Abstracts tagged "genomics"

Abstract Number: 1935 • ACR Convergence 2021
Skewed Escape from X-inactivation: Insights into the Female Bias of Sjögren’s Syndrome
Teressa Shaw¹, Wei Zhang², Sara McCoy³, Xueer Qiu¹, Adam Pagenkopf¹, Robert Hal Scofield⁴, Jacques Galipeau³ and Yun Liang¹, ¹University of Wisconsin-Madison, Madison, WI, ²University of California San Diego, La Jolla, CA, ³University of Wisconsin, Madison, WI, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Many autoimmune diseases feature increased prevalence in females, with primary Sjögren's syndrome (pSS) being the most female-predominant autoimmune disease with a female-to-male ratio of…
Abstract Number: 1938 • ACR Convergence 2021
A Phenome-Wide Association Study of Genes Associated with COVID-19 Severity Reveals Shared Genetics with Rheumatic Conditions
Anurag Verma¹, Noah Tsao¹, Lauren Thomann², Yuk-Lam Ho², Rotonya Carr¹, Dana crawford³, Jimmy efird⁴, Jennifer Huffman², Adriana Hung⁵, Kerry Ivey², Sudha Iyengar³, Michael Levin⁶, Shiuh-Wen luoh⁷, Julie Lynch⁸, Pradeep Natarajan⁹, Saiju Pyarajan¹⁰, alexander Bick¹¹, Lauren Costa², Giulio Genovese¹², Richard Hauger¹³, Ravi madduri¹⁴, Gita Pathak¹⁵, Renato polimanti¹⁵, Benjamin Voight¹, Marijana Vujkovic¹, Maryam Zekavat¹⁵, Hongyu Zhao¹⁵, Marylyn Ritchie¹, Kyong-Mi Chang¹⁶, Kelly Cho², Juan casas², Phil Tsao¹⁷, J. Michael Gaziano², Christopher ODonnell², Scott Damrauer¹ and Katherine Liao¹⁸, ¹University of Pennsylvania, Philadelphia, PA, ²VA Boston Healthcare System, Boston, MA, ³Case Western Reserve University, Cleveland, OH, ⁴DVAHCS, Durham, ⁵Vanderbilt University Medical Center, Nashville, TN, ⁶University of Pennsylvania, Philadelphia, ⁷Oregon Health & Science University, Portland, ⁸VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT, ⁹Massachusetts General Hospital, Boston, MA, ¹⁰Partners, Boston, ¹¹Vanderbilt University, Nashville, TN, ¹²Harvard Medical School, Boston, MA, ¹³University of California San Diego, San Diego, CA, ¹⁴Argon National Lab, Chicago, IL, ¹⁵Yale University, New Haven, CT, ¹⁶VA Philadelphia, Philadelphia, PA, ¹⁷VA Palo Alto, Palo Alto, CA, ¹⁸Brigham and Women's Hospital, Boston, MA
Background/Purpose: Severe coronavirus disease 2019 (COVID-19) is associated with a broad range of clinical conditions. International efforts have led to the identification of risk alleles…
Abstract Number: 0174 • ACR Convergence 2020
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner¹, Elaine Remmers², Miranda Marion³, Marc Sudman⁴, Colleen Satorius⁵, Patricia Woo⁶, Sampath Prahalad⁷, Carl Langefeld⁸, Susan Thompson⁹, Wendy Thomson¹⁰ and Michael Ombrello¹¹, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, ³Wake Forest School of Medicine, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Great Ormond Street Hospital, London, United Kingdom, ⁷Emory + Children's Pediatric Institute, Atlanta, GA, ⁸Wake Forest School of Medicine, Winston Salem, NC, ⁹Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, ¹⁰Centre for Genetics and Genomics Versus Arthritis, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ¹¹Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
Abstract Number: 1957 • ACR Convergence 2020
A Single Cell Stromal Atlas Identifies Conserved Fibroblast Phenotypes Expanded in the Inflamed Synovium, Lung, Intestine, and Salivary Gland
Ilya Korsunsky¹, Kevin Wei², Mathilde Pohin³, Edy Kim⁴, Jason Turner⁵, Saba Nayar⁶, Benjamin Fisher⁷, Karim Raza⁸, Matthias Friedrich⁹, Jennifer Marshall⁵, Adam Croft⁵, Mark Coles¹⁰, Andreas Frei¹¹, Andrew Filer¹², Francesca Barone⁵, Kara Lassen¹¹, Fiona Powrie¹⁰, Christopher Buckley¹³, Michael Brenner² and Soumya Raychaudhuri¹⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Oxford, United Kingdom, ⁴Brigham and Women’s Hospital, Division of Pulmonary and Critical Care Medicine, Boston, MA, ⁵Rheumatology Research Group, Institute for Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Queen Elizabeth Hospital, Birmingham, United Kingdom, ⁶Institute for Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, ⁷University Hospitals Birmingham NHS Foundation Trust-Birmingham, Birmingham, United Kingdom, ⁸Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, United Kingdom, ⁹Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, University of Oxford, Oxford, United Kingdom, ¹⁰Kennedy