Abstracts tagged "Gene Expression"

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: 1506 • ACR Convergence 2020
Correction of Sjögren’s Syndrome Fluid Secretion Deficits in Salivary Gland Acinar Cells by Aquaporin-1 Gene Transfer
Paola Perez¹, Blake Warner², Sandra Wainer¹, Youngmi Ji¹, Thomas Pranzatelli¹ and Jay Chiorini¹, ¹Nidcr, National Institute of Health, Bethesda, MD, ²National Institute of Dental and Craniofacial Research, Bethesda
Background/Purpose: The hallmark clinical complaints in Sjögren’s syndrome (SS) are dry mouth and dry eyes related to salivary and lacrimal glands dysfunction. Reduced salivation reflects…
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: 1525 • ACR Convergence 2020
Intergenic HLA Variants in African American Patients with Systemic Sclerosis Regulate Expression of HLA-DRB1
Urvashi Kaundal¹, Julia Hartman², Chloe Borden², Janet Wang³, Ami Shah⁴, Maureen Mayes⁵, Ayo Doumatey⁶, Amy Bentley⁷, Daniel Shriner⁶, Robyn Domsic⁸, Thomas Medsger⁹, Paula Ramos¹⁰, Richard Silver¹¹, Virginia Steen¹², John Varga¹³, Vivien Hsu¹⁴, Lesley Ann Saketkoo¹⁵, Elena Schiopu¹⁶, Dinesh Khanna¹⁷, Jessica Gordon¹⁸, Lindsey Criswell¹⁹, Heather Gladue²⁰, Chris Derk²¹, Elana Bernstein²², S. Louis Bridges²³, Victoria Shanmugam²⁴, Kathleen Kolstad²⁵, Lorinda Chung²⁶, Suzanne Kafaja²⁷, Reem Jan²⁸, Marcin Trojanowski²⁹, Avram Goldberg³⁰, Benjamin Korman³¹, Monique Hinchcliff³², Settara Chandrasekharappa⁶, Massimo Gadina², Davide Randazzo², Stefania Dell'Orso², Adebowale Adeyemo⁶, Charles Rotimi⁶, Elaine Remmers⁶, Fredrick Wigley³³, Rafael Casellas², Daniel Kastner⁶, Francesco Boin³⁴ and Pravitt Gourh¹, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Beachwood, OH, ⁴Johns Hopkins University School of Medicine, Ellicott City, MD, ⁵University of Texas Houston McGovern Medical School, Division of Rheumatology and Clinical Immunogenetics, Houston, TX, ⁶National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, ⁷National Human Genome Research Institute (NHGRI), NIH, Bethedsa, MD, ⁸University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁹University of Pittsburgh School of Medicine, Verona, PA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Medical University of South Carolina, Charleston, ¹²Division of Rheumatology, Department of Medicine, MedStar Georgetown University Hospital, Washington, DC, ¹³Northwestern University, Chicago, IL, ¹⁴Rutgers-RWJ Medical School, South Plainfield, NJ, ¹⁵Scleroderma Patient Care and Research Center, Tulane University, New Orleans, LA, ¹⁶Michigan Medicine, Ann Arbor, MI, ¹⁷University of Michigan, Ann Arbor, MI, ¹⁸Hospital for Special Surgery, New York, NY, ¹⁹Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA, ²⁰Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²¹University of Pennsylvania, Philadelphia, PA, ²²Columbia University, New York, NY, ²³University of Alabama at Birmingham, Mountain Brk, AL, ²⁴The George Washington University, Washington, DC, ²⁵Division of Immunology & Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ²⁶Stanford University School of Medicine and Palo Alto VA Health Care System, Palo Alto, CA, ²⁷David Geffen School of Medicine, UCLA, Los Angeles, CA, ²⁸Pritzker School of Medicine, University of Chicago, Chicago, IL, ²⁹Boston University Medical Center, BOSTON, MA, ³⁰NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ³¹Department of Medicine, University of Rochester Medical Center, Rochester, NY, ³²Yale School of Medicine, Westport, CT, ³³Johns Hopkins University School of Medicine, Baltimore, MD, ³⁴University of California San Francisco, Cedars-Sinai, West Hollywood, CA
