genetics Archives - Page 2 of 29 - ACR Meeting Abstracts

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…
Abstract Number: 2270 • ACR Convergence 2025
ACKR1 and Leukopenia in Patients with Rheumatoid Arthritis Treated with Disease Modifying Antirheumatic Drugs
Daniela Chavez de Paz Solis¹, Puran Nepa², Laura Daniel³, Yan Guo⁴, Jonathan Mosley⁵, Michael Stein⁶ and Cecilia Chung⁴, ¹University of Maine, Caribou, ME, ²University of Miami, Research Service, Miami VA Healthcare System, Miami, FL, ³University of Miami, Nashville, TN, ⁴University of Miami, Miami, ⁵UT Southwestern Medical Center, Dallas, ⁶Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Disease-modifying antirheumatic drugs (DMARDs) such as methotrexate, sulfasalazine, and leflunomide arecommonly prescribed for RA treatment but carry the risk of leukopenia. The ACKR1 promoter…
Abstract Number: 1197 • ACR Convergence 2025
Genetic Profiling of Idiopathic Inflammatory Myopathies in Indian Patients Reveals Genotype-Phenotype Correlation
Bandana Jassal¹, Aishwarya Dhall¹, Mohammed Faruq², Danveer Bhadu¹, Uma Kumar¹ and Mehar Chand Sharma¹, ¹All India Institute of Medical Sciences, New Delhi, New Delhi, Delhi, India, ²Institute of Genomics and Integrative Biology, New Delhi, Delhi, India
Background/Purpose: Idiopathic inflammatory myopathies (IIMs) are rare autoimmune muscle disorders with complex genetic underpinnings. Most genetic studies have focused on limited populations. This study explores…
Abstract Number: 0036 • ACR Convergence 2025
Integrated Analysis of Polygenic and Environmental Risk Scores for Late-Onset Systemic Lupus Erythematosus
Mehmet Hocaoglu¹ and Amr Sawalha², ¹University of Pittsburgh Medical Center, Piitsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Polygenic risk scores (PRS) have been constructed to summarize genetic risk but there is limited research on environment-wide analysis of risk factors for systemic…
Abstract Number: 2152 • ACR Convergence 2025
Blau Syndrome: features beyond the classic triad and proposal for clinical criteria
Narendra Bagri¹, Nawazish Shaikh², Manisha jana³, Sushain kalsotra⁴, Krithika Rajkumar², Madhumita Roy Chowdhury², Neerja Gupta², Danveer Bhadu⁵, Vishal Gupta² and Rohan Chawla², ¹All India Institute of Medical Sciences(AIIMS), New Delhi, Delhi, India, ²All India Institute of Medical Sciences, Delhi, Delhi, India, ³ALL INDIA INSTITUTE OF MEDICAL SCIENCES, Delhi, ⁴All India Institute of Medical Sciences, Delhi, India, ⁵All India Institute of Medical Sciences, New Delhi, New Delhi, Delhi, India
Background/Purpose: This study describes the characteristic clinical and radiological findings and outcomes of patients with Blau syndrome from a single tertiary care hospital.Methods: A retrospective…
Abstract Number: 1170 • ACR Convergence 2025
A20 Haploinsufficiency (HA20): TNFAIP3 Mutation Prevalence In A Clinically Compatible Cohort
María Alonso de Francisco¹, Emiliano González Vioque², Pablo Navarro Palomo³, Maria Machattou⁴, Carlota Navarro Joven⁴, Laura Ramos Ortiz de Zarate⁴, Alejandro Martínez⁵, Adriana Martín Bescós⁴, Paula Mazo⁴, María Concepción Sánchez Fernández⁴, Andrea Liso Andrino⁴, Maria Carmen Barbadillo Mateos⁶, JESUS SANZ SANZ⁷, Hildegarda Godoy Tundidor⁴, Jose Campos⁸, Monica Fernandez Castro⁹, Blanca García Magallón⁴, Olga Rusinovich¹⁰, Laura Nuño¹¹, Jose Luis Andreu¹² and Carolina Merino¹³, ¹H. U. Puerta de Hierro Majadahonda, Tres Cantos, Spain, ²Hospital Puerta de Hierro Majadahonda, Madrid, Spain, ³Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda, Spain, ⁴Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain, ⁵Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Afghanistan, ⁶Public, Madrid, Spain, ⁷SERMAS, Madrid, Spain, ⁸Hospital Universitario Principe de Asturias, Madrid, Spain, ⁹PUERTA DE HIERRO HOSPITAL, Madrid, Spain, ¹⁰Puerta de Hierro Majadahonda University Hospital, Boadilla del Monte, Spain, ¹¹Hospital Universitario Puerta de Hierro, Madrid, Spain, ¹²Hospital Universitario Puerta de Hierro, Majadahonda, Spain, ¹³Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain
Background/Purpose: Haploinsufficiency of A20 (HA20) is a disease at the crossroads between autoinflammation and autoimmunity, caused by heterozygous mutations in TNFAIP3, which encodes the A20…
Abstract Number: 0034 • ACR Convergence 2025
