Abstracts tagged "genomics"

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…
Abstract Number: 0914 • ACR Convergence 2024
RAB19 and Azathioprine-Associated Pancreatic Injury in Patients Taking Azathioprine
Shailja C. Shah¹, Tyler S. Reese², Laura L. Daniel³, Puran Nepal⁴, Jacy Zanussi³, Alyson L. Dickson², Ran Tao², Adriana M. Hung⁵, Wei-Qi Wei², C. Michael Stein², QiPing Feng² and Cecilia P. Chung³, ¹University of California, San Diego, San Diego, CA, ²Vanderbilt University Medical Center, Nashville, TN, ³University of Miami, Miami, FL, ⁴Vanderbilt University Medical Center, Vanderbilt, TN, ⁵Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Pancreatitis is a rare, but potentially life-threatening adverse event associated with the use of azathioprine. Prior studies have found an association between the HLA…
Abstract Number: 1855 • ACR Convergence 2024
Identification of Autoreactive Cytotoxic T Cells in ANCA-Associated Vasculitis
Laura van Dam¹, Shady Younis², Jae-Seung Moon³, Mengrui Zhang⁴, Shima Parfasar⁴, Audra Horomanski³, orr Sharpe³, Jolijn van Leeuwen⁵, Tobias Lanz⁴, Cees van Kooten⁶, Onno Teng⁷ and William Robinson⁸, ¹Stanford, Palo Alto, CA, ²Stanford University, Stanford, CA, ³Department of Immunology and Rheumatology, Stanford University, Stanford, CA, ⁴Department of Immunology and Rheumatology, Stanford University, Stanford, ⁵Department of Nephrology, Leiden University Medical Center, Leiden, Netherlands, ⁶Department of Nephrology, Leiden University Medical Center, Leiden, ⁷Leiden University Medical Center, Leiderdorp, Netherlands, ⁸Division of Immunology and Rheumatology, Stanford University, and VA Palo Alto Health Care System, Stanford, CA
Background/Purpose: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare and severe autoimmune disease, characterized by a pauci-immune necrotizing vasculitis leading to inflammation and damage…
Abstract Number: 0618 • ACR Convergence 2024
Comparison of Cell Type-Specific Polygenic Risk in Systemic Lupus Erythematosus Patient and Healthy Controls
Liyoung Kim¹, Vitor Aguiar², Daniela Fernandez-Salinas³, Jeffrey Sparks⁴, Peter Nigrovic¹, Joyce Chang² and Maria Gutierrez-Arcelus², ¹Boston Children's Hospital, Brookline, MA, ²Boston Children's Hospital, Boston, MA, ³Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, ⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA
Background/Purpose: Polygenic risk scores quantify the composite impact of numerous genetic variants to predict disease risk. However, conventional polygenic risk scores have limitations in revealing…
Abstract Number: 0956 • ACR Convergence 2024
Secreted Frizzled-Related Protein 2 (sFRP2) Regulates Wnt Signaling to Affect Mesenchymal Transition of Lung Epithelial Cells Participates in Interstitial Lung Disease
Yinlan Wu¹, Yanhong Li² and Yi Liu³, ¹West China Hospital of Sichuan University, Chengdu, Sichuan, China, ²West China School of Medicine and West China Hospital, Sichuan University, Cheng Du, Sichuan, China, ³West China Hospital, Sichuan University, Chengdu, China (People's Republic)
Background/Purpose: Investigation of Transcriptional Changes in Interstitial Lung Disease (ILD) and Exploration of Functional Effects of Differential Genes and Expressed Proteins in the Development of…
Abstract Number: 1857 • ACR Convergence 2024
Thymic Mimetic Cells in Humans, Mice and Fish Are Evolutionarily Ancient with Species-specific Adaptations
Brooke Huisman¹, Daniel Michelson¹, Sara Rubin¹, Katherine Kohlsaat², Wilson Gomarga², Yuan Fang¹, Ji Myung Lee², Pedro del Nido², Meena Nathan², Christophe Benoist¹, Leonard Zon² and Diane Mathis¹, ¹Harvard Medical School, Boston, MA, ²Boston Children's Hospital, Boston, MA
