Abstracts tagged "genetics"

Abstract Number: LB21 • ACR Convergence 2025
IDH1/2 Somatic Hotspot Mutations as Independent Drivers of Autoinflammation
Flore Castellan¹, Griffen Mustion², Mei-Kay Wong¹, Kimberly Johansson², Scott Goldberg¹, Yazan Madanat³, Namrata Chandhok⁴, Abhay Singh⁵, David Sallman⁶, Jane Churpek⁷, Curtis Lachowiez⁸, Jennifer Yannucci⁹, Luke Fletcher¹⁰, Matthew Schwede¹¹, Amber Afzal², Yael Kusne¹², Alejandro Marinos¹³, Alexander Coltoff¹⁴, Rickey Myhand¹⁵, Kiran Vij², Rosalyn Marar¹⁶, Hannah Mitchell², Maria Stoentcheva², Giulia Petrone², Kyra Ddungu², Hannah Hartman², Ryan Monahan², Karen Vandervort², Jie Liu², John Cole², Tibor Kovacsovics¹⁷, Hetty Carraway¹⁸, Tian Zhang¹⁹, Stephen Chung³, Geoffrey Uy², Eytan Stein²⁰, Devendra Hiwase²¹, Matthew Walter², Mrinal Patnaik¹⁶, Kelly Bolton²² and David Beck¹, ¹New York University School of Medicine, New York, New York, ²Washington University School of Medicine, Saint Louis, Missouri, ³UT Southwestern Medical Center, Dallas, Texas, ⁴University Miami Miller School of Medicine, Miami, Florida, ⁵Cleveland Clinic, Cleveland, Ohio, ⁶Moffitt Cancer Center, Tampa, Florida, ⁷University of Wisconsin School of Medicine, Madison, Wisconsin, ⁸Oregon Health & Science University, Portland, Oregon, ⁹Low Country Cancer Care, Savannah, Georgia, ¹⁰Willamette Valley Cancer Institute and Research Center, EUgene, Oregon, ¹¹Swedish Health Services, Seattle, Washington, ¹²Mayo Clinic, Phoenix, Arizona, ¹³UTSouthwestern Medical Center, Dallas, Texas, ¹⁴Medical University of South Carolina, Charleston, South Carolina, ¹⁵CovenantOntology & Hematology, Frankfort, Kentucky, ¹⁶Mayo Clinic, Rochester, Minnesota, ¹⁷City of Hope, Goodyear, Arizona, ¹⁸Case Western Reserve University, Cleveland, Ohio, ¹⁹Stanford Medicine, Stanford, California, ²⁰Memorial Sloan Kettering Cancer Center, New York, New York, ²¹Adelaide Medical School, Adelaide, South Australia, Australia, ²²Washington University School of Medicine, Saint Louis, Minnesota
Background/Purpose: Recently, somatic mutations in hematopoietic stem and progenitor cells (HSPCs) have been proposed as a novel mechanism driving systemic inflammation. UBA1 somatic variants in…
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: 1701 • ACR Convergence 2025
Gene Editing of HLA-Class II DRB1*04:01 at Position 82 Abrogates Binding of Citrullinated Arthritogenic Peptides and Collagen
Vibha Jha¹, Brian Freed², Niyun Jin¹, Manjula Miglani¹ and Christina Roark², ¹University of Colorado, Aurora, CO, ²Clinimmune Labs Immunology, School of Medicine, Aurora, CO
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease with a strong genetic association to Class II HLA-DRB1*04:01. Presentation of arthritogenic peptides bound to DRB1*04:01…
Abstract Number: 0269 • ACR Convergence 2025
Clinical Landscape and Severity Markers of VEXAS Syndrome in a Spanish Cohort: Findings from VEXASSER Study Group
Paula García-Escudero¹, Marta López², Berta Magallares³, Dolly Viviana Fiallo Suárez⁴, Diego Dios Santos⁵, César Antonio Egües Dubuc⁶, Santos Castañeda⁷, Alicia Garcia⁸, Isla Morante Bolado⁹, Elena María Oliver García¹⁰, Clara Garcia Belando¹¹, Cristina Corrales¹², Francisco Javier Toyos¹³, Judit Font-Urgelles¹⁴, Meritxell Salles Lizarzaburu¹⁵, Carolina Merino¹⁶, Irene Carrion¹⁷, Jose Angel Hernandez¹⁸, Lourdes Villalobos¹⁹, Alina-Lucica Boteanu²⁰, Beatriz Frade Sosa²¹, cristiana Sieiro²², Irene Monjo Henry²³, Ernesto Trallero²⁴, Eugenia Enriquez²⁵, Maria Rodriguez²⁶, Elena Riera Alonso²⁷, Marta Ibañez²⁸, Delia Reina²⁹, Rafael Benito Melero González³⁰, Giuliano Boselli³¹, Alberto Mariano³², Ignacio Vázquez Gómez³³, Jose Alberto Miranda³⁴, Clara Moriano³⁵, Elena Aurrecoechea³⁶, Paloma Vela Casasempere³⁷, Iñigo Rúa-Figueroa³⁸ and Jaime Calvo³⁹, ¹Hospital Universitario Álava, Bilbao, Spain, ²Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ³Hospital de Sant Pau, Bareclona, ⁴H.U. Doctor Negrín, Gran Canarias, ⁵C. H. U. A Coruña, A Coruña, Spain, ⁶Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ⁷Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁸Rheumatologist, La Laguna, Spain, ⁹Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ¹⁰H.C. U. Lozano Blesa, Zaragoza, ¹¹H.C. U. Virgen de la arrizaca, Murcia, ¹²HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹³Virgen Macarena University Hospital,, Sevilla, Spain, ¹⁴Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁵Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ¹⁶Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ¹⁹Ramon y Cajal Hospital, MADRID, Spain, ²⁰H.U. Ramón y Cajal, Madrid, Spain, ²¹Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²²Univrsity of Manchester, Manchester, United Kingdom, ²³Hospital Universitario La Paz, Madrid, Spain, ²⁴H. U. Vall d'Hebron, Barcelona, ²⁵Clínica Universidad de Navarra, Madrid, Spain, ²⁶H. Clínico San Carlos, Madrid, Spain, ²⁷Hospital Universitari Mùtua Terrassa, Terrassa, Spain, ²⁸Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁹Complex Hospitalari Moisès Broggi, Barcelona, Spain, ³⁰C. H. U. de Ourense, Ourense, ³¹Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³²Virgen del Rocío University Hospital, Sevilla, Spain, ³³H.U. Doctor Peset, Valencia, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Hospital León, LEON, Castilla y Leon, Spain, ³⁶H. Sierrallana, Santander, ³⁷Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁸Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, 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 a rare disease caused by somatic mutations in UBA1 gene. Different mutations in this gene appear to be associated with specific…
Abstract Number: 1699 • ACR Convergence 2025
Protein-coding Somatic Genetic Variation in Lymphocytes in Systemic Lupus Erythematosus
Siva Kasinathan¹, Minh Pham² and Ansuman Satpathy², ¹Stanford University School of Medicine, Palo Alto, CA, ²Stanford University School of Medicine, Stanford, CA
Background/Purpose: The genetic and environmental factors underlying pathogenesis of systemic lupus erythematosus (SLE) are incompletely resolved. While inherited genetic variation has been extensively queried in…

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