Abstracts tagged "genomics"

Abstract Number: 1653 • ACR Convergence 2025
Gut-joint lymphocyte trafficking functions to regulate systemic immunity
Sarah Danielson¹, Sucai Liu² and Kristine Kuhn³, ¹University of Colorado Anschutz Medical Campus, Aurora, ²University of Colorado School of Medicine, Aurora, CO, ³²⁰²² - ²⁰²³ / Adult/ University of Colorado, Aurora, CO
Background/Purpose: The gut-joint and mucosal origins hypotheses postulate that immune alterations in mucosal sites may precede and impact the development of rheumatoid arthritis and spondyloarthritis.…
Abstract Number: 0045 • ACR Convergence 2025
Genetic regulators of corticosteroid response in hepatic and adipose tissue and risk of adverse metabolic outcomes in patients with rheumatoid arthritis initiating glucocorticoids.
Thomas Riley¹, Bryant England², Austin Wheeler², Punyasha Roul³, Grant Cannon⁴, Brian Sauer⁵, Gary Kunkel⁶, Katherine Wysham⁷, Beth Wallace⁸, Andreas Reimold⁹, Gail Kerr¹⁰, Isaac Smith¹¹, John Richards¹², Iris Lee¹³, Mitchell Lazar¹, Wenxiang Hu¹⁴, Michael Levin¹⁵, Scott Damrauer¹⁵, Rui Xiao¹⁶, Tate Johnson², Ted Mikuls², Joshua Baker¹ and Michael George¹, ¹University of Pennsylvania, Philadelphia, PA, ²University of Nebraska Medical Center, Omaha, NE, ³UNMC, Omaha, NE, ⁴University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁵Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁶University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁷VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁸Michigan Medicine, VA Ann Arbor Healthcare System, Ann Arbor, MI, 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, ¹⁴Guangzhou National Laboratory, Guangzhou, China (People's Republic), ¹⁵University of Pennsylvania / Corporal Michael J. Crescenz VAMC, Philadelphia, PA, ¹⁶Children's Hospital of Philadelphia, Philadelphia, PA
Background/Purpose: Previous studies identified single nucleotide polymorphisms (SNPs) that affect hepatocyte and adipocyte response to glucocorticoids (GCs). We aimed to determine if these candidate SNPs…
Abstract Number: 2572 • ACR Convergence 2025
Multi-Modal Machine Learning Prediction and Phenotyping of Systemic Lupus Erythematosus Using Longitudinal EHR and Genomic Data from the All of Us Program
Hunter Sporn¹, Roshni Parulekar-Martins¹, Haopeng Wang¹, Xinran Yu¹, Jeong Yee², Youngmin Kim³, Jing Cui⁴ and Karen H. Costenbader⁵, ¹Massachusetts Institute of Technology, Boston, ²Sungkyunkwan University, Suwon, MA, South Korea, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham and Women's Hospital/ Harvard Medical School, Boston, ⁵Harvard Medical School and Brigham and Women's Hospital, Boston, MA
Background/Purpose: Timely diagnosis and clinically meaningful stratification of systemic lupus erythematosus (SLE) remain major unmet needs. Existing risk models rely on limited genetic or lifestyle…
Abstract Number: 1571 • ACR Convergence 2025
Spatial Transcriptomics of Perivascular Subepidermal Regions in Very Early Systemic Sclerosis Unveils Cellular and Mitochondrial Stress-Driven Innate Immune Signatures that Initiate Stromal Remodeling
Ifeoluwa Emmanuel Bamigbola¹, Jayakumar Vadakekolathu¹, Stefano Di Donato², Vishal Kakkar³, Rebecca Ross⁴, Yasser El-Sherbiny¹ and Francesco Del Galdo³, ¹¹Nottingham Trent University, Department of Biosciences, School of Science and Technology, Nottingham, United Kingdom, ²University of Leeds, Canosa Sannita, Chieti, Italy, ³University of Leeds, Leeds, United Kingdom, ⁴Medicine and Health, University of Leeds, Leeds, United Kingdom
Background/Purpose: The skin from patients with Very Early Diagnosis of Systemic Sclerosis (VEDOSS) already exhibits fibrotic alterations such as collagen deposition and perivascular infiltration (1),…
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: 2533 • ACR Convergence 2025
Patterns of skin lesion transcriptomics in different forms of vasculitis
Karyssa Stonick¹, Luciana Yamamoto de Almeida², Seolkyoung Jung³, Faiza Naz⁴, Alice Fike⁴, Kaitlin Quinn⁴, Shubhasree Banerjee⁵, Christopher Hansen⁶, David Cuthbertson⁷, Anthony Fernandez⁸, Nader Khalidi⁹, Tanaz Kermani¹⁰, Carol Langford¹¹, Carol McAlear⁵, Christian Pagnoux¹², Rennie Rhee⁵, Peter Merkel⁵, Robert Micheletti¹³ and Peter Grayson¹⁴, ¹National Insitute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²National Institutes of Health, Bethesda, MD, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵University of Pennsylvania, Philadelphia, PA, ⁶University of Utah, Salt Lake City, UT, ⁷University of South Florida, Tampa, ⁸Cleveland Clinic Foundation, Westlake, OH, ⁹McMaster University, Hamilton, ON, Canada, ¹⁰University of California Los Angeles, Santa Monica, CA, ¹¹Cleveland Clinic, Moreland Hills, OH, ¹²Mount Sinai Hospital, Toronto, ON, Canada, ¹³Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, ¹⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: The systemic vasculitides are a family of rare diseases defined by immune-mediated inflammation and destruction of vasculature. Causal etiologies of most forms of vasculitis…
Abstract Number: 1309 • ACR Convergence 2025
Transcriptomic biomarkers of progression from undifferentiated arthritis to rheumatoid arthritis
Christina Printzis¹, Keerthana Nagesh Prabhu², Regina Sakalyte³, Sigita Stropuviene³ and Damini Jawaheer¹, ¹Northwestern University, Chicago, IL, ²Washington University in St. Louis, St Louis, MO, ³Vilnius University, Faculty of Medicine, Institute of Clinical Medicine, Clinic of Rheumatology, Orthopedics Traumatology and Reconstructive Surgery, Vilnius, Lithuania
Background/Purpose: A broad range (6-55%) of patients classified as having undifferentiated arthritis (UA) tend to progress to rheumatoid arthritis (RA), suggesting that UA in these…
Abstract Number: 0032 • ACR Convergence 2025
Protein Language Model-Guided Homology Identifies Microbial Enzymes Linked to Fibrosis-Prone IgG4-RD and Crohn’s Disease
Kumar Thurimella¹, Ahmed Mohamed², Chenhao Li³, Tommi Vatanen⁴, Daniel Graham³, Roisin Owens⁵, Sabina Leanti La Rosa⁶, Damian Plichta³, Sergio Bacallado⁵ and Ramnik Xavier⁷, ¹University of Colorado School of Medicine, Aurora, CO, ²Broad Institute, Boston, ³Broad Institute, Cambridge, MA, ⁴University of Helsinki, Helsinki, Finland, ⁵University of Cambridge, Cambridge, United Kingdom, ⁶NMBU, As, Norway, ⁷Harvard Medical School, Boston, MA
Background/Purpose: Uncharacterized microbial enzymes in metagenomics are difficult to annotate, especially in fibrosis-prone conditions like IgG4-related disease (IgG4-RD) and Crohn’s disease (CD), where microbial carbohydrate…
Abstract Number: 2410 • ACR Convergence 2025
Immune Cell/Pathway-Specific Polygenic Risk Scores Reveal Immune Pathway Associations in Childhood-Onset Lupus Nephritis
Liyoung Kim¹, Daniela Fernandez-Salinas², Gonzalo Villanueva Martin³, Vitor Aguiar³, Laura Lewandowski⁴, Tiphanie Vogel⁵, Carola Vinuesa⁶, Linda Hiraki⁷, Tracey Wright⁸, Virginia Pascual⁹, Joyce Chang², Maria Gutierrez-Arcelus² and Peter Nigrovic¹, ¹Boston Children's Hospital, Brookline, MA, ²Boston Children's Hospital, Boston, MA, ³Boston Children's Hospital, Boston, ⁴NIAMS, NIH, Bethesda, MD, ⁵Baylor College of Medicine, Houston, TX, ⁶Francis Crick Institute, London, United Kingdom, ⁷The Hospital for Sick Children, Toronto, ON, Canada, ⁸UT Southwestern, Children's Medical Center, and Scottish Rite for Children, Dallas, TX, ⁹Weill Cornell Medical College, New York, NY
Background/Purpose: Polygenic risk scores (PRS) quantify an individual’s genetic susceptibility to diseases by integrating genotype data across multiple loci. However, conventional PRS are limited in…