Meta-Analysis of GWAS data from 10,003 Sjögren’s Disease Cases Identifies Thirteen Sjögren’s Risk Loci.
Marcin Radziszewski¹, Bhuwan Khatri¹, Philip Stuart², Astrid Rasmussen¹, Kandice Tessneer¹, Cherilyn Pritchett-Frazee¹, Matthew Pattrick², Elena Pontarini³, michele Bombardieri⁴, Maureen Rischmueller⁵, Marika Kvarnström⁶, Torsten Witte⁷, Hendrika Bootsma⁸, Gwenny Verstappen⁹, Frans Kroese⁹, Arjan Vissink¹⁰, Sarah Pringle⁹, Athanasios Tzioufas¹¹, Clio Mavragani¹², Alan Baer¹³, Marta Alarcon-Riquelme¹⁴, Javier Martin¹⁵, Xavier Mariette¹⁶, Gaetane Nocturne¹⁷, Jacques-Olivier Pers¹⁸, Jacques-eric GOTTENBERG¹⁹, Wan-Fai Ng²⁰, Caroline Shiboski²¹, Kimberly Taylor²², Lindsey Criswell²³, Blake M. Warner²⁴, A. Darise Farris¹, Judith James¹, R Hal Scofield¹, Joel Guthridge¹, Daniel Wallace²⁵, Swamy Venuturupalli²⁶, Mike Brennan²⁷, Juliana Imgenberg-Kreuz²⁸, Lars Rönnblom²⁸, Eva Baecklund²⁹, Maija-Leena Eloranta²⁸, Svein Joar Augländ Johnsen³⁰, Roald Omdal³¹, Lara Aqrawi³², Øyvind Palm³³, Johan Brun³⁴, Daniel Hammenfors³⁴, Malin Jonsson³⁴ and Silke Appel³⁴, Sara Bucher³⁵, Helena Forsblad³⁶, Thomas Mandl³⁷, Per Eriksson³⁸, Marie Wahren-Herlenius⁶, Erik Abner³⁹, Tõnu Esko³⁹, Benjamin A. Fisher⁴⁰, Rachel Gordon⁴¹, Gabriela Hernandez-Molina⁴², Adrian Lee⁴³, Johann Gudjonsson⁴⁴, Lam Tsoi⁴⁴, Gunnel Nordmark²⁹ and Christopher Lessard¹,¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Michigan Medical School, Ann Arbor, MI, ³Queen Mary University of London, London, United Kingdom, ⁴Experimental Medicine and Rheumatology, William Harvey Research Institute, Queen Mary University of London, UK, London, United Kingdom, ⁵RheumatologySA, Adelaide, Australia, ⁶Karolinska Institutet, Stockholm, Sweden, ⁷Dept of Rheumatology and Immunology, Hannover, Niedersachsen, Germany, ⁸UMCG, Groningen, Netherlands, ⁹University Medical Center Groningen, Groningen, Netherlands, ¹⁰University of Groningen, Leek, Netherlands, ¹¹LAIKO HOSPITAL, Athens, Greece, ¹²National and Kapodistrian University of Athens, Athens, Greece, ¹³Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁴Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ¹⁵Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain, ¹⁶Université Paris-Saclay, Le Kremlin Bicetre, France, ¹⁷University Paris Saclay, Le Kremlin Bicetre, Ile-de-France, France, ¹⁸CHU de Brest, Brest, France, ¹⁹Hautepierre Hospital, STRASBOURG, Alsace, France, ²⁰Newcastle University, Gateshead, United Kingdom, ²¹University of California San Francisco, San Francisco, CA, ²²UC San Francisco, San Francisco, CA, ²³NIH/NHGRI, Bethesda, MD, ²⁴National Institutes of Health, Bethesda, MD, ²⁵Cedars Sinai Medical Center, Studio City, CA, ²⁶Attune Health, Beverly Hills, CA, ²⁷Atrium Health, Charlotte, NC, ²⁸Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ²⁹Uppsala University, Uppsala, Sweden, ³⁰Stavanger University Hospital, Stavanger, Norway, ³¹Stavanger University Hospital, Stavanger, Nepal, ³²Kristiania University College, Oslo, Norway, ³³Oslo University Hospital, Oslo, Norway, ³⁴University of Bergen, Bergen, Norway, ³⁵Örebro University, Örebro, Sweden, ³⁶University of Gothenburg, Gothenburg, Sweden, ³⁷Lund University, Malmö, Sweden, ³⁸Linköping University, Linköping University, ³⁹University of Tartu, Tartu, Estonia, ⁴⁰ King’s College London, London, UK; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK, ⁴¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁴²Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico, ⁴³University of Sydney, Sydney, Australia, ⁴⁴University of Michigan, Ann Arbor, MI.

Background/Purpose: Sjögren’s disease (SjD) is a systemic autoimmune condition with a complex genetic architecture. To date, 22 genome-wide significant (GWS) SjD risk loci have been…

Abstracts tagged "genetics"

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

ACKR1 and Leukopenia in Patients with Rheumatoid Arthritis Treated with Disease Modifying Antirheumatic Drugs

Genetic Profiling of Idiopathic Inflammatory Myopathies in Indian Patients Reveals Genotype-Phenotype Correlation

Integrated Analysis of Polygenic and Environmental Risk Scores for Late-Onset Systemic Lupus Erythematosus

Blau Syndrome: features beyond the classic triad and proposal for clinical criteria

A20 Haploinsufficiency (HA20): TNFAIP3 Mutation Prevalence In A Clinically Compatible Cohort

Meta-Analysis of GWAS data from 10,003 Sjögren’s Disease Cases Identifies Thirteen Sjögren’s Risk Loci.