Abstracts tagged "genetics"

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: 2021 • ACR Convergence 2025
Can Colchicine Be a Therapeutic Option for Patients with Ankylosing Spondylitis?
Muhammed Bahaddin Ates¹ and serdal Ugurlu², ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Ankylosing Spondylitis (AS) is a subtype of spondyloarthritis (SpA), a group of inflammatory diseases. AS is influenced by a complex interplay of factors arising…
Abstract Number: 0624 • ACR Convergence 2025
Polygenic risk of lupus is differentially associated with individual EHR-derived classification criteria
Noah Forrest¹, Sachleen Tuteja², Jennifer Pacheco³, Vesna Mitrovic³, Rosalind Ramsey-Goldman¹, Theresa Walunas³ and Matthew Dapas¹, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Evanston, ³Northwestern University Feinberg School of Medicine, Chicago
Background/Purpose: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease characterized by diverse clinical presentation, posing significant challenges in diagnosis and management. Reflecting this clinical…
Abstract Number: 0028 • ACR Convergence 2025
Computational and Laboratory Identification of Risk-Driving Alleles on Juvenile Idiopathic Arthritis (JIA)-Associated Haplotypes
Adam He¹, Hannah Ainsworth², Kaiyu Jiang³, Ekaterina Khtovatkova², Yanmin Chen³, Carl Langefeld⁴, Charles G Danko¹ and James N. Jarvis⁵, ¹Cornell University Baker School of Veterinary Medicine, Ithaca, NY, ²Wake Forest University, Winston-Salem, NC, ³University of Washington School of Medicine, Seattle, WA, ⁴Wake Forest University School of Medicine, Winston Salem, NC, ⁵University of Washington Center for Indigenous Health, Seattle, WA
Background/Purpose: Multiple genomic regions are known to confer risk for JIA. However, identifying the SNPs that exert the biological effects that confer risk, and therefore…
Abstract Number: 1862 • ACR Convergence 2025
Comprehensive analysis of the major histocompatibility complex in systemic sclerosis-associated interstitial lung disease identifies novel associated loci and potential progression biomarkers
Carlos de la Rosa Báez¹, Carlos Rangel Peláez¹, Inmaculada Rodríguez Martín¹, Martin Kerick¹, Alfredo guillen-del-castillo², Carmen Pilar Simeon³, Jose Luis Callejas⁴, Alexandre Voskuijl⁵, Alexander Kreuter⁶, Oliver Distler⁷, Susanna Proudman⁸, Mandana Nikpour⁹, Nicolas Hunzelmann¹⁰, Jeska de Vries-Bouwstra¹¹, Ariane Herrick¹², Yannick Allanore¹³, Lorenzo Beretta¹⁴, Maureen Mayes¹⁵, Christopher Denton¹⁶, Shervin Assassi¹⁷, Javier Martin¹ and Marialbert Acosta-Herrera¹, ¹Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain, ²Unit of Autoimmune Diseases, Department of Internal Medicine, Hospital Universitario Vall d’Hebron, Barcelona, Spain, ³Department of Internal Medicine, Hospital Universitario Vall d’Hebron, Barcelona, Spain, ⁴Department of Internal Medicine, Hospital San Cecilio, Granada, Spain, ⁵Amsterdam University Medical Center, Amsterdam, Netherlands, ⁶Department of Dermatology, Venereology, and Allergology, Helios St. Elisabeth Klinik Oberhausen, University Witten-Herdecke, Oberhausen, Germany, ⁷Department of Rheumatology, University Hospital Zurich, University of Zurich, Switzerland, Zurich, Switzerland, ⁸Royal Adelaide Hospital and University of Adelaide, Medindie, South Australia, Australia, ⁹University of Sydney School of Public Health and Department of Rheumatology, Royal Prince Alfred Hospital, Sydney, Victoria, Australia, ¹⁰Department of Dermatology and Venereology, University Hospital Cologne, Cologne, Germany, ¹¹Leiden University Medical Center, Leiden, Netherlands, ¹²The University of Manchester, UK, Aberdeen, United Kingdom, ¹³Department of Rheumatology, Université Paris Cité UFR de Médecine, Paris, France, ¹⁴Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹⁵UT Health Houston Division of Rheumatology, Houston, TX, ¹⁶University College London, UK, London, United Kingdom, ¹⁷Division of Rheumatology, UTHealth Houston, Houston, Texas, USA, Houston, TX
Background/Purpose: The main causes of death in systemic sclerosis (SSc) are pulmonary complications such as SSc-associated interstitial lung disease (SSc-ILD). SSc-ILD is highly heterogeneous and…
Abstract Number: 0593 • ACR Convergence 2025
Genetic Risk Profiles Predict Clinical Heterogeneity in Systemic Lupus Erythematosus
