genetics Archives - ACR Meeting Abstracts

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…
Abstract Number: 1292 • ACR Convergence 2025
Childhood-onset Behçet’s disease: HLA alleles role on diagnosis and treatment in a Latin American tertiary center
Matheus França¹, Thales Souza², Ricardo Machado³, Vinicius Matias⁴, Sylvia Farhat³, Lia Steuer³, Luisa Forero³, Verena Balbi³, Nadia Emi Aikawa⁵, Katia Kozu³, Clovis Artur Silva⁶, Adriana Elias⁷ and Lucia Maria Campos⁸, ¹Instituto da Criança e do Adolescente, Hospital das Clinicas, University of Sao Paulo Medical School, Sao Paulo, Sao Paulo, Brazil, ²Faculdade de Medicina da Universidade de Brasilia, Brasilia, Distrito Federal, Brazil, ³Instituto da Criança e do Adolescente, Hospital das Clinicas, Sao Paulo, Sao Paulo, Brazil, ⁴Faculdade de Ciências Medicas da Santa Casa de Sao Paulo, Sao Paulo, Sao Paulo, Brazil, ⁵Rheumatology Division and Pediatric Rheumatology Unit, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil, Sao Paulo, São Paulo, Brazil, ⁶University of São Paulo, São Paulo, São Paulo, Brazil, ⁷Pediatric Rheumatology Unit, Instituto da Criança e do Adolescente, Hospital das Clinicas, University of Sao Paulo Medical School, São Paulo, São Paulo, Brazil, ⁸Instituto da Criança e do Adolescente, São Paulo, São Paulo, Brazil
Background/Purpose: Behçet’s disease (BD) is a rare pediatric vasculitis with limited epidemiological data in Latin America centers, especially in children where initial symptoms can be…
Abstract Number: 0047 • ACR Convergence 2025
Monocyte Transcriptomic Signatures Uncover Potential Pathogenic Mechanisms of the APOL1 High Risk Genotype (HRG)
Vishnuprabu Pandian¹, Adebola Agboola¹, Sivasubramanian ramani², Christele Felix³, Andrra Nimoni³, Jasmin Divers⁴, Timothy Niewold⁵ and Ashira Blazer², ¹University of Maryland, Baltimore, Baltimore, Maryland, ²University of Maryland Baltimore, Baltimore, Maryland, ³Hospital for Special Surgery, New York, NY, ⁴NYU Grossman Long Island School of Medicine, New York, New York, ⁵Hospital for Special Surgery, New York, New York
Background/Purpose: Compared to the low-risk genotype (LRG) the APOL1 high-risk genotype (HRG) confers an increased risk of end stage kidney disease among individuals with systemic…
Abstract Number: 2390 • ACR Convergence 2025
SLE Genetic Risk Loci in the Context of Environmental Exposure: A Gene-Based Classification and Clinical Insight
Nina Oparina¹, Holme Vestin¹, Sarah Reid¹, Ahmne Sayadi¹, Maija-Leena Eloranta¹, Martina Frodlund², Karoline Lerang³, Andreas Jönsen⁴, Øyvind Molberg³, Solbritt Rantapää-Dahlqvist⁵, Anna Rudin⁶, Chrisopher Sjöwall⁷, Anders Bengtsson⁴, Lars Rönnblom¹ 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, Linkoping, Sweden, ³Department of Rheumatology, Oslo University Hospital, Oslo, Norway, ⁴Department of Clinical Sciences, Lund University, Lund, Sweden, ⁵Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden, ⁶Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy of University of Gothenburg, Gothenburg, Sweden, ⁷Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden
Background/Purpose: Growing evidence supports the role of chemical exposures as contributors to the development of Systemic lupus erythematosus (SLE)1. Several of the gene variants associated…
Abstract Number: 1221 • ACR Convergence 2025
Oxytocin pathway gene BST1 polymorphism rs4273468 genotype GG is negatively associated with Fibromyalgia
Zeeshan Ahmed¹, Koshy Nithin Thomas², Shivika Guleria³, Amita Aggarwal⁴ and Able Lawrence³, ¹Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, ²Christian Medical College, Vellore, Tamil Nadu, India, ³SGPGIMS, Lucknow, Lucknow, Uttar Pradesh, India, ⁴Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, Lucknow, Uttar Pradesh, India
Background/Purpose: Oxytocin, also known as love hormone, is important in contextual memory. Oxytocin secreting parvocellular neurons suppress pain through projections to brain and spinal cord…
Abstract Number: 0039 • ACR Convergence 2025
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome
randy Cron¹, Abhishek Kamath¹, Mingce Zhang¹, Devin Abhser², Lesley Jackson¹ and Walter Winn Chatham³, ¹University of Alabama at Birmingham, Birmingham, AL, ²Kaiser Permanente Research Bank, Oakland, CA, ³University of Nevada, Las Vegas, Las Vegas, NV
Background/Purpose: Severe COVID-19 infection resulting in hospitalization shares features with frequently fatal cytokine storm syndromes (CSS), such as hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome…

Abstracts tagged "genetics"

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

Childhood-onset Behçet’s disease: HLA alleles role on diagnosis and treatment in a Latin American tertiary center

Monocyte Transcriptomic Signatures Uncover Potential Pathogenic Mechanisms of the APOL1 High Risk Genotype (HRG)

SLE Genetic Risk Loci in the Context of Environmental Exposure: A Gene-Based Classification and Clinical Insight

Oxytocin pathway gene BST1 polymorphism rs4273468 genotype GG is negatively associated with Fibromyalgia

Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome