Abstracts tagged "genetics"

Abstract Number: LB21 • ACR Convergence 2025
IDH1/2 Somatic Hotspot Mutations as Independent Drivers of Autoinflammation
Flore Castellan¹, Griffen Mustion², Mei-Kay Wong¹, Kimberly Johansson², Scott Goldberg¹, Yazan Madanat³, Namrata Chandhok⁴, Abhay Singh⁵, David Sallman⁶, Jane Churpek⁷, Curtis Lachowiez⁸, Jennifer Yannucci⁹, Luke Fletcher¹⁰, Matthew Schwede¹¹, Amber Afzal², Yael Kusne¹², Alejandro Marinos¹³, Alexander Coltoff¹⁴, Rickey Myhand¹⁵, Kiran Vij², Rosalyn Marar¹⁶, Hannah Mitchell², Maria Stoentcheva², Giulia Petrone², Kyra Ddungu², Hannah Hartman², Ryan Monahan², Karen Vandervort², Jie Liu², John Cole², Tibor Kovacsovics¹⁷, Hetty Carraway¹⁸, Tian Zhang¹⁹, Stephen Chung³, Geoffrey Uy², Eytan Stein²⁰, Devendra Hiwase²¹, Matthew Walter², Mrinal Patnaik¹⁶, Kelly Bolton²² and David Beck¹, ¹New York University School of Medicine, New York, New York, ²Washington University School of Medicine, Saint Louis, Missouri, ³UT Southwestern Medical Center, Dallas, Texas, ⁴University Miami Miller School of Medicine, Miami, Florida, ⁵Cleveland Clinic, Cleveland, Ohio, ⁶Moffitt Cancer Center, Tampa, Florida, ⁷University of Wisconsin School of Medicine, Madison, Wisconsin, ⁸Oregon Health & Science University, Portland, Oregon, ⁹Low Country Cancer Care, Savannah, Georgia, ¹⁰Willamette Valley Cancer Institute and Research Center, EUgene, Oregon, ¹¹Swedish Health Services, Seattle, Washington, ¹²Mayo Clinic, Phoenix, Arizona, ¹³UTSouthwestern Medical Center, Dallas, Texas, ¹⁴Medical University of South Carolina, Charleston, South Carolina, ¹⁵CovenantOntology & Hematology, Frankfort, Kentucky, ¹⁶Mayo Clinic, Rochester, Minnesota, ¹⁷City of Hope, Goodyear, Arizona, ¹⁸Case Western Reserve University, Cleveland, Ohio, ¹⁹Stanford Medicine, Stanford, California, ²⁰Memorial Sloan Kettering Cancer Center, New York, New York, ²¹Adelaide Medical School, Adelaide, South Australia, Australia, ²²Washington University School of Medicine, Saint Louis, Minnesota
Background/Purpose: Recently, somatic mutations in hematopoietic stem and progenitor cells (HSPCs) have been proposed as a novel mechanism driving systemic inflammation. UBA1 somatic variants in…
Abstract Number: 1701 • ACR Convergence 2025
Gene Editing of HLA-Class II DRB1*04:01 at Position 82 Abrogates Binding of Citrullinated Arthritogenic Peptides and Collagen
Vibha Jha¹, Brian Freed², Niyun Jin¹, Manjula Miglani¹ and Christina Roark², ¹University of Colorado, Aurora, CO, ²Clinimmune Labs Immunology, School of Medicine, Aurora, CO
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease with a strong genetic association to Class II HLA-DRB1*04:01. Presentation of arthritogenic peptides bound to DRB1*04:01…
Abstract Number: 0269 • ACR Convergence 2025
Clinical Landscape and Severity Markers of VEXAS Syndrome in a Spanish Cohort: Findings from VEXASSER Study Group
