Abstracts tagged "Bioinformatics"

Abstract Number: 0973 • ACR Convergence 2021
Modeling of Clinical Phenotypes in SLE Based on Platelet Transcriptomic Analysis and FCGR2a Biallelic Variants
MacIntosh Cornwell¹, Hanane EL Bannoudi², Elliot Luttrell-Williams¹, Khrystyna Myndzar¹, Alexis Engel³, Peter Izmirly⁴, H. Michael Belmont⁵, Robert Clancy⁶, Jeffrey Berger¹, Kelly Ruggles¹ and Jill Buyon⁶, ¹New York University, New York, NY, ²NYU Langone Health, New York, NY, ³NYU Langone Health, New Yok, NY