Institute of Rheumatology, University of Oxford, Oxford, United Kingdom, ¹¹Roche Pharma Research and Early Development, Immunology, Infectious Diseases and Ophthalmology (I2O) Discovery and Translational Area, Roche Innovation Center Basel, Basel, Switzerland, ¹²Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom, ¹³University of Birmingham, Birmingham, United Kingdom, ¹⁴Brigham and Women’s Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Pro-inflammatory fibroblasts have been independently implicated in the pathogenesis of rheumatoid arthritis (RA), inflammatory bowel disease (IBD), interstitial lung disease (ILD), and Sjogren’s syndrome…
Abstract Number: 0175 • ACR Convergence 2020
Identifying Immuno-phenotypes in Juvenile Localized Scleroderma with RNA Sequencing
Christina Schutt¹, Emily Mirizio², Kaila Schollaert-Fitch², Claudia Salgado³, Miguel Reyes-Mugica³ and Kathryn Torok², ¹University of Pittsburgh Medical Center, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Pittsburgh Medical Center, Pittsburgh
Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease of the skin and underlying tissue characterized by an early inflammatory infiltrate followed by fibrosis and…
Abstract Number: 1969 • ACR Convergence 2020
The Dynamics of Macrophage Sub-Populations in the Inflammatory Phase Following Joint Trauma
Samuel Hamilton¹, Anna Montgomery¹, Niamh Fahy², Maximilian Mayr¹, Shang-Yang Chen¹, Gaurav Gadhvi¹, Yvonne Bastiaansen-Jenniskens² and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Erasmus MC, Rotterdam, Netherlands, ³Northwestern University Division of Rheumatology, Chicago, IL
Background/Purpose: Macrophages fulfill critical functions in maintaining tissue homeostasis in steady-state, as well as in inflammation and immune response. In the joint synovium, we have…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 0495 • ACR Convergence 2020
Epstein Barr Virus (EBV), an Etiologic Factor for Systemic Lupus Erythematosus (SLE), Interacts with SLE Risk Loci Through EBV-encoded Transcription Co-factors (co-TFs)
Viktoryia Laurynenka¹, Xiaoting Chen¹, Sreeja Parameswaran¹, Shruti Eswar², Kenneth Kaufman³, Bahram Namjou⁴, Matthew Weirauch⁵, Leah Kottyan⁴ and John Harley⁶, ¹Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children’s Hospital Medical Center, Cincinnati, ³Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, Cincinnati, OH, ⁵Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁶Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH
Background/Purpose: SLE affects millions worldwide. The etiology of this complex autoimmune disease is the consequence of both strong genetic and environmental components. Genome-wide association studies…
Abstract Number: 0659 • ACR Convergence 2020
Polynesian-Specific Gout-Associated Frameshift Variant in PRPSAP1
Megan Leask¹, Nicola Dalbeth², Lisa Stamp³, Tony Merriman⁴, Amanda Phipps-Green⁴, Ruth Topless⁴, James Boocock⁵, Hyon Choi⁶, Keresoma Leaupepe¹ and Eli Stahl⁷, ¹University of Otago, Dunedin, Otago, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago Christchurch, Christchurch, New Zealand, ⁴University of Otago, Dunedin, New Zealand, ⁵David Geffen School of Medicine at UCLA, Los Angeles, CA, ⁶Massachusetts General Hospital, Department of Medicine, Division of Rheumatology, Lexington, MA, ⁷Mt Sinai School of Medicine, New York, NY
Background/Purpose: Polynesian (NZ Māori and Pacific) populations have increased prevalence of gout. Hyperuricaemia is contributed to by increased urate production in the liver via the…
Abstract Number: 0661 • ACR Convergence 2020
Genomic Regions Jointly Associated with eGFR and Serum Urate: Implications for Shared Genetic Etiology of Hyperuricemia and Chronic Kidney Disease
Nick Sumpter¹, Alexa Lupi², Megan Leask³, Tony Merriman⁴, Ana Vazquez² and Richard Reynolds¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Michigan State University, East Lansing, MI, ³University of Otago, Dunedin, Otago, New Zealand, ⁴University of Otago, Dunedin, New Zealand
Background/Purpose: Gout and hyperuricemia (HU), serum urate (SU) > 6.8 mg/dL, often present in the context of chronic kidney disease. It has long been known…
Abstract Number: 0700 • ACR Convergence 2020
Lipoxin A4 Induces Lipid Class Switching and Inflammation Resolution at the Genomic Level in Human Osteoarthritis