Paula García-Escudero¹, Marta López², Berta Magallares³, Dolly Viviana Fiallo Suárez⁴, Diego Dios Santos⁵, César Antonio Egües Dubuc⁶, Santos Castañeda⁷, Alicia Garcia⁸, Isla Morante Bolado⁹, Elena María Oliver García¹⁰, Clara Garcia Belando¹¹, Cristina Corrales¹², Francisco Javier Toyos¹³, Judit Font-Urgelles¹⁴, Meritxell Salles Lizarzaburu¹⁵, Carolina Merino¹⁶, Irene Carrion¹⁷, Jose Angel Hernandez¹⁸, Lourdes Villalobos¹⁹, Alina-Lucica Boteanu²⁰, Beatriz Frade Sosa²¹, cristiana Sieiro²², Irene Monjo Henry²³, Ernesto Trallero²⁴, Eugenia Enriquez²⁵, Maria Rodriguez²⁶, Elena Riera Alonso²⁷, Marta Ibañez²⁸, Delia Reina²⁹, Rafael Benito Melero González³⁰, Giuliano Boselli³¹, Alberto Mariano³², Ignacio Vázquez Gómez³³, Jose Alberto Miranda³⁴, Clara Moriano³⁵, Elena Aurrecoechea³⁶, Paloma Vela Casasempere³⁷, Iñigo Rúa-Figueroa³⁸ and Jaime Calvo³⁹, ¹Hospital Universitario Álava, Bilbao, Spain, ²Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ³Hospital de Sant Pau, Bareclona, ⁴H.U. Doctor Negrín, Gran Canarias, ⁵C. H. U. A Coruña, A Coruña, Spain, ⁶Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ⁷Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁸Rheumatologist, La Laguna, Spain, ⁹Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ¹⁰H.C. U. Lozano Blesa, Zaragoza, ¹¹H.C. U. Virgen de la arrizaca, Murcia, ¹²HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹³Virgen Macarena University Hospital,, Sevilla, Spain, ¹⁴Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁵Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ¹⁶Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ¹⁹Ramon y Cajal Hospital, MADRID, Spain, ²⁰H.U. Ramón y Cajal, Madrid, Spain, ²¹Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²²Univrsity of Manchester, Manchester, United Kingdom, ²³Hospital Universitario La Paz, Madrid, Spain, ²⁴H. U. Vall d'Hebron, Barcelona, ²⁵Clínica Universidad de Navarra, Madrid, Spain, ²⁶H. Clínico San Carlos, Madrid, Spain, ²⁷Hospital Universitari Mùtua Terrassa, Terrassa, Spain, ²⁸Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁹Complex Hospitalari Moisès Broggi, Barcelona, Spain, ³⁰C. H. U. de Ourense, Ourense, ³¹Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³²Virgen del Rocío University Hospital, Sevilla, Spain, ³³H.U. Doctor Peset, Valencia, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Hospital León, LEON, Castilla y Leon, Spain, ³⁶H. Sierrallana, Santander, ³⁷Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁸Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, ³⁹Department of Rheumatology, Hospital Universitario Araba, School of Medicne, Universidad del País Vasco, BIOARABA Health Research Institute, Vitoria, Spain, Vitoria, Pais Vasco, Spain
Background/Purpose: VEXAS syndrome is a rare disease caused by somatic mutations in UBA1 gene. Different mutations in this gene appear to be associated with specific…
Abstract Number: 1699 • ACR Convergence 2025
Protein-coding Somatic Genetic Variation in Lymphocytes in Systemic Lupus Erythematosus
Siva Kasinathan¹, Minh Pham² and Ansuman Satpathy², ¹Stanford University School of Medicine, Palo Alto, CA, ²Stanford University School of Medicine, Stanford, CA
Background/Purpose: The genetic and environmental factors underlying pathogenesis of systemic lupus erythematosus (SLE) are incompletely resolved. While inherited genetic variation has been extensively queried in…
Abstract Number: 0240 • ACR Convergence 2025
Behçet’s Disease in a Diverse Urban Single-Center Cohort in the United States: HLA-B Alleles and Clinical Features
Amir Razmjou¹, Alexandra Klomhaus², David Kellner³, Meika Fang⁴, Michael Weisman⁵ and John FitzGerald³, ¹UCLA / Veterans Affairs, Los Angeles, CA, ²UCLA, Los Angeles, ³UCLA, Los Angeles, CA, ⁴VA Greater Los Angeles/UCLA, Los Angeles, CA, ⁵Cedars-Sinai Medical Center, LOS ANGELES, CA
