Abstracts tagged "genetics"

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…
Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 1171 • ACR Convergence 2025
VEXAS Syndrome Under the Lens: A prospective analysis of temporal disease patterns, biomarker Dynamics, and therapeutic efficacy
Marta López¹, Paula Garcia Escudero², Berta Magallares³, Meritxell Salles Lizarzaburu⁴, Dolly Viviana Fiallo Suárez⁵, Iñigo Rúa-Figueroa⁶, Isla Morante Bolado⁷, Elena Aurrecoechea⁸, Eugenia Enriquez⁹, Carolina Merino¹⁰, Santos Castañeda¹¹, Irene Monjo Henry¹², César Antonio Egües Dubuc¹³, Elena María Oliver García¹⁴, Alicia Garcia¹⁵, Judit Font-Urgelles¹⁶, Cristina Corrales¹⁷, Lourdes Villalobos¹⁸, Alina-Lucica Boteanu¹⁹, Ignacio Vázquez Gómez²⁰, Diego Dios²¹, Clara Garcia Belando²², Beatriz Frade Sosa²³, Delia Reina²⁴, Marta Ibañez²⁵, Irene Carrion²⁶, Maria Rodriguez²⁷, cristiana Sieiro²⁸, Francisco Javier Toyos²⁹, Alberto Mariano³⁰, Clara Moriano³¹, Rafael B. Melero-González³², Paloma Vela Casasempere³³, Jose Alberto Miranda³⁴, Giuliano Boselli³⁵, Jose Angel Hernandez³⁶, Ernesto Trallero³⁷, Elena Riera Alonso³⁸ and Jaime Calvo³⁹, ¹Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ²H.U.Araba, Vitoria, ³Hospital de Sant Pau, Bareclona, ⁴Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ⁵H.U. Doctor Negrín, Gran Canarias, ⁶Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, ⁷Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ⁸H. Sierrallana, Santander, ⁹Clínica Universidad de Navarra, Madrid, Spain, ¹⁰Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹¹Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ¹²Hospital Universitario La Paz, Madrid, Spain, ¹³Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ¹⁴H.C. U. Lozano Blesa, Zaragoza, ¹⁵Rheumatologist, La Laguna, Spain, ¹⁶Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁷HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹⁸Ramon y Cajal Hospital, MADRID, Spain, ¹⁹H.U. Ramón y Cajal, Madrid, Spain, ²⁰H.U. Doctor Peset, Valencia, ²¹H.U de A Coruña, A Coruña, Spain, ²²H.C. U. Virgen de la arrizaca, Murcia, ²³Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²⁴Complex Hospitalari Moisès Broggi, Barcelona, Spain, ²⁵Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁶Hospital del Mar, Barcelona, Spain, ²⁷H. Clínico San Carlos, Madrid, Spain, ²⁸Univrsity of Manchester, Manchester, United Kingdom, ²⁹Virgen Macarena University Hospital,, Sevilla, Spain, ³⁰Virgen del Rocío University Hospital, Sevilla, Spain, ³¹Hospital León, LEON, Castilla y Leon, Spain, ³²COMPLEXO HOSPITALARIO UNIVERSITARIO DE OURENSE, O Carballino, Spain, ³³Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³⁶Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ³⁷H. U. Vall d'Hebron, Barcelona, ³⁸Hospital Universitari Mùtua Terrassa, Terrassa, 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 an adult-onset autoinflammatory disorder caused by somatic mutations in UBA1 gene, characterized by systemic inflammation and haematologic abnormalities. Evidence regarding its…
Abstract Number: 0033 • ACR Convergence 2025
Development and Internal Validation of Two Human Leukocyte Antigen Genetic Risk Scores for Predicting Rheumatoid Arthritis Progression and Anti-Citrullinated Protein Antibody-Positivity
Lauren Vanderlinden¹, Jun Inamo², Jennifer Seifert³, V. Michael Holers⁴, Joel Guthridge⁵, Kevin Deane⁶ and Fan Zhang⁷, ¹University of Colorado Anschutz Medical Campus, Monument, CO, ²University of Colorado School of Medicine, Aurora, CO, ³University of Colorado and Oklahoma Medical Research Foundation, Aurora, CO, ⁴University of Colorado, Denver, CO, ⁵Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ⁷The University of Colorado, Aurora, CO
