Abstracts tagged "genomics"

Abstract Number: 0019 • ACR Convergence 2023
Use of High-plex Data Reveals Novel Insights into the Temporal Artery Processus of Giant Cell Arteritis
Simon Parreau¹, Elsa Molina², Stéphanie Dumonteil¹, Radjiv Goulabchand³, Thomas Naves⁴, Melanie Bois⁵, Anne-Laure Fauchais¹, Eric Liozon⁶, Marie-Odile Jauberteau⁴, Cornelia M. Weyand⁷ and Kim-Heang Ly¹, ¹Dupuytren Hospital, Limoges, France, ²Next Generation Sequencing Core, Salk Institute for Biological Studies, La Jolla, CA, ³University of California San Diego, La Jolla, CA, ⁴INSERM U1308, Limoges, France, ⁵Mayo Clinic, Rochester, MN, ⁶Department of Internal Medicine, University Hospital of Limoges, Limoges Cedex, Limoges, France, ⁷Mayo Clinic School of Medicine and Stanford University, Rochester, MN
Background/Purpose: Uncover the key coding genes to define new biomarkers or pathways associated with GCA by performing the first in situ spatial profiling characterization of…
Abstract Number: 0873 • ACR Convergence 2023
FOXO Activators as Drugs for Osteoarthritis
Ichiro Kurakazu, Merissa Olmer, Kevin Myers and Martin K Lotz, Scripps Research Institute, La Jolla, CA
Background/Purpose: Forkhead box O (FOXO) proteins are a family of transcription factors involved in lifespan, aging, and autophagy. FOXO are essential for maintaining cartilage homeostasis…
Abstract Number: 2331 • ACR Convergence 2023
Molecular Predictors of Treatment Response in Two Trials of Abatacept in Systemic Lupus Erythematosus
Kevin Thomas¹, Miles Smith¹, Carla Guthridge¹, Nicolas Dominguez¹, Susan Macwana¹, Wade DeJager¹, Catriona Wagner¹, Peter Schafer², Stan Kamp¹, Betty Diamond³, David Wofsy⁴, Aikaterini Thanou⁵, Cristina Arriens⁶, Cynthia Aranow³, Joan Merrill¹, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Bristol Myers Squibb, Belle Mead, NJ, ³Feinstein Institutes for Medical Research, Manhasset, NY, ⁴University of California San Francisco, San Francisco, CA, ⁵University of Oklahoma Health, Edmond, OK, ⁶Oklahoma Medical Research Foundation and University of Oklahoma Health Sciences Center, Department of Arthritis & Clinical Immunology, Oklahoma City, OK
Background/Purpose: Abatacept (ABA) is a fusion protein that disrupts T cell co-stimulation by inhibiting interactions between CD28 and CD80/86. ABA is effective in RA, but…
Abstract Number: 0022 • ACR Convergence 2023
Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA
Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
Abstract Number: 0918 • ACR Convergence 2023
Network Analysis of Genome Sequences Identifies Important Pathways in the Pathogenesis of Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Sneha Dass¹, Linda Hiraki², Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng⁶, Mariana Kaplan⁷, Luis Franco⁸ and Laura Lewandowski⁹, ¹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Silverman, Toronto, ON, Canada, ⁴Paediatric Rheumatology, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁷Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, ⁸Functional Immunogenomics Section, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD, ⁹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but high twin/sibling concordance rates suggest…
Abstract Number: 2345 • ACR Convergence 2023
Paired Kidney Biopsies from the AURORA 2 Study of Voclosporin in Active Lupus Nephritis
Samir Parikh¹, Salem Almaani², Arnon Arazi³, Huijuan Song¹, Pearlly Yan¹, Estela Puchulu-Campanella¹, Clint Abner⁴, Ernie Yap⁴, Krista Piper⁴, Robert B. Huizinga⁵ and Henry Leher⁴, ¹Ohio State University, Columbus, OH, ²Ohio State University Medical Center, Columbus, OH, ³Broad Institute of MIT and Harvard, Melrose, MA, ⁴Aurinia Pharmaceuticals Inc., Edmonton, AB, Canada, ⁵Reformation Consulting Services, North Saanich, BC, Canada
Background/Purpose: Voclosporin is approved for the treatment of adults with active lupus nephritis. Addition of voclosporin to mycophenolate mofetil (MMF) and low-dose glucocorticoids in the…
Abstract Number: 0026 • ACR Convergence 2023
Mapping Cellular Landscape of Esophageal Epithelium in Systemic Sclerosis Using Single-cell Transcriptomics
Matthew Dapas¹, Hadijat Makinde², Tyler Therron², Margarette Clevenger², Cenfu Wei², Mary Karns³, Kathleen Aren³, Dustin Carlson², Alexandra Soriano¹, Lutfiyya Muhammad⁴, John Pandolfino⁵, Harris Perlman², Deborah Winter⁶ and Marie-Pier Tetreault², ¹Northwestern University FSM Division of Rheumatology, Chicago, IL, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Feinberg School of Medicine, Wilmette, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Esophageal involvement is one of the strongest predictors of early mortality in individuals with systemic sclerosis (SSc). Individuals with SSc and esophageal involvement typically…
Abstract Number: 0948 • ACR Convergence 2023
Nintedanib Alters Fibroblast and Macrophage Diversity in a 3D Skin Model of Systemic Sclerosis (SSc)