Abstract Number: 1227 • ACR Convergence 2025
The Composition of Circulating Immune Cells is Associated with Nociplastic Pain in Patients with Rheumatoid Arthritis
Tyler Therron¹, Meghan Mayer², Cecilia Stumpf³, Gelis Galarcé Lugo⁴, Morgan Langereis⁵, Kathleen Aren⁶, Mary Carns⁵, Cally Mills⁵, Cheol Min Lee⁷, Vanessa Manada De Lobos², Carla Marie Cuda⁵, Yvonne Lee⁵ and Deborah Rachelle Winter⁸, ¹Northwestern Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Chicago, ³Northwestern University, Elmhurst, IL, ⁴Northwestern University Feinberg School of Medicine, Zionsville, IN, ⁵Northwestern University, Chicago, IL, ⁶Northwestern University Division of Rheumatology, Chicago, IL, ⁷Northwestern University Feinberg School of Medicine, Chicago, IL, ⁸Northwestern University, Skokie, IL
Background/Purpose: Over half of patients with RA report clinically meaningful pain, despite treatment with disease-modifying antirheumatic drugs (DMARDs). While joint inflammation is a known cause…
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: 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: 1056 • ACR Convergence 2025
High diagnostic rate of genetic testing in adult patients with autoinflammation: A Single Center Experience
Atif Towheed¹, Joshua Owens², Ann Parody¹ and Daniella Schwartz³, ¹University of Pittsburgh Medical Centre, Pittsburgh, ²UPMC Children’s Hospital of Pittsburgh, Pittsburgh, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Inborn errors of immunity (IEI), including autoinflammatory diseases and primary immune regulation disease (PIRD), are unfamiliar to many adult rheumatologists, leading to potential ascertainment…
Abstract Number: 0025 • ACR Convergence 2025
Expansion and Transcriptional Reprogramming of CD14⁺ and CD16⁺ Monocytes in Behçet’s Disease
Elio Carmona¹, Rabia Deniz², Cemal Bes³, Haner Direskeneli⁴, Ahmet Gul⁵ and Amr Sawalha⁶, ¹Division of Pediatric Rheumatology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA, Pittsburgh, ²University of Health Sciences Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ³University of Health Sciences, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Marmara University, ISTANBUL, Turkey, ⁵Istanbul University, Istanbul, Turkey, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Behçet’s disease (BD) is a chronic, relapsing inflammatory disease characterized by complex immunopathogenesis and limited treatment options. Monocytes are known to play a significant…
Abstract Number: 1844 • ACR Convergence 2025
Disease-Associated Macrophages Express an Injury-Associated Gene Program and Localize to Distinct Compartments in Proliferative and Mixed Histologic Classes of Lupus Nephritis
Paul Hoover¹, Rollin Leavitt², Jill Buyon³, Jennifer Anolik⁴, Jennifer Barnas⁵, Judith James⁶, Joel Guthridge⁶, Michelle Petri⁷, Betty Diamond⁸, Soumya Raychaudhuri¹, Nir Hacohen⁹, Anne Davidson¹⁰ and Arnon Arazi¹¹, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, MA, ³NYU Grossman School of Medicine, New York, NY, ⁴University of Rochester Medical Center, Rochester, NY, ⁵University of Rochester, Rochester, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University School of Medicine, Timonium, MD, ⁸The Feinstein Institutes for Medical Research, Manhasset, NY, ⁹Broad Institute, Cambridge, MA, ¹⁰Feinstein Institutes for Medical Research, Manhasset, NY, ¹¹The Feinstein Institutes for Medical Research, Manhasset
Background/Purpose: In collaboration with the AMP-RA/SLE network, we identified disease-associated macrophages (D-Macs) in kidney biopsies from 155 patients with active lupus nephritis (LN) and 30…

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