Background/Purpose: Human leukocyte antigen (HLA) class II genes play a central role in antigen presentation and immune modulation. The shared epitope (SE) region within HLA-DRB1…
Abstract Number: 2037 • ACR Convergence 2025
The Largest International Cohort Study of HA20 Reveals Novel Genetic Architecture and Age-Dependent Phenotypic Evolution
Manuel Carpio Tumba¹, Tingyan He², Jun Wang³, Elizabeth Kairis¹, Kyr Goyette¹, Akuti Kethri¹, Urekha Karri⁴, Atif Towheed¹, Jun Yang⁵, Qing Zhou⁶ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Shenzhen Children's Hospital, Shenzhen, China (People's Republic), ³Zhejiang University School of Medicine, Zhejiang, China (People's Republic), ⁴School of public health, Pittsburgh, PA, ⁵Rheumatology and Immunology Department of Shenzhen Children's Hospital, Shenzhen, ⁵¹⁸¹⁰⁰, China., Shenzhen, China (People's Republic), ⁶Zhejiang University School of Medicine, Hangzhou, China (People's Republic)
Background/Purpose: Haploinsufficiency of A20 (HA20) is a monogenic autoinflammatory disease caused by loss-of-function (LOF) mutations in TNFAIP3. HA20 was initially described as an early-onset form…
Abstract Number: 1124 • ACR Convergence 2025
ABCG2 Variants as Genetic Risk Factors for Hyperuricemia and Gout: Focus on Pediatric and Familial Manifestations
Blanka Stiburkova¹, katerina pavelcova², Jana masinova³, Pavel Jesina⁴, Yu Toyoda⁵ and Tappei Takada⁵, ¹Institute of Rheumatology, Praha ¹⁰, Czech Republic, ²Institute of Rheumatology, Praha ², Czech Republic, ³Institute of Rheumatology, Prague, Czech Republic, ⁴Revmatologický ústav, Praha ², Czech Republic, ⁵The University of Tokyo Hospital, Tokyo, Japan
Background/Purpose: Gout, a condition arising from hyperuricemia, is considered as both a metabolic disorder and an autoinflammatory disease. Genetic factors are estimated to contribute approximately…
Abstract Number: 0030 • ACR Convergence 2025
Immune-related Diagnoses Associated with NOD2 Variants in Human Subjects: A Phenome-wide Association Study
John Davis¹, Elizabeth Atkinson¹, Vanessa Kronzer¹, Cynthia Crowson², Afsaneh Alavi³, John Damianos¹, Loftus Edward¹, Joseph Murray¹, Ann Moyer¹ and Filippo Pinto e Vairo¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Stewartvillle, MN, ³Department of Dermatology, Mayo Clinic, Rochester, MN
Background/Purpose: The nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene is associated with risk for several inflammatory diseases, including Crohn disease, Blau syndrome, and Yao syndrome…
Abstract Number: 0302 • ACR Convergence 2024
TNFAIP3 Loss-of-function and Missense Mutations Demonstrate Clinically Diverse Presentations: A Multi-center Cohort Experience
Elizabeth Kairis¹, Manuel Carpio Tumba¹, Urekha Karri¹, Magdalena Harasimowicz¹, Megan Cooper², Lance Peterson², Priscilla Campbell-Stokes³, Juan Carlos Aldave-Becerra⁴, Ana Beatriz Muñoz-Urribarri⁴ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Washington University School of Medicine, St. Louis, MO, ³Child Health Service, Hutt Hospital, National Pediatric Rheumatologic Service, Te Whatu Ora, New Zealand, ⁴Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
Background/Purpose: A20 is a critical anti-inflammatory protein encoded by the TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene. A20 negatively regulates multiple anti-inflammatory pathways including…

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