Background/Purpose: Thymic mimetic cells are molecular hybrids between medullary thymic epithelial cells (mTECs) and diverse peripheral cell types. They are involved in eliminating autoreactive T…
Abstract Number: 0628 • ACR Convergence 2024
Genetic Determinants of Childhood Onset Systemic Lupus Erythematosus
Meghan Nelson¹, Shanta Murthy², Sushma Maddipatla², Sreekala Shenoy², Lori Ponder³, Subra Kugathasan⁴, Dave Cutler⁵ and Sampath Prahalad⁶, ¹Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America; Children’s Healthcare of Atlanta, Atlanta, United States of America; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland; Department of Human Genetics; Emory University School of Medicine, Atlanta, Georgia, United States of America, Bethesda, MD, ²Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America, Atlanta, GA, ³Children's Healthcare of Atlanta, Atlanta, GA, ⁴Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America; Children’s Healthcare of Atlanta, Atlanta, United States of America, Atlanta, GA, ⁵Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America, Atlanta, GA, ⁶Emory + Children's Pediatric Institute, Atlanta, GA
Background/Purpose: Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease with significant morbidity and mortality. Genome-wide association studies have identified more than 100 variants…
Abstract Number: 0958 • ACR Convergence 2024
TCR Motifs Identify Unique Clones in African Americans with Systemic Sclerosis
Urvashi Kaundal¹, Chloe Borden², Devin Teehan², Brittany Dulek³, Justin Lack⁴, Ami Shah⁵, Maureen Mayes⁶, Daniel Shriner⁷, Ayo P. Doumatey⁷, Amy Bentley⁷, Robyn Domsic⁸, Thomas Medsger, Jr⁹, Paula Ramos¹⁰, Richard Silver¹¹, Virginia Steen¹², John Varga¹³, Vivien Hsu¹⁴, Lesley Ann Saketkoo¹⁵, Dinesh Khanna¹³, Elena Schiopu¹⁶, Jessica Gordon¹⁷, Lindsey Criswell¹⁸, Heather Gladue¹⁹, Chris Derk²⁰, Elana Bernstein²¹, S. Louis Bridges¹⁷, Victoria Shanmugam²², Lorinda Chung²³, Suzanne Kafaja²⁴, Reem Jan²⁵, Marcin Trojanowski²⁶, Avram Goldberg²⁷, Benjamin Korman²⁸, Faiza Naz²⁹, Stefania Dell'Orso³⁰, Adebowale Adeyemo⁷, Elaine Remmers³¹, Charles Rotimi⁷, Fredrick Wigley³², Francesco Boin³³, Daniel Kastner³⁴ and Pravitt Gourh²⁹, ¹Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Chevy Chase, MD, ²Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³Integrated Data Science Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁴Integrated Data Science Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, Bethesda, MD, ⁵Division of Rheumatology, Johns Hopkins University, Ellicott City, MD, ⁶UTHealth Houston Division of Rheumatology, Houston, TX, ⁷Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁸Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Verona, PA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, ¹²Georgetown University School of Medicine, Washington, DC, ¹³University of Michigan, Ann Arbor, MI, ¹⁴Department of Medicine, Rheumatology Division, Rutgers-RWJ Medical School, South Plainfield, NJ, ¹⁵New Orleans Scleroderma and Sarcoidosis Patient Care and Research Center, Louisiana State University and Tulane University Medical Schools, New Orleans, LA, ¹⁶Division of Rheumatology, Medical College of Georgia at Augusta University, Martinez, GA, ¹⁷Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹⁸Genomics of Autoimmune Rheumatic Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, Bethesda, MD, ¹⁹Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²⁰Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ²¹Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, ²²NIH Office of Autoimmune Disease Research in the Office of Research on Women's Health, National Institutes of Health, Bethesda, MD, Bethesda, MD, ²³Stanford University, Woodside, CA, ²⁴Division of Rheumatology, University of California, Los Angeles, Los Angeles, CA, ²⁵Section of