Background/Purpose: Genome-wide association study (GWAS) from the Genome Research in African American Scleroderma Patients (GRASP) cohort has identified the human leukocyte antigen (HLA) region as…
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: 1526 • ACR Convergence 2020
Single Cell Analysis of Skin and Blood of Scleroderma Patients Towards Identification of New Disease Mechanisms, Prognostic Biomarkers and Potential Therapeutic Targets
Chamutal Gur¹, Postil 158626², Hagit Peleg³, Suhail Aamar³, Fadi Kharouf³, Anat Elazary³, Yolanda Braun-Moscovici Braun-Moscovici⁴, Shuang-Yin Wang⁵ and Ido Amit⁵, ¹Hadassah Medical Center, Hebrew University, Laboratory for Immuno-Genomics, Weizmann Institute of Science, Jerusalem, Israel, ²Rambam Health Care Campus, Technion-Israeli Institute of Technology, Kiriat Mozkin, HaZafon, Israel, ³Hadassah Medical Center, Jerusalem, Israel, ⁴Rambam Health Care Campus, Technion-Israeli Institute of Technology, Haifa, Israel, ⁵Laboratory for Immuno-Genomics, Weizmann Institute of Science, Rehovot, Israel
Background/Purpose: Systemic sclerosis (SSc) is characterized by fibrosis, microangiopathy and immune dysregulation. Despite many years of research, the pathogenesis of SSc is poorly understood; there…
Abstract Number: 0707 • ACR Convergence 2020
Contribution of NOTUM and Glypicans to the Development of Osteoarthritis
Arkaitz Mucientes¹, Eva Herranz¹, Pia Lois², Gloria Candelas², Lydia Abasolo¹, Luis Rodriguez-Rodriguez¹, Jose Ramon Lamas¹ and Benjamin Fernandez-Gutierrez³, ¹IdISSC, Madrid, Madrid, Spain, ²Hospital Clínico San Carlos, Madrid, Madrid, Spain, ³Hospital Clínico San Carlos / IdISSC, Madrid, Madrid, Spain
Background/Purpose: Osteoarthritis (OA) is a degenerative disease characterized by altered homeostasis of joint cartilage and bone, the functionality of which relies on chondrocytes and osteoblasts,…
Abstract Number: 1529 • ACR Convergence 2020
Differentially Expressed Chemokines and Cytokines in Peripheral Blood Mononuclear Cells (PBMCs) of Rheumatoid Arthritis (RA) Patients
Noha Elemam¹, Mahmood Hachim², Suad Hannawi³ and Azzam Maghazachi⁴, ¹University of Sharjah, Sharjah, United Arab Emirates, ²Mohammed Bin Rashid University Of Medicine and Health Sciences, Dubai, ³Ministry of Health and Prevention, Dubai, United Arab Emirates, ⁴University of Sharjah, Sharjah
Background/Purpose: Rheumatoid arthritis (RA) is the most prevalent autoimmune disease, where various immune cells are associated such as monocytes, natural killer (NK) cells, B cells,…
Abstract Number: 0764 • ACR Convergence 2020
Uncovering Novel Biomarkers for Rheumatoid Arthritis from Feature Selection and Machine Learning Approaches on Synovium and Blood Gene Expression Data
Dmitry Rychkov¹, Jessica Neely¹ and Marina Sirota¹, ¹UCSF, San Francisco, CA
Background/Purpose: There is an urgent need to develop objective biomarkers for early diagnosis and monitoring of disease activity in Rheumatoid arthritis (RA). Here we define…
Abstract Number: 1611 • ACR Convergence 2020
Documentation of Pregnancy Counseling in SSA-Positive Patients of Childbearing Potential: A Cross-Sectional Study
Heinrich-Karl Greenblatt¹ and Elena Weinstein¹, ¹University of Colorado School of Medicine, Aurora, CO
Background/Purpose: Systemic lupus erythematosus (SLE) and primary Sjogren's Syndrome (SS) are highly associated with anti-SSA (anti-Ro) seropositivity. Anti-SSA autoantibodies may cross the placenta, causing a…
Abstract Number: 0866 • ACR Convergence 2020
Identifying an SLE Patient Cluster with Greater Treatment Effect: Immune Cell Deconvolution of Gene Expression in Two Atacicept Phase II Studies
