Abstracts tagged "genomics"

Abstract Number: 1696 • ACR Convergence 2025
A multi-omics resource of B cell activation reveals genetic mechanisms for autoimmune diseases
Vitor Aguiar¹, Marcella Franco¹, Nada Abdel Aziz¹, Daniela Fernandez-Salinas², Marcos Chinas¹, Mariasilvia Colantuoni², Qian Xiao¹, Nicolaj Hackert¹, Yifei Liao³, Rodrigo Cervantes-Diaz¹, Marc Todd¹, Brian Wauford¹, Alex Wactor¹, Vaishali Prahalad¹, Raquel Laza-Briviesca¹, Roxane Darbousset¹, Qiang Wang¹, Scott Jenks⁴, Kevin Cashman⁴, Esther Zumaquero⁴, Zhu Zhu¹, Junning Case³, Paloma Cejas⁵, Miguel Munoz-Gomez⁵, Hannah Ainsworth⁶, Miranda Marion⁷, Mehdi Benamar¹, Pui Lee⁸, Lauren Henderson⁹, Margaret Chang², Kevin Wei¹⁰, Henry Long⁵, Carl Langefeld¹¹, Benjamin Gewurz³, Ignacio Sanz⁴, Jeffrey Sparks¹², Esra Meidan¹³, Peter Nigrovic² and Maria Gutierrez-Arcelus², ¹Boston Children's Hospital, Boston, ²Boston Children's Hospital, Boston, MA, ³Brigham and Women's Hospital, Boston, ⁴Emory University, Atlanta, ⁵Dana Farber Cancer Institute, Boston, ⁶Wake Forest University, Winston-Salem, NC, ⁷Wake Forest, Winston-Salem, ⁸Boston Children's Hospital, Newton, MA, ⁹Boston Children's Hospital, Watertown, MA, ¹⁰Brigham and Women's Hospital at Harvard Medical School, Boston, MA, ¹¹Wake Forest University School of Medicine, Winston Salem, NC, ¹²Brigham and Women's Hospital, Boston, MA, ¹³Boston Children's Hospital, Somerville, MA
Background/Purpose: Most genetic variants that confer risk of complex autoimmune diseases affect gene regulation in specific cell types. Their target genes and focus cell types…
Abstract Number: 0046 • ACR Convergence 2025
Association of Genetic Variation in XIST and FTX with Susceptibility to Female-Biased Systemic Autoimmune Disease
Thomas Riley¹, Dana DiRenzo¹, Ellen Romich², Michael Levin³, Scott Damrauer³, Michael George¹, Montserrat Anguera¹, Joshua Baker¹ and Nikhil Jiwrajka¹, ¹University of Pennsylvania, Philadelphia, PA, ²University of Pennsylvania, Media, PA, ³University of Pennsylvania / Corporal Michael J. Crescenz VAMC, Philadelphia, PA
Background/Purpose: The mechanisms underlying female sex bias in autoimmune diseases remain unclear. Recent work has suggested that impaired maintenance of X-chromosome inactivation (XCI) in female…
Abstract Number: 2602 • ACR Convergence 2025
Cellular and molecular fine mapping in single-cell data pinpoints new immunopathology of systemic lupus erythematosus
Masahiro Nakano¹, Michihiro Kono¹, Kenichiro Asahara¹, Takayuki Katsuyama², Eri Katsuyama³, Takahiro Arakawa¹, Tsugumi Kawashima¹, Hajime Inokuchi¹, Takahiro Nishino¹, Haruka Takahashi¹, Bunki Natsumoto¹, Hiroaki Hatano¹, Yoshinori Matsumoto² and Kazuyoshi Ishigaki¹, ¹Laboratory for Human Immunogenetics, Riken Center for Integrative Medical Sciences, Yokohama, Japan, ²Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, ³Faculty of Health Science, Okayama University Medical School, Graduate School of Health Sciences, Boston, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. While we previously identified key gene signatures of SLE using bulk RNA-seq…
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: 0479 • ACR Convergence 2024
Constructing and Using a Novel Nucleotide Transformer for Patients with Rheumatoid Arthritis
Shant Ayanian, Collin Osborne, Marc Blasi, Daniel Darveaux, Eric Klee and Elena Myasoedova, Mayo Clinic, Rochester, MN
Background/Purpose: Applying the methods of artificial intelligence (AI) to genomic data for clinical outcome prediction in rheumatoid arthritis (RA) is an area of growing research.…
Abstract Number: 0913 • ACR Convergence 2024