Nina Oparina¹, Sarah Reid¹, Ahmne Sayadi¹, Maija-Leena Eloranta¹, Martina Frodlund², Karoline Lerang³, Andreas Jönsen⁴, Øyvind Molberg³, Solbritt Rantapää-Dahlqvist⁵, Anna Rudin⁶, Chrisopher Sjöwall⁷, Anders Bengtsson⁸, 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, ⁸Department of Clinical Sciences, Lund University, Lund, Sweden
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations. Genetic predisposition contributes significantly to its pathogenesis, and higher genetic load is…
Abstract Number: 0024 • ACR Convergence 2025
Biobank-scale genetic mapping identifies the shared genetic landscape of rheumatic and cardiovascular disease
Daniel Panyard¹, Daniel Li², Pik Fang Kho², Rodrigo Guarischi-Sousa³, Jiayan Zhou², Austin Hilliard⁴, Christie Bartels⁵, Philip Tsao² and Themistocles Assimes², ¹Stanford University, Sunnyvale, CA, ²Stanford University, Palo Alto, CA, ³Palo Alto Veterans Institute for Research, Palo Alto, CA, ⁴VA Palo Alto Health Care, Palo Alto, CA, ⁵University of Wisconsin School of Medicine and Public Health, Madison, WI
Background/Purpose: Patients with rheumatic conditions are at increased risk for cardiovascular (CV) problems, striking on average a decade before peers and conferring substantial morbidity and…
Abstract Number: 1749 • ACR Convergence 2025
External validation of a combined clinical and genetic risk score for the identification of interstitial lung disease in rheumatoid arthritis
Mikael Brink¹, Austin Wheeler², Bryant England² and Solbritt Rantapaa-Dahlqvist³, ¹Umeå Universitet, Umeå, Sweden, ²University of Nebraska Medical Center, Omaha, NE, ³Umeå University, Umea, Sweden
Background/Purpose: RA-associated interstitial lung disease (RA-ILD) causes substantial morbidity and mortality in RA. Despite this, a limited number of clinical and genetic risk factors have…
Abstract Number: 0834 • ACR Convergence 2025
Heterogeneity in the Association of Genetic Risk for Rheumatoid Arthritis and Resultant Rheumatoid Arthritis Phenotypes
Thomas Riley¹, Austin Wheeler², Bryant England², Grant Cannon³, Brian Sauer⁴, Gary Kunkel⁵, Katherine Wysham⁶, Beth Wallace⁷, Paul Monach⁸, Andreas Reimold⁹, Gail Kerr¹⁰, Isaac Smith¹¹, John Richards¹², Iris Lee¹³, Geoffrey Thiele², Rui Xiao¹, Scott Damrauer¹⁴, Michael Levin¹⁴, Michael George¹, Ted Mikuls² and Joshua Baker¹, ¹University of Pennsylvania, Philadelphia, PA, ²University of Nebraska Medical Center, Omaha, NE, ³University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁴Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁵University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁶VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁷Michigan Medicine, VA Ann Arbor Healthcare System, Ann Arbor, MI, ⁸VA Boston Healthcare System, Boston, MA, ⁹Dallas VA Medical Center, Dallas, TX, ¹⁰Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ¹¹Duke University Hospital, Durham, NC, ¹²Veterans Affairs Pittsburgh Healthcare System, Pittsburgh, PA, ¹³Washington University in St Louis, Saint Louis, MO, ¹⁴University of Pennsylvania / Corporal Michael J. Crescenz VAMC, Philadelphia, PA
Background/Purpose: The impact of genetic risk factors on rheumatoid arthritis (RA) phenotype is incompletely understood. Comparing individual genetic variants associated with RA susceptibility to a…
Abstract Number: 0800 • ACR Convergence 2024
Associations of Rheumatoid Arthritis Polygenic Risk with Age at Onset, Serostatus, and Interstitial Lung Disease
Gregory McDermott¹, Pierre-Antoine Juge², Keigo Hayashi³, Xiaosong Wang⁴, Misti Paudel⁵, Sung Hae Chang⁶, Qianru Zhang⁷, Vanessa Kronzer⁸, Kevin Mueller⁹, Alene Saavedra⁹, Katarina Bade⁹, Grace Qian⁴, Emily Kowalski⁹, Kathleen Vanni⁴, Jing Cui⁹ and Jeffrey Sparks¹⁰, ¹Brigham and Women's Hospital, Brookline, MA, ²Departement of Rheumatology, AP-HP, Bichat Hospital, Boston, MA, ³Brigham and Women’s Hospital, Brookline, MA, ⁴Brigham and Women’s Hospital, Boston, MA, ⁵Brigham and Women's Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, ⁶Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, South Korea, ⁷Harard Medical School, Cambridge, ⁸Mayo Clinic, Rochester, MN, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA
Background/Purpose: Recent rheumatoid arthritis (RA) genome-wide association studies (GWAS) identified 196 risk loci. Polygenic risk scores (PRS) use GWAS summary statistics to aggregate genome-wide genetic…

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