Joan Merrill¹, Matthew Studham², Eric Morand³, Aida Aydemir², Cristina Vazquez Mateo², Alex Rolfe², Amy Kao² and Robert Townsend², ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²EMD Serono (a business of Merck KGaA, Darmstadt, Germany), Billerica, MA, ³Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia
Background/Purpose: Atacicept, a dual inhibitor of the B lymphocyte stimulator and a proliferation-inducing ligand (APRIL), has been associated with a reduction of flares in the…
Abstract Number: 1670 • ACR Convergence 2020
Low Copy Number of Long C4 Genes Is a Genetic Risk Factor for Childhood Onset SLE (cSLE) but Is Associated with Higher Age of Disease Onset
Fatima Barbar-Smiley¹, Danlei Zhou², Joanne Drew², Bi Zhou², Cagri Yildirim-Toruner², Vidya Sivaraman³, Wael Jarjour⁴, Stacy Ardoin² and Chack-Yung Yu⁵, ¹Nationwide Children's Hospital/The Ohio State University, Columbus, OH, ²Nationwide Children's Hospital, Columbus, OH, ³Nationwide Children's Hospital, Bexley, OH, ⁴The Ohio State University, Columbus, OH, ⁵Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH
Background/Purpose: Hypocomplementemia is a marked feature of systemic lupus erythematosus (SLE), which may be a result of consumption initiated by immune complexes between self-nuclear antigens…
Abstract Number: 0969 • ACR Convergence 2020
Investigating Murine Joint-Draining Lymphatics: Lineage Tracing and Single Cell RNA Sequencing Reveal Evidence That Popliteal Lymphatic Muscle Cells and Their Progenitors Represent Distinct Cell Types Divergent from Striated and Vascular Muscle Cells
H. Mark Kenney¹, Richard Bell², Elysia Masters¹, Lianping Xing¹, Christopher Ritchlin³ and Edward Schwarz¹, ¹University of Rochester Medical Center, Rochester, ²Hospital for Special Surgery, New York, ³Department of Medicine, University of Rochester Medical Center, Rochester, NY
Background/Purpose: Previous studies demonstrated that tumor necrosis factor transgenic (TNF-Tg) mice with inflammatory arthritis have damaged lymphatic muscle cells (LMCs) and eventual loss of popliteal…
Abstract Number: 1850 • ACR Convergence 2020
The Association Between Imaging Sub-phenotypes of Psoriatic Arthritis and Gene Expression Profiles
Lihi Eder¹, Lee Quan², Sara Rahmati³, Iris Eshed⁴, Proton Rahman⁵, Igor Jurisica⁶ and Vinod Chandran⁷, ¹Women’s College Research Institute, University of Toronto, Toronto, ON, Canada, ²University of Toronto, Toronto, Canada, ³University Health Network, Toronto, ON, Canada, ⁴Sheba Medical Center, Tel-Aviv, Israel, ⁵Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ⁶Krembil RI, Toronto, Canada, ⁷Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Heterogeneity is a hallmark of psoriatic arthritis (PsA), which is reflected in diverse clinical, imaging and molecular features, various disease courses and treatment responses.…
Abstract Number: 0971 • ACR Convergence 2020
Single-cell Profiling of Synovial Stromal Cells Reveals an Angiocrine Endothelium in Rheumatoid Arthritis
Kevin Wei¹, Ilya Korsunsky², Jennifer Marshall³, Gerald Watts⁴, Triin Major³, Zhu Zhu⁴, Yuhong Li⁵, Christopher Buckley⁶, Soumya Raychaudhuri⁷ and Michael Brenner¹, ¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Rheumatology Research Group, Institute for Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Queen Elizabeth Hospital, Birmingham, United Kingdom, ⁴Brigam and Women's Hospital, Boston, ⁵Brigham and Women's Hospital, Boston, ⁶University of Birmingham, Birmingham, United Kingdom, ⁷Brigham and Women’s Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Vascular endothelial cells that provide the structure for blood vessels have traditionally been perceived as passive, structural units that provide blood flow. We recently…

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