Abstracts tagged "genomics"

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…
Abstract Number: 1589 • ACR Convergence 2023
Epigenetic Regulation of DNMT3A by TFEB and DOT1L Through AMPK Signalling Orchestrates the Lysosomal Response of Macrophages During Gout and Clonal Hematopoiesis
Isidoro Cobo¹, Jessica Murillo-Saich², Mohnish Alishala¹, Stephen Calderon¹, Roxana Coras³, Nathanael Spann¹, Anyan Cheng⁴, Thomas Prohaska¹, Babak Razani⁵, Robert Terkeltaub¹, Benjamin Ebert⁶, Ru Liu Bryan⁷, Monica Guma⁸ and Christopher glass¹, ¹University of California San Diego, San Diego, CA, ²Department of Medicine, University of California San Diego, La Jolla, CA, ³Cedars-Sinai Medical Center, Los Angeles, CA, ⁴University of California San Diego, San Francisco, CA, ⁵Universit of Pittsburgh, Pittsburgh, PA, ⁶Dana-Farber Cancer Institute, Boston, MA, ⁷UCSD and VASDHS, San Diego, CA, ⁸San Diego VA Healthcare Service, La Jolla, CA
Background/Purpose: Gout is the most common form of inflammatory arthritis worldwide, which is characterised by the deposition of monosodium urate crystals (MSUc) in the joints…
Abstract Number: 0036 • ACR Convergence 2023
Using Genotyping and Chromatin Data in CD4+ T Cells to Nominate Causal Variants on JIA Risk Haplotypes and to Identify Their Target Genes
Emma Haley¹, gilad Barshad², Kaiyu Jiang³, Adam He², Edward J Rice⁴, Marc Sudman⁵, Susan Thompson⁶, Elizabeth Crinzi¹, Charles G Danko⁴ and James N Jarvis⁷, ¹Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, ²Cornell University, Ithaca, NY, ³University at Buffalo, Buffalo, NY, ⁴Baker Institute of Animal Health Cornell University, Ithaca, NY, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁶Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, ⁷University 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 risk has…
Abstract Number: 1600 • ACR Convergence 2023
Transcriptomic Characterization of Class II Lupus Nephritis and Outcomes
Jasmine Shwetar¹, Katie Preisinger¹, Devyn Zaminski², Philip Carlucci¹, Kristina Deonaraine¹, Qian Xiao³, Joseph Mears⁴, Siddarth Gurajala³, Izmirly peter⁵, Judith James⁶, Joel Guthridge⁶, Andrea Fava⁷, Brad Rovin⁸, Wade DeJager⁶, Ming Wu⁹, Deepak Rao¹⁰, Chaim Putterman¹¹, Betty Diamond¹², Derek Fine¹³, Jose Monroy-Trujillo¹³, Kristin Haag¹⁴, H Michael Belmont², William Apruzzese¹⁰, Anne Davidson¹², Fernanda Payan-Schober¹⁵, Richard Furie¹⁶, Paul Hoover¹⁰, Celine Berthier¹⁷, Maria Dall'Era¹⁸, Kerry Cho¹⁹, Diane L. Kamen²⁰, Kenneth Kalunian²¹, Jennifer Anolik²², Soumya Raychaudhuri¹⁰, Nir Hacohen²³, Michelle Petri²⁴, Robert Clancy²⁵, David Wofsy¹⁸, Arnon Arazi²⁶, Kelly Ruggles⁹, Jill Buyon²⁵ and The Accelerating Medicines Partnership SLE/RA²⁷, ¹New York University School of Medicine, New York, NY, ²NYU School of Medicine, New York, NY, ³Harvard Medical School, Boston, MA, ⁴Michigan University, Ann Arbor, MI, ⁵NYU, New York, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University, Baltimore, MD, ⁸Ohio State University, Columbus, OH, ⁹NYU Langone, New York, NY, ¹⁰Brigham and Women's Hospital, Boston, MA, ¹¹Albert Einstein College of Medicine, Bronx, NY, ¹²Feinstein Institutes for Medical Research, Manhasset, NY, ¹³Johns Hopkins School of Medicine, Baltimore, MD, ¹⁴Thomas Jefferson University, Philadelphia, PA, ¹⁵Texas Tech University Health Sciences Center, El Paso, TX, ¹⁶Northwell Health, Manhasset, NY, ¹⁷University of Michigan, Ann Arbor, MI, ¹⁸University of California San Francisco, San Francisco, CA, ¹⁹UCSF Health, San Francisco, CA, ²⁰Medical University of South Carolina, Charleston, SC, ²¹University of California San Diego, La Jolla, CA, ²²University of Rochester Medical Center, Rochester, NY, ²³Broad Institute of MIT and Harvard, Cambridge, MA, ²⁴Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ²⁵NYU Grossman School of Medicine, New York, NY, ²⁶Broad Institute of MIT and Harvard, Melrose, MA, ²⁷University of Colorado Anschutz Medical Campus, Aurora, CO
Background/Purpose: Lupus Nephritis (LN) significantly reduces the survival and life expectancy of patients with SLE. Given this, considerable effort has gone into characterizing the histologic…
Abstract Number: 013 • 2023 Pediatric Rheumatology Symposium
Applying Pathway Analysis to Whole Genome Data to Identify Pathophysiologic Pathways in Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Luis Franco², Linda Hiraki³, Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng², Mariana Kaplan² and Laura Lewandowski², ¹NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³The Hospital for Sick Children, Toronto, ON, Canada, ⁴University of Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de Mexico, Mexico
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but twin/sibling high concordance rate suggests…
Abstract Number: 0014 • ACR Convergence 2022
The Expanded CD21 Low B Cell Subpopulation in Ankylosing Spondylitis Consists Mainly of Antigen-Inexperienced Cells
Rick Wilbrink¹, Linda van der Weele², Anneke Spoorenberg¹, Niek De Vries², Frans Kroese¹ and Gwenny Verstappen¹, ¹University Medical Center Groningen, Groningen, Netherlands, ²University Medical Center Amsterdam, Amsterdam, Netherlands
Background/Purpose: The role of B cells in the pathogenesis of ankylosing spondylitis (AS) remains relatively understudied. Nevertheless, available evidence shows presence of B cells at…
Abstract Number: 1128 • ACR Convergence 2022
The Causal Association Between Osteoarthritis and Common Comorbidities: A Mendelian Randomisation Study
William Thompson¹, Subhashisa Swain², Sizheng Zhao³, Anne Kamps⁴, Carol Coupland⁵, Chang-Fu Kuo⁶, Michael Doherty⁵ and Weiya Zhang⁵, ¹University of Nottingham, Exeter, United Kingdom, ²University of Oxford, Oxford, United Kingdom, ³The University of Manchester, Manchester, United Kingdom, ⁴Erasmus University Medical Centre, Rotterdam, Netherlands, ⁵University of Nottingham, Nottingham, United Kingdom, ⁶Chang Gung Memorial Hospital, Taoyuan, Taiwan
Background/Purpose: Osteoarthritis (OA) is the most common cause of joint pain and a major cause of disability. OA commonly associates with other conditions, such as…
Abstract Number: 2221 • ACR Convergence 2022
The Molecular Endotypes of Type 1 and Type 2 SLE
Robert Robl¹, Amanda Eudy², Prathyusha Bachali³, Jennifer L Rogers⁴, Megan Clowse⁵, David Pisetsky⁶ and Peter lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²Duke University, Raleigh, NC, ³AMPEL BioSolutions, Redmond, WA, ⁴Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, ⁵Duke University, Durham, NC, ⁶Duke University Medical Center, Durham, NC
Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…

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