Rheumatology, Department of Medicine, University of Chicago, Chicago, IL, ²⁶Department of Rheumatology, Boston University School of Medicine, Boston, MA, ²⁷NYU Langone Health - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁸University of Rochester, Rochester, NY, ²⁹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ³⁰Genomic Technology Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³¹Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³²Johns Hopkins University, Division of Rheumatology, Baltimore, MD, Baltimore, MD, ³³Cedars-Sinai Medical Center, Los Angeles, CA, ³⁴National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Systemic sclerosis (SSc) is a rare multisystem autoimmune disease that disproportionately affects African Americans (AA). Previous work from our lab has suggested a pivotal…
Abstract Number: 1871 • ACR Convergence 2024
A Seropositive RA Polygenic Risk Score Does Not Predict Progression to RA in an ACPA Positive Population
Tada Vargas¹, Lauren Vanderlinden², Patrick Carry³, Kristen Demoruelle⁴, Marie Feser¹, Katerina Kechris⁵, Jane Buckner⁶, William Robinson⁷, Gary Firestein⁸, Michael Holers¹, Kevin Deane⁹ and Jill Norris¹⁰, ¹Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ²Colorado School of Public Health, Monument, CO, ³Department of Orthopedics, University of Colorado School of Medicine, Aurora, CO, ⁴University of Colorado Anschutz Medical Campus, Golden, CO, ⁵Department of Biostatistics and Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, ⁶Benaroya Research Institute, Seattle, WA, ⁷Division of Immunology and Rheumatology, Stanford University, and VA Palo Alto Health Care System, Stanford, CA, ⁸University of California, San Diego, San Diego, CA, ⁹University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ¹⁰Colorado School of Public Health, Denver, CO
Background/Purpose: Serum autoantibodies, such as ACPA and RF, are commonly detectable prior to the development of seropositive clinical RA; however, not all individuals with these…
Abstract Number: 0766 • ACR Convergence 2024
Neutrophil Transcriptomics in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad¹, Tom Hill², Bhavisha Patel³, Emma Groarke⁴, Neal Young⁴, Stefania Dell'Orso⁵ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ³National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁵National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and…
Abstract Number: 0960 • ACR Convergence 2024
The Esophageal Epithelium in Systemic Sclerosis: Cellular and Molecular Dysregulation Revealed by Single-Cell RNA Sequencing
Matthew Dapas¹, Margarette Clevenger¹, Hadijat Makinde², Tyler Therron¹, Dustin Carlson¹, Mary Carns³, Kathleen Aren³, Carrie Richardson², Cenfu Wei², Lutfiyya Muhammad⁴, John Pandolfino¹, Harris Perlman², Deborah Winter⁵ and Marie-Pier Tetreault¹, ¹Northwestern University, Chicago, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Skokie, IL
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by vasculopathy and progressive fibrosis of the skin and internal organs. Individuals with SSc often…
Abstract Number: 2036 • ACR Convergence 2024
CCN6 Gene Mutation Induces Mitochondrial Dysfunction: The Cause of Progressive Pseudo-rheumatoid Dysplasia
Yanhong Li¹, Xiufeng Bai² and Yi Liu³, ¹West China School of Medicine and West China Hospital, Sichuan University, Cheng Du, Sichuan, China, ²West China Hospital, Sichuan University, Chengdu, Sichuan, China (People's Republic), ³West China Hospital of Sichuan University, Chengdu, Sichuan, China
Background/Purpose: Progressive pseudo-rheumatoid dysplasia (PPRD) is a rare autosomal recessive disorder characterized by non-inflammatory joint issues that primarily affect the articular cartilage. This leads to…

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