genetics Archives - Page 2 of 29 - ACR Meeting Abstracts

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…
Abstract Number: 2647 • ACR Convergence 2025
Unlinked Paths to SLE: Divergent Associations of DNA Methylation and Polygenic Risk Scores with SLE Features
Holme Vestin¹, Nina Oparina¹, Elisabeth Skoglund¹, Maija-Leena Eloranta¹, Martina Frodlund², Iva Gunnarsson³, Chrisopher Sjöwall², Elisabet Svenungsson⁴, Lars Rönnblom¹, Juliana Imgenberg-Kreuz¹ and Dag Leonard¹, ¹Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden, ³Division of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, ⁴Karolinska Institutet, Stockholm, Stockholms Lan, Sweden
Background/Purpose: The aetiopathogenesis of SLE encompasses genetic and epigenetic factors, including hypomethylation of type I interferon (IFN) regulated genes (1) and the HLA-DRB1*03:01 haplotype, linked…
Abstract Number: 1301 • ACR Convergence 2025
Prevalence, Clinical and Genetic Risk Factors, and Time to Cataract Development in Childhood-onset Systemic Lupus Erythematosus
Sirikarn Tangcheewinsirikul¹, Zhaoyu Ding², Nicholas Chan³, Daniela Dominguez³, Andrea Knight⁴, Deborah Levy¹, Lawrence Ng⁵, Earl Silverman¹, Ruud Verstegen¹ and Linda Hiraki¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²SickKids Research Institute, Toronto, ON, Canada, ³The Hospital for Sick Children, Toronto, Canada, ⁴Hospital for Sick Children, Toronto, ON, Canada, ⁵The Hospital for Sick Children, Toronto, Canada, Toronto, ON, Canada
Background/Purpose: Cataracts are a significant ocular complication in childhood-onset systemic lupus erythematosus (cSLE). This study aimed to assess the prevalence, time to cataract development, and…
Abstract Number: 0073 • ACR Convergence 2025
HLA-DQA1*01:02 Is Associated With IgG Multi-Reactivity With Citrulline-Containing Type II Collagen Epitopes While HLA-DRB*04:01 Is Associated With More Private Reactivity With Citrulline-Containing IgG Epitopes In Rheumatoid Arthritis
S. Janna Bashar¹, Courtney Myhr¹, Adam Titi¹, Zihao Zheng¹ and Miriam Shelef², ¹University of Wisconsin-Madison, Madison, ²University of Wisconsin-Madison, Madison, WI
Background/Purpose: Anti-citrullinated protein antibodies (ACPAs) in rheumatoid arthritis (RA) can be promiscuous, with cross-reactive binding to many antigens containing short motifs, or more private with…
Abstract Number: 2432 • ACR Convergence 2025
Duffy Null Genotype and Autoantibodies Synergistically Contribute to Severe Leukopenia in Systemic Lupus Erythematosus
valerie Lewis¹, Faith Porter², Victoria Nwankwo³, John Ice⁴, Joshua Cavett⁵ and R Hal Scofield¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Langston University, Langton, OK, ³Emory University, Atlanta, GA, ⁴OKC VA Healthcare System, Oklahoma City, OK, ⁵Oklahoma Medicar Research Foundtion, Oklahoma City
Background/Purpose: Systemic lupus erythematosus (SLE) is a common, complex inflammatory autoimmune disease in which dysregulation of both innate and adaptive immune responses has been implicated…

Abstracts tagged "genetics"

Behçet’s Disease in a Diverse Urban Single-Center Cohort in the United States: HLA-B Alleles and Clinical Features

Genetic architecture and translational insights for SLE progression from preclinical stages

Monogenic autoinflammatory diseases and undefined autoinflammatory syndrome in Western Mediterranean adults: clinical, genetic, and therapeutic insights

High prevalence of clonal hematopoiesis of indeterminate potential (CHIP) somatic mutations in a cohort of 1,073 SLE participants

Genetic and Environmental Risk Factors and Incident Rheumatoid Arthritis

Early-Life Nutrition and Gene-Environment Interactions Influencing Juvenile Idiopathic Arthritis Risk: Results from a Pregnancy Cohort

Genetic and Cytokine Correlates in Ankylosing Spondylitis: rs27038 polymorphism of ERAP1 gene and IL-17 Interactions : A Case-Control Study

Dissecting the Genetic and Functional Association of CARD9 with Axial Spondyloarthritis

Rare TNFAIP3 Hypomorphic Variants are a Massively Underestimated Driver of Human Autoinflammatory Disease

Preliminary Result of Investigating the Response of Conventional Disease-Modifying Antirheumatic Drugs (cDMARDs) Associated SNPs: One Cohort Study

Common and Rare Variant Contributions to Familial Aggregation in Spondyloarthritis

Unlinked Paths to SLE: Divergent Associations of DNA Methylation and Polygenic Risk Scores with SLE Features

Prevalence, Clinical and Genetic Risk Factors, and Time to Cataract Development in Childhood-onset Systemic Lupus Erythematosus

HLA-DQA101:02 Is Associated With IgG Multi-Reactivity With Citrulline-Containing Type II Collagen Epitopes While HLA-DRB04:01 Is Associated With More Private Reactivity With Citrulline-Containing IgG Epitopes In Rheumatoid Arthritis

Duffy Null Genotype and Autoantibodies Synergistically Contribute to Severe Leukopenia in Systemic Lupus Erythematosus