Background/Purpose: Behçet’s disease (BD) is a chronic systemic disease with heterogenous clinical presentations. The strongest genetic risk factor and diagnostic biomarker for BD is the…
Abstract Number: 1523 • ACR Convergence 2025
Genetic architecture and translational insights for SLE progression from preclinical stages
Lida Wang¹, havell Markus¹, Laura Carrel¹, Nancy Olsen², Galen Foulke³ and Dajiang Liu¹, ¹Penn State College of Medicine, Hershey, PA, ²Penn State University/Milton S Hershey, Hershey, PA, ³Penn State Health, Hershey, PA
Background/Purpose: Systemic lupus erythematosus (SLE), have a preclinical phase where individuals display a subset of symptoms, but do not meet the full diagnostic criteria. Identifying…
Abstract Number: 0237 • ACR Convergence 2025
Monogenic autoinflammatory diseases and undefined autoinflammatory syndrome in Western Mediterranean adults: clinical, genetic, and therapeutic insights
Alba Maria Torrat Noves¹, José Ivorra Cortes², Alejandro Jose Mateo Vendrell², ELENA GRAU GARCIA³, Pablo Muñoz Martinez², Laura Mas Sanchez⁴, Daniel Ramos Castro⁵, Iago Alcántara Álvarez⁶, Belen Villanueva Manes⁷, Andres perez Hurtado², Miguel Simeo Vinaixa², inmaculada Calvo Penades⁸, Berta López Montesinos⁸, Lucia Lacruz-perez⁸ and José Andrés Román Ivorra⁹, ¹Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Spain, ²Rheumatology Department. HUP La Fe, Valencia, Spain, ³HUP La Fe, Valencia, Comunidad Valenciana, Spain, ⁴Hospital Universitari i Politecnic La Fe, València, Spain, ⁵Hospital Universitari i Politecnic La Fe, Valencia, Spain, ⁶Hospital Universitari i Politénic La Fe, València, Spain, ⁷Hospital La Fe, València, Spain, ⁸Pediatric Rheumatology Department. HUP La Fe, Valencia, Spain, ⁹Hospital Universitari i Politècnic La Fe, Valencia, Spain
Background/Purpose: Monogenic autoinflammatory diseases are rare innate immunity disorders characterized by recurrent episodes of fever and systemic inflammation. They are most often described in childhood,…
Abstract Number: 1504 • ACR Convergence 2025
High prevalence of clonal hematopoiesis of indeterminate potential (CHIP) somatic mutations in a cohort of 1,073 SLE participants
Richard Oppong¹, Joanne Nititham², Ashira Blazer³, Manuel Ugarte-Gil⁴, Jinoos Yazdany⁵, Maria Dall'Era⁶, Alexander Bick⁷, Lindsey Criswell² and Cristina Lanata⁸, ¹National Institutes of Health, Bethesda, MD, ²NIH/NHGRI, Bethesda, MD, ³University of Maryland Baltimore, Baltimore, Maryland, ⁴Grupo Peruano de Estudio de Enfermedades Autoinmunes Sistémicas, Universidad Científica del Sur, Lima, Peru; Hospital Guillermo Almenara Irigoyen, EsSalud, Lima, Peru, Lima, Peru, ⁵UCSF, San Francisco, CA, ⁶Division of Rheumatology, University of California, San Francisco, CA, ⁷Vanderbilt University, Nashville, TN, ⁸NIH/NHGRI, Bethesda
Background/Purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is characterized by the presence of somatic mutations in hematopoietic stem cells that lead to the expansion of…
Abstract Number: 0174 • ACR Convergence 2025
Genetic and Environmental Risk Factors and Incident Rheumatoid Arthritis