Mandar Dave¹, Abul Islam², Akshat Parekh³, Jay Patel⁴, Arushi Chawla⁵ and Ashok Amin⁶, ¹Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, ²Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh, ³Rutgers Robert Wood Johnson Medical School, Piscataway, NJ, ⁴Northeast Ohio Medical University, Rootstown, OH, ⁵Gujarat Forensic Science University, Gujarat, India, ⁶Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, NY
Background/Purpose: Human OA-affected cartilage does not show the cardinal signs of inflammation (redness and swelling with heat and pain—rubor et tumor cum calore et dolor) because…
Abstract Number: 0839 • ACR Convergence 2020
Single-Cell Transcriptomics of Mouse and Human Lupus Nephritis Identifies Conserved Myeloid Populations Across Species
Paul Hoover¹, Michael Peters², David Lieb³, Rakesh Mishra⁴, Nir Hacohen² and Anne Davidson⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, ³Broad Institute, Boston, MA, ⁴Feinstein Institute, Manhasset, NY, ⁵Northwell Health, New York
Background/Purpose: We recently identified novel immune cell states in the kidneys of lupus nephritis patients (Arazi et al, Nature Immunology 2019). To determine the similarities…
Abstract Number: 0936 • ACR Convergence 2020
Urine Proteomics and Single Cell Transcriptomics Identify IL-16 as a Biomarker for Lupus Nephritis
Andrea Fava¹, Jill Buyon², Chandra Mohan³, Ting Zhang³, H. Michael Belmont⁴, Peter Izmirly⁵, Robert Clancy⁶, Jose Monroy-Trujillo⁷, Celine Berthier⁸, Anne Davidson⁹, Nir Hacohen¹⁰, David Wofsy¹¹, Deepak Rao¹², Soumya Raychaudhuri¹³, The Accelerating Medicines Partnership in SLE Network¹⁴, William Apruzzese¹⁵ and Michelle Petri¹⁶, ¹Johns Hopkins University, Baltimore, MD, ²Department of Medicine, NYU School of Medicine, New York, NY, ³UT Houston, Houston, ⁴New York University, New York, NY, ⁵Department of Medicine, New York University School of Medicine, New York, NY, ⁶NYU School of Medicine, New York, ⁷Johns Hopkins University, Baltimore, ⁸University of Michigan, Ann Arbor, ⁹Northwell Health, New York, ¹⁰Broad Institute, Boston, ¹¹University of California San Francisco, San Francisco, CA, ¹²Brigham and Women's Hospital, Boston, MA, ¹³Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, ¹⁴Multiple Institutions, Multiple Cities, ¹⁵., Boston, ¹⁶Johns Hopkins University School of Medicine, Timonium, MD
Background/Purpose: Treatment of lupus nephritis relies on renal histopathological features. However, renal biopsies do not capture patient-specific active biological pathways. Urine proteomic biomarkers could revolutionize…
Abstract Number: 0979 • ACR Convergence 2020
The Identification of Shared and Unique Myeloid Cell States in Pre- and Post-nephritic Lupus Mouse Models, Sle.Yaa1 and NZBW
Paul Hoover¹, Michael Peters², David Lieb³, Heather Geiger⁴, Rakesh Mishra⁵, Nir Hacohen² and Anne Davidson⁶, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, ³Broad Institute, Boston, MA, ⁴New York Genome Center, New York, NY, ⁵Feinstein Institute, Manhasset, NY, ⁶Northwell Health, New York
Background/Purpose:Poor renal prognosis in lupus nephritis (LN) is associated with an abundance of renal macrophages and dendritic cells (DCs) but the role of these cells…
Abstract Number: 1443 • ACR Convergence 2020
High-dimensional Analyses of Checkpoint-inhibitor Related Arthritis Synovial Fluid Cells Reveal a Unique, Proliferating CD38hi Cytotoxic CD8 T Cell Population Induced by Type I IFN
Runci Wang¹, Karmela Kim Chan², Amy Cunningham-Bussel¹, Gregory Vitone³, Aidan Tirpack², Caroline Benson², Gregory Keras⁴, Anna Helena Jonsson⁵, Michael Brenner⁵, Laura Donlin⁶, Anne Bass⁷ and Deepak Rao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Hospital For Special Surgery, New York, NY, ³Hospital for Special Surgery, New York, ⁴Brigham and Women’s Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Hospital for Special Surgery, Weill Cornell Medicine, New York, ⁷Hospital for Special Surgery/Weill Cornell Medicine, New York, NY
Background/Purpose: Checkpoint inhibitors (CI) used to treat cancer frequently trigger immune-related adverse events, including inflammatory arthritis. CI-related arthritis (CIrA) occurs in ~5% of treated patients,…

« Previous Page
1
…
8
9
10
11
12
…
15
Next Page »

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].