Noelle Kosarek¹, Tamar Abel², Sasha Shenk³, Tammara Wood², Jonathan Garlick⁴, Patricia Pioli⁵ and Michael Whitfield⁵, ¹Dartmouth Geisel School of Medicine, Lebanon, NH, ²Dartmouth College, Hanover, NH, ³Tufts University, Boston, MA, ⁴Tufts University School of Dental Medicine, Boston, MA, ⁵Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of the skin and internal organs. While the tyrosine kinase inhibitor Nintedanib is…
Abstract Number: 2431 • ACR Convergence 2023
Integrated Single Cell Multi-omics Analysis in At-Risk for Future Rheumatoid Arthritis (RA) and Early RA Reveals Shared Transcription Factor Profiles in Multiple Cell Lineages
Cong Liu¹, David Boyle¹, Adam Savage², Marie Feser³, Kristen Demoruelle³, kristine Kuhn⁴, Michael Holer³, kevin Deane³, Palak Genge², Morgan Weiss², Veronica Hernandez², Julian Reading², Jane Buckner⁵, Tom Bumol², Mark Gillespie², Peter Skene², Wei Wang⁶ and Gary Firestein¹, ¹University of California San Diego, San Diego, CA, ²Allen Institute for Immunology, Seattle, WA, ³University of Colorado Anschutz Medical Campus, Aurora, CO, ⁴University of Colorado School of Medicine, Aurora, CO, ⁵Benaroya Research Institute at Virginia Mason, Seattle, WA, ⁶University of California San Diego, La Jolla, CA
Background/Purpose: Identifying molecular signatures associated with anti-citrullinated protein antibody (ACPA) positive individuals who are 'at-risk' for future RA (At-Risk) and early RA (ERA) requires comprehensive…
Abstract Number: 0027 • ACR Convergence 2023
Association of HLA-DRB1 and ANKRD55/IL6ST Regions with Polymyalgia Rheumatica Diagnosis: A Genome Wide Association Study from UK Biobank and FinnGen
Mehmet Hocaoglu¹, Jamal Mikdashi², James Perry² and Charles Hong², ¹University of Maryland School of Medicine, Pittsburgh, PA, ²University of Maryland School of Medicine, Baltimore, MD
Background/Purpose: The existing literature on the genetics of polymyalgia rheumatica (PMR) is limited to candidate gene studies with small sample sizes. There is a need…
Abstract Number: 0958 • ACR Convergence 2023
Shared Genetic Susceptibility Between Systemic Sclerosis and Primary Biliary Cholangitis: Analyses from Genome-Wide Association Studies
Yiming Luo¹, Atlas Khan², Gabriel Perreault³, Lili Liu², Cue Hyunkyu Lee⁴, Pravitt Gourh⁵, Sydney Pomenti³, Krzysztof Kiryluk² and Elana Bernstein⁶, ¹Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ²Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ³Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY, ⁴Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY
Background/Purpose: Systemic sclerosis (SSc) is a multi-system autoimmune disorder characterized by organ inflammation, fibrosis, and vasculopathy. Primary biliary cholangitis (PBC) is an autoimmune disorder involving…
Abstract Number: 2451 • ACR Convergence 2023
TET2 Clonal Hematopoiesis and Incident Rheumatoid Arthritis: Results from the UK Biobank
Karen Costenbader¹, Zhi Yu², Emily G. Oakes³, Michelle Robinette⁴, Mridul Agarwal⁵, Buu Truong⁶, Md Mesbah Uddin⁶, Alexander Bick⁷, Abhishek Niroula⁶, Daniel Solomon³ and Pradeep Natarajan⁸, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Broad Institute; Massachusetts General Hospital, Cambridge, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham and Women's Hospital; Dana-Farber Cancer Institute, Boston, MA, ⁵Dana-Farber Cancer Institute, Boston, MA, ⁶Broad Institute, Cambridge, MA, ⁷Broad Institute; Vanderbilt University Medical Center, Nashville, TN, ⁸Broad Institute; Massachusetts General Hospital, Boston, MA
Background/Purpose: Clonal hematopoiesis (CH), the clonal expansion of somatically mutated blood cells in people without hematologic malignancy, is found in ~10% of people age ≥…
Abstract Number: 0031 • ACR Convergence 2023
A Systematic Approach for Identifying Causal Variants and Their Target Genes on JIA Risk Haplotypes
Kaiyu Jiang¹, tao liu², Ryan Tewhey³, Susan Kales³, Yungki Park⁴ and James N Jarvis⁵, ¹University at Buffalo, Buffalo, NY, ²Roswell Park Cancer Institute, Buffalo, NY, ³Jackson Laboratories, Bar Harbor, ME, ⁴University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, NY, ⁵University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…
Abstract Number: 1148 • ACR Convergence 2023
A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome
Ashmia Saif¹, Hafsa Nomani², Frank Hwang², Jie Yang² and Qingping Yao², ¹Stony Brook University Hospital, Syosset, NY, ²Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…
Abstract Number: 0035 • ACR Convergence 2023
Using Genotyping and Functional Data from Monocytes to Identify Risk-Driving SNPs on JIA Risk Haplotypes
Emma Haley¹, gilad Barshad², Adam He², Edward J Rice³, Elizabeth Crinzi¹, Marc Sudman⁴, Susan Thompson⁵, Charles G Danko³ and James N Jarvis⁶, ¹Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, ²Cornell University, Ithaca, NY, ³Baker Institute of Animal Health Cornell University, Ithaca, NY, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, ⁶University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…

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