Xuesen Zhao¹, Puran Nepa², Hui Yu³, Laura Daniel², Vivian Kawai⁴, Michael Stein⁵, Yan Guo³ and Cecilia Chung³, ¹University of Miami, Miami, FL, ²University of Miami, Research Service, Miami VA Healthcare System, Miami, FL, ³University of Miami, Miami, ⁴University of Alabama at Birmingham, Birmingham, AL, ⁵Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: While some studies have linked air pollution to risk for rheumatoid arthritis (RA), U.S.-based studies utilizing nationwide exposure data remain limited and often exclude…
Abstract Number: 2679 • ACR Convergence 2025
Early-Life Nutrition and Gene-Environment Interactions Influencing Juvenile Idiopathic Arthritis Risk: Results from a Pregnancy Cohort
Vilde Øverlien Dåstøl¹, Ida Henriette Caspersen², Kristine Løkås Haftorn³, Sigrid Hestetun⁴, Siri Eldevik Håberg⁵, Karen H. Costenbader⁶, Marin Strøm⁷, Sjurdur Frodi Olsen⁸, Anne Lise Brantsæter⁹, Ketil Størdal¹⁰ and Helga Sanner¹, ¹Oslo University Hospital, Oslo, Norway, ²Norwegian Institute of Public Health, Centre for Fertility and Health/Oslo University Hospital, Oslo, Norway, ³Oslo University Hospital, Department of Rheumatology, Oslo, Norway, ⁴Oslo University Hospital, Department of Rheumatology/University of Oslo, Oslo, Norway, ⁵Norwegian Institute of Public Health, Centre for Fertility and Health/University of Bergen, Oslo, Norway, ⁶Harvard Medical School and Brigham and Women's Hospital, Boston, MA, ⁷Statens Serum Institut, Department of Epidemiology Research, Copenhagen, Denmark, ⁸Statens Serum Institut,Biobank, congenital disorders, and vaccines preparedness/Harvard T.H. Chan School of Public Health, Copenhagen, Denmark, ⁹Norwegian Institute of Public Health, Department of Food Safety and Centre for Sustainable Diets, Oslo, Norway, ¹⁰Oslo University Hospital, Department of Pediatric and Adolescent Medicine/University of Oslo, Oslo, Norway
Background/Purpose: Early-life nutrition may influence the risk of immune-mediated diseases like juvenile idiopathic arthritis (JIA). The benefits of breastfeeding are well established, but findings related…
Abstract Number: 1423 • ACR Convergence 2025
Genetic and Cytokine Correlates in Ankylosing Spondylitis: rs27038 polymorphism of ERAP1 gene and IL-17 Interactions : A Case-Control Study
Meghna Gavali¹, Husna Fatima², Bhavya Sirivelu³, Nishanth S³ and Noorjahan M³, ¹nizam's institute of medical sciences ,Hyderabad, Hyderabad, Telangana, India, ²Nizami Institute of Medical Sciences, Hyderabad, Telangana, India, ³Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India
Background/Purpose: Ankylosing Spondylitis (AS) is a chronic inflammatory disorder primarily affecting the axial skeleton and associated with HLA-B27. Non-HLA genes, including ERAP1 (Endoplasmic Reticulum Aminopeptidase…
Abstract Number: 0104 • ACR Convergence 2025
Dissecting the Genetic and Functional Association of CARD9 with Axial Spondyloarthritis
Félicie Costantino¹, Eva Frison², Andrew Brown³, Carla Cohen³, Manon Jacoutot⁴, Gabriele Migliorini³, roula Said-Nahal⁵, Giuseppe Scozzafava³, Paul Bowness⁶, Paul Wordsworth⁶, Henri-Jean Garchon², Simon Glatigny⁴, Maxime Breban⁷ and Julian Knight⁶, ¹Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ²Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny le Bretonneux, France, ³NIHR Oxford Biomedical Research Centre, University of Oxford, Centre for Human Genetics, Oxford, United Kingdom, ⁴Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ⁵Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Boulogne-Billancourt, France, ⁶NIHR Oxford Biomedical Research Centre, University of Oxford, NDORMS, Oxford, United Kingdom, ⁷CHU Ambroise-Paré, Boulogne-Billancourt, France
Background/Purpose: Axial spondyloarthritis (axSpA) is a chronic immune-mediated inflammatory disease with strong genetic predisposition, driven by HLA-B27 and over 100 additional loci identified by genome-wide…
Abstract Number: 2666 • ACR Convergence 2025
Rare TNFAIP3 Hypomorphic Variants are a Massively Underestimated Driver of Human Autoinflammatory Disease
Danica Lee¹, Urekha Karri², Yiming Luo³, Kader Cetin Gedik⁴, Manuel Carpio Tumba⁵, Prabal Chhibbar⁶, Priyamvada Roy⁶, Guido Falduto⁷, Jishnu Das⁵ and Daniella Schwartz⁵, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²School of public health, Pittsburgh, PA, ³Columbia University, New York, NY, ⁴UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, ⁷University of Pittsburgh Medical Center, Pittsburgh, PA
Background/Purpose: TNFAIP3 encodes the ubiquitin editing enzyme A20, which inhibits multiple proinflammatory signaling pathways. Heterozygous germline mutations in TNFAIP3 cause the autoinflammatory disease Haploinsufficiency of…
Abstract Number: 1346 • ACR Convergence 2025
Preliminary Result of Investigating the Response of Conventional Disease-Modifying Antirheumatic Drugs (cDMARDs) Associated SNPs: One Cohort Study
YU Chen¹, Chien-Sheng Wu², Jacob Shujui Hsu³ and Pei-Lung Chen⁴, ¹Division of Rheumatology, Allergy and Immunology, Far Eastern Memorial Hospital, New Taipei City, Taiwan, R.O.C. Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, Taiwan, R.O.C., New Taipei City, Taiwan (Republic of China), ²Division of Rheumatology, Allergy and Immunology, Far Eastern Memorial Hospital, New Taipei City, Taiwan, R.O.C., New Taipei city, Taiwan (Republic of China), ³Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, Taiwan, R.O.C., Taipei city, Taiwan (Republic of China), ⁴Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, Taiwan, R.O.C., Taipei, Taiwan (Republic of China)
Background/Purpose: Multiple Single-Nucleotide Polymorphisms (SNPs), including those in the methotrexate and azathioprine metabolic pathways, are associated with poor response to conventional disease-modifying anti-rheumatic drugs (cDMARDs)…
Abstract Number: 0103 • ACR Convergence 2025
Common and Rare Variant Contributions to Familial Aggregation in Spondyloarthritis
Félicie Costantino¹, roula Said-Nahal², Hendrick Mambu Mambueni³, Anne Boland⁴, Jean-François Deleuze⁴, Matthew Brown⁵, Henri-Jean Garchon³ and Maxime Breban⁶, ¹Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ²Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Boulogne-Billancourt, France, ³Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny le Bretonneux, France, ⁴Centre National de Recherche en Génomique Humaine (CNRGH), Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France, ⁵Department of Medical and Molecular Genetics, King's College London, London, United Kingdom, ⁶CHU Ambroise-Paré, Boulogne-Billancourt, France
Background/Purpose: Spondyloarthritis (SpA) exhibits strong familial aggregation, with close relatives of patients having a significantly higher risk of developing the disease. This pattern might be…

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