The Association Between PTPN2 and Leukopenia in New Users of Azathioprine
Puran Nepal¹, Laura L. Daniel², Jacy Zanussi², Alyson L. Dickson³, Wei-Qi Wei³, Adriana M. Hung⁴, Nancy J. Cox³, Vivian K. Kawai³, Jonathan D. Mosley³, C. Michael Stein³, QiPing Feng³, Ge Liu³, Ran Tao³ and Cecilia P. Chung², ¹Vanderbilt University Medical Center, Vanderbilt, TN, ²University of Miami, Miami, FL, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Leukopenia is a common dose-dependent side effect of azathioprine and often results in discontinuation of the drug. Variants in TPMT and NUDT15 have been…
Abstract Number: 1829 • ACR Convergence 2024
Genomic Analysis of Skin Biopsies Differentiates Major Anti-Nuclear Autoantibody Subsets in Limited Cutaneous Systemic Sclerosis
Philip Yee¹, Medha Kanitkar², Kristina Clark³, Voon Ong¹ and Christopher Denton⁴, ¹University College London, London, England, United Kingdom, ²University College London, London, United Kingdom, ³University of Oxford, Oxford, United Kingdom, ⁴University College London, Northwood, United Kingdom
Background/Purpose: Systemic sclerosis (SSc) displays significant heterogeneity. Those with limited cutaneous systemic sclerosis (lcSSc) experience significant systemic organ involvement similar to those with diffuse cutaneous…
Abstract Number: 0521 • ACR Convergence 2024
Transcriptome Analysis of Drug Response in a Large Cohort of Immune-Mediated Inflammatory Disease Patients Supports Advanced Combination Therapy in Rheumatoid Arthritis
Ernest Choy¹, Maria López Lasanta², Paloma Vela-Casasempere³, Antonio Fernandez Nebro⁴, Santos Castañeda⁵, Carlos Marras⁶, Jaime Calvo-Alén⁷, Jesus Tornero⁸, Juan Cañete⁹, Eugeni Domènech¹⁰, Javier Gisbert¹¹, José Manuel Carrascosa¹², Eduardo Fonseca¹³, Luis Bujanda¹⁴, Valle García¹⁵, Britta Siegmund¹⁶, Giampiero Girolomoni¹⁷, Holger Heyn¹⁸, Pere Santamaria¹⁹, Richard M Myers²⁰, yolanda Guillen²¹, Sergio H Martínez-Mateu²², Sara Marsal²³ and Antonio Julia²⁴, and IMID Consortium, ¹Cardiff University School of Medicine, Cardiff, United Kingdom, ²Hospital Universitari Vall d´Hebron, Rheumatology, Barcelona, Spain, ³Hospital General Universitario Alicante, Alicante, Spain, ⁴Hospital Regional Universitario Carlos Haya , Rheumatology, Málaga, Spain, ⁵Hospital Universitario de la Princesa, Madrid, Spain, ⁶Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Murcia, Spain, ⁷Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain, ⁸Hospital Universitario de Guadalajara, Guadalajara, Spain, ⁹Hospital Clinic an IDIBAPS, Barcelona, Spain, ¹⁰Hospital Universitari Germans Trias i Pujol, Barcelona, Spain, ¹¹Hospital Universitario de la Princesa and IIS-IP, Madrid, Spain, ¹²Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹³Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain, ¹⁴Hospital Universitario de Donostia, San Sebastián, Spain, ¹⁵Hospital Universitario Reina Sofía, Córdoba, Spain, ¹⁶Charité – Universitätsmedizin Berlin, Berlin, Germany, ¹⁷University of Verona, Verona, Italy, ¹⁸Centre for Genomic Regulation (CNAG-CRG), National Centre for Genomic Analysis, Barcelona, Spain, ¹⁹Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ²⁰HudsonAlpha Institute for Biotechnology, Huntsville, AL, ²¹Imidomics, Inc, Barcelona, Spain, ²²IMIDOMICs, Barcelona, Spain, ²³Vall Hebron Hospital Research Institute, Barcelona, Spain, ²⁴Vall d'Hebron Hospital Research Institute, Barcelona, Spain
Background/Purpose: Targeted therapies have failed to provide sustained disease remission in most patients suffering from immune-mediated inflammatory diseases (IMIDs). Combining existing drugs could overcome this…

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