Abstracts tagged "genomics"

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…
Abstract Number: 0017 • ACR Convergence 2022
Intra-articular Injection of Bacterial DNA Amplified from Human OA Patient Cartilage Worsens OA Outcomes in Mice
Leoni Schlupp¹, Emmaline Prinz¹, Vladislav Izda², Emily Nguyen¹, Christopher Dunn³ and Matlock Jeffries¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, New York, NY, ³University of Oklahoma Health Sciences Center, Edmond, OK
Background/Purpose: We have previous demonstrated a bacterial DNA signature within cartilage of humans and mice and shown shifts in this signature with OA development. However,…
Abstract Number: 1131 • ACR Convergence 2022
Integrating Genome and Transcriptome-Wide Associations with Real-World Data to Assess Risk for Leukopenia in Patients Taking Azathioprine
Puran Nepal, Jacy Zanussi, Alyson Dickson, Laura Daniel, Tyne Miller-Fleming, Peter Straub, Adriana Hung, Wei-Qi Wei, Nancy Cox, Michael Stein, QiPing Feng and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Azathioprine is used to treat several autoimmune conditions, but its use is limited by side effects. Leukopenia, a severe, potentially life-threatening side effect is…
Abstract Number: 2224 • ACR Convergence 2022
Genes Causative of Primary Immunodeficiency Are Risk Factors for and Over-expressed in Systemic Lupus Erythematosus
Haley Davis¹, Adam Labonte¹, Katherine Owen², Erika Hubbard¹, Jessica Kain¹, Brian Kegerreis¹, Prathyusha Bachali³, Amrie Grammer⁴ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL BioSolutions, Redmond, WA, ⁴AMPEL LLC, Charlottesville, VA
Background/Purpose: Systemic lupus erythematosus (SLE) is a polygenic autoimmune disease whose specific causes are incompletely understood and for which there exists no single comprehensive diagnostic…
Abstract Number: 0050 • ACR Convergence 2022
Effect of Disease-modifying Anti-rheumatic Drugs on Lung Microenvironment of SKG Mice
Sung Hae Chang¹, Jeongjun Choe², Seon Uk Kim³, Jeong Yeon Kim⁴, Sung Won Lee⁵, Jeong Seok Lee⁶ and Eun Young Lee⁴, ¹Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, Republic of Korea, ²Sungkyunkwan University, Seoul, Republic of Korea, ³Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea, ⁴Seoul National University College of Medicine, Seoul, Republic of Korea, ⁵Sooncheonhyang University College of Medicine, Seoul, Republic of Korea, ⁶Korea Advanced Institute of Science and Technology, KAIST, Graduate school of Medical Science and Engineering, Daejeon, Republic of Korea
Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is one of the pivotal extrapulmonary conditions. However, the pathophysiology of RA-ILD, including the effect of disease-modifying anti-rheumatoid…

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