Abstracts tagged "genomics"

Abstract Number: 1804 • ACR Convergence 2024
Investigating Adaptive Immune Receptor Repertoires by Deep Immune Cell Phenotyping in Preclinical Autoimmunity Development
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: A loss of systemic self-tolerance to anti-nuclear autoantibodies (ANAs) is one of the main hallmarks of SLE. However, most healthy females with ANAs will…
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: 0037 • ACR Convergence 2023
New Histological Approach in Spatial Transcriptomics Implicates Glandular Cell Involvement in Pathophysiology of Sjögren’s Disease
Paulina Czarnota¹, Rick Wilbrink², Bhuwan Khatri¹, Anna Stolarczyk¹, Cherilyn Pritchett Frazee¹, Chuang Li¹, Caleb Marlin¹, Kyle Wright³, Kandice Tessneer¹, Lida Radfar⁴, Judith James¹, Robert Scofield¹, Indra Adrianto⁵, Astrid Rasmussen¹, Joel Guthridge¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Medical Center Groningen, Groningen, Netherlands, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴University of Oklahoma College of Dentistry, Oklahoma City, OK, ⁵Henry Ford Health, Detroit, MI
Background/Purpose: 10X Visium spatial transcriptomics evaluates gene expression in a 50μm tile coordinate of a sectioned tissue, yielding heterogeneous cell sampling. Spatial PCA algorithm was…
Abstract Number: 1660 • ACR Convergence 2023
Still’s Disease Patients with High Interferon-stimulated Gene Expression Have Enrichment of Rare, de Novo and Recessive Protein Altering Variants in Innate Immune Pathways
Mariana Correia Marques¹, Zuoming Deng², Navid Chowdhury², Elizabeth Schmitz³, Alana Platukus⁴, Stephen Brooks⁵, Carol Lake², Ly-Lan Bergeron², Michelle Millwood² and Michael Ombrello⁶, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), St. Louis, MO, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Philadelphia, PA, ⁵Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skins Diseases, National Institutes of Health, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease (systemic juvenile idiopathic arthritis in children, adult-onset Still’s disease in adults) is an enigmatic inflammatory condition that affects people of all ages.…
Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Danielle Rubin¹, Emily Shuldiner², Mallika Datta¹, Elizabeth Schmitz¹, Alexei Grom³, Dirk Foell⁴, Marco Gattorno⁵, John Bohnsack⁶, Rae Yeung⁷, Sampath Prahalad⁸, Elizabeth Mellins⁹, Jordi Anton Lopez¹⁰, Claudio Len¹¹, Sheila Oliveira¹², Patricia Woo¹³, Seza Ozen¹⁴, INCHARGE Consortium¹, Zuoming Deng¹⁵ and Michael Ombrello¹, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Department of Biology, Stanford University, Stanford, CA, ³Division of Rheumatology, Cincinnati Children`s Hospital, Cincinnati, OH, ⁴University Hospital Münster, Münster, Germany, ⁵UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ⁶University of Utah, Salt Lake City, UT, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Emory University School of Medicine, Children's Pediatric Institute, Atlanta, GA, ⁹Stanford University, Stanford, CA, ¹⁰Pediatric Rheumatology Department, Hospital Sant Joan e Deu, Barcelona University, Barcelona, Spain, ¹¹São Paulo Federal University, São Paulo, Brazil, ¹²Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹³University College London, London, United Kingdom, ¹⁴Hacettepe University Medical Faculty, Ankara, Turkey, ¹⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…
Abstract Number: 1694 • ACR Convergence 2023
Transcriptomic Analysis of the Impact of Iberdomide on Patients with SLE
Prathyusha Bachali¹, Shimon Korish², Yanhua Hu³, Peter Schafer⁴, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²Bristol Myers Squibb, Summit, NJ, ³Bristol Myers Squibb, Princeton, NJ, ⁴Bristol Myers Squibb, Belle Mead, NJ
Background/Purpose: Iberdomide is a high affinity cereblon ligand that promotes ubiquitylation and proteasomal degradation of Ikaros (IKZF1) and Aiolos (IKZF3) transcription factors and, thereby altering…
Abstract Number: 0063 • ACR Convergence 2023
Investigating Macrophage Repopulation in the Synovium
Jessica Maciuch¹, Yidan Wang², Slim Fourati¹, Harris Perlman¹ and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Skokie, IL
Background/Purpose: Rheumatoid Arthritis (RA) is an autoimmune disease characterized by chronic inflammation of the joints. Macrophages are a key mediator of pro-inflammatory signaling, contributing to…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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