁵Service de médecine interne, Centre hospitalier de Bourg- En-Bresse, France, Bourg en Bresse, France, ⁶Service de médecine interne, Centre Hospitalier Lyon Sud, Lyon, France, ⁷Service de médecine interne, CHU Cean, France, Cean, France, ⁸Service d'immunologie clinique-médecine interne, CHU de Caen Normandie, Caen, France, ⁹8 Service de médecine interne, CHU Amiens Picardie, France, Amiens, France, ¹⁰Service de médecine interne, CH Eure Seine, France, Eure seine, France, ¹¹Service d'hématologie, Centre Hospitalier Lyon Sud, France, Lyon, Tunisia, ¹²Hopital Saint-Antoine, Paris, France, Paris, France, ¹³Hematology Laboratory, Assistance Publique-Hôpitaux de Paris, Centre-Université de Paris Cité, Cochin Hospital, Paris, France, Paris, France, ¹⁴Saint Antoine University Hospital, Paris, France, ¹⁵Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: VEXAS syndrome is an autoinflammatory disease associated with somatic mutations in the UBA1 gene, which is located on the X chromosome, which explains the…
Abstract Number: 2059 • ACR Convergence 2024
The Rs35705950 Promoter Variant of Muc5b Is Associated with Usual Interstitial Pneumonia in Antisynthetase Syndrome
Daphne Rivero Gallegos¹, Mayra Mejía², Karol J. Nava-Quiroz², Heidegger N. Mateos-Toledo³, Héctor I. Rocha-González⁴, Juan C. Huerta-Cruz³, Espiridion Ramos-Martínez⁵, Gloria Pérez-Rubio³, Ingrid Fricke-Galindo³, Jorge Rojas-Serrano⁶ and Ramcés Falfán-Valencia³, ¹INER, Ciudad de México, Mexico State, Mexico, ²INER, Mexico, Distrito Federal, Mexico, ³INER, Mexico City, Distrito Federal, Mexico, ⁴Instituto Politècnico Nacional, Mexico City, Distrito Federal, Mexico, ⁵UNAM, Ciudad de Mexico, Distrito Federal, Mexico, ⁶National Institute of Respiratory Diseases, Ismael Cosío Villegas, Mexico City, Mexico
Background/Purpose: Rs35705950 variant in the MUC5B gene promoter is a critical genetic risk factor in idiopathic pulmonary fibrosis (IPF). It has been associated with usual…
Abstract Number: 2604 • ACR Convergence 2024
Altered Expression of Ecto-5′-Nucleotidase (NT5E) in SLE Patients Based on Disease-associated Genotype
Mikhail Olferiev¹, Katherine Owen², Peter Lipsky³ and Mary Crow¹, ¹Hospital for Special Surgery, New York, NY, ²RILITE, Charlottesville, VA, ³AMPEL BioSolutions, Charlottesville, VA
Background/Purpose: The NT5E gene, encoding Ecto-5'-Nucleotidase/CD73, is expressed on the surface of immune system cells and is critical for converting AMP/IMP to adenosine/inosine, important immunosuppressive purine nucleosides.…
Abstract Number: 0843 • ACR Convergence 2024
External Validation and Extension of Population-Based Systemic Lupus Erythematosus Risk Prediction Models Using Genetics, and Lifestyle and Environmental Factors
Jacob J.E. Koopman¹, Jing Cui¹, Hongshu Guan¹, Emma Stevens¹, Emily Oakes¹ and Karen Costenbader², ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital/ Harvard Medical School, Boston, MA
Background/Purpose: Many genetic and environmental risk factors for SLE are now known. We have developed SLE risk prediction models, incorporating known genetic, lifestyle, and environmental…
Abstract Number: 1124 • ACR Convergence 2024
Impact of Genetic Predisposition for Type 2 Diabetes in Plasma Glucose Levels After the Administration of a High Dose of Systemic Glucocorticoids
Xiaodi Ruan¹, Michael Williams², Gul Karakoc¹, Elizabeth McNeer¹, Leena Choi¹, Jonathan D. Mosley¹, C. Michael Stein¹ and Vivian K. Kawai¹, ¹Vanderbilt University Medical Center, Nashville, TN, ²VUMC, Nashville, TN
Background/Purpose: Glucocorticoids (GCs) are potent anti-inflammatory drugs that are commonly prescribed, particularly for rheumatic and immunologic conditions. Hyperglycemia is an important adverse effect and occurs…
Abstract Number: 2065 • ACR Convergence 2024
Proposed Pathways Involved in the Pathogenesis of Juvenile Dermatomyositis (JDM)
Samantha Coss¹, Danlei Zhou¹, Rabheh Abdul Aziz², Katherine Miller³, Shoghik Akoghlanian⁴, Kyla Driest¹, Edward Oberle¹, Vidya Sivaraman⁵, Charles Spencer⁶, Stacy Ardoin¹ and Chack-Yung Yu⁷, ¹Nationwide Children's Hospital, Columbus, OH, ²University at Buffalo, Buffalo, NY, ³Nationwide Children's Hospital, Institute for Genomic Medicine, Columbus, OH, ⁴Nationwide Children�s Hospital, Columbus, OH, ⁵Nationwide Children's Hospital/ The Ohio State University, Columbus, OH, ⁶University of Mississippi Medical Center, Jackson, MS, ⁷Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, OH
Background/Purpose: JDM is an autoimmune disease of skin and muscle. We investigated genetic factors, autoantibodies, and clinical features in JDM.Methods: Subjects came from 2 large…
Abstract Number: 2659 • ACR Convergence 2024
A Comprehensive Approach Utilizing a Combination of Genetics, Cytological Analysis, and Imaging Techniques to Speed up the Diagnostic Process in VEXAS Patients
Sara Bindoli¹, Chiara Baggio², Roberto Padoan³, Riccardo Bixio⁴, doria Andrea⁵, Roberta Ramonda² and Paolo Sfriso¹, ¹Rheumatology Unit, University of Padova, Italy, Padova, Veneto, Italy, ²Rheumatology Unit, University of Padova, Italy, Padova, Italy, ³Department of Medicine DIMED, Division of Rheumatology, University of Padua, Padua, Italy, ⁴University of Verona, Verona, Verona, Italy, ⁵University of Padova, Padova, Italy
Background/Purpose: VEXAS is a newly described “haemato-autoinflammatory” condition resulting from somatic mutations in the UBA-1 gene. By integrating genetics, cytology and imaging, this work seeks…
Abstract Number: 0887 • ACR Convergence 2024
Identification of Rare Variants in Lupus-causing Genes in a Mixed Paediatric and Adult Connective Tissue Disease Cohort
Anastasia-Vasiliki Madenidou¹, Gillian Rice², Terence Garner³, Sarah Dyball⁴, Alice Chieng⁵, Ben Parker⁶, Tracy Briggs⁷, Adam Stevens³ and Ian Bruce⁸, ¹Centre for Musculoskeletal Research, The University of Manchester, Manchester, United Kingdom, ²Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, ³Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester and Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, United Kingdom, ⁴Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK, Manchester, United Kingdom, ⁵Department of Rheumatology, Royal Manchester Children's Hospital, Manchester, United Kingdom, Manchester, United Kingdom, ⁶Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom, ⁷Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, Manchester, United Kingdom, ⁸Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
Background/Purpose: Connective tissue diseases (CTDs) are a family of heterogeneous autoimmune diseases with overlapping clinical features. Not all patients with features suggestive of a mendelian…
Abstract Number: 1282 • ACR Convergence 2024
Investigating the Genetics of Depression and Anxiety in Children and Adolescents with and Without Systemic Lupus Erythematosus
Indrani Das¹, Nicholas Gold², Christie Burton¹, Jennifer Crosbie¹, JingJing Cao¹, Daniela Dominguez¹, Sefi Kronenberg³, Lawrence Ng², Alene Toulany¹, Hiu-Ki Rachel Tran¹, Gwyneth Zai⁴, Andrea Knight⁵ and Linda Hiraki², ¹The Hospital for Sick Children, Toronto, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Holland-Bloorview Kids Rehabilitation Hospital., Toronto, Canada, ⁴Centre for Addiction and Mental Health, Toronto, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada
Background/Purpose: Patients with childhood-onset systemic lupus erythematosus (cSLE) have a higher prevalence of depression and anxiety compared to healthy peers. Patients with cSLE also have…
Abstract Number: 2080 • ACR Convergence 2024
HLA-DRB1*11:01 Association Differenciates Anti-hmgcr Immune-mediated Necrotizing Myopathy from Non-immune Mediated Statin Myotoxicity
Cristina Corrales Selaya¹, Diana Prieto-Peña², gonzalo Ocejo-Viñals³, Carmen Secada Gómez⁴, alfonso Corrales-Martínez⁵, Carmen Ibarbia⁶, Zaida Salmón-gonzalez⁶, Marta Martín-millan⁶, Virginia Portilla-González⁶, Nerea mota-perez⁶, M. sebastian-mora gil⁶, J.C Batista-liz⁶, Veronica Pulito-Cueto⁷, Raquel Lopez-mejias⁷, Ricardo Blanco-Alonso⁸ and Jose Luis Hernandez⁶, ¹Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, ²Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Cantabria, Spain, ³Department of Immunology, Marqués de Valdecilla University Hospital (HUMV), Santander, Spain, ⁴Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain, ⁵Hospital Universitario Marques de Valdecilla, Santander, Spain, ⁶Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Spain, ⁷IDIVAL, Santander, Spain, ⁸Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Spain
Background/Purpose: Genetic risk factors may explain why only a small proportion of patients taking statins develop severe cases of anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotizing myopathy…
Abstract Number: 2688 • ACR Convergence 2024
HLA-DRB4: A Novel Susceptibility Locus in Systemic Sclerosis Patients with Severe Calcinosis
Sara Faghihi-Kashani¹, srijana davluri², Kamini Kuchinad³, Zuoming deng⁴, Faiza Naz⁴, Stefania Dell'Orso⁴, Zsuzsanna McMahan⁵, Laura Hummers⁶, Daniel Kastner⁷, Fredrick Wigley³, david fiorentino⁸, Christian Lood⁹, Ami Shah¹⁰, Lorinda Chung¹¹ and Pravitt Gourh⁴, ¹Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, San Francisco, CA, ²Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, Sunnyvale, CA, ³Johns Hopkins University, Division of Rheumatology, Baltimore, MD, Baltimore, MD, ⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁵UTHealth Houston Division of Rheumatology, Houston, TX, ⁶Johns Hopkins University, Division of Rheumatology, Baltimore, MD, Ellicott City, MD, ⁷National Human Genome Research Institute, Bethesda, MD, Bethesda, MD, ⁸Department of Dermatology, Stanford University School of Medicine, Stanford, CA, Palo Alto, CA, ⁹Division of Rheumatology, University of Washington, Seattle, WA, Seattle, WA, ¹⁰Division of Rheumatology, Johns Hopkins University, Ellicott City, MD, ¹¹Stanford University, Woodside, CA
Background/Purpose: Systemic sclerosis (SSc) is a complex autoimmune disease. Class II HLA alleles have been reported to play an important role in SSc pathogenesis. Calcinosis, deposition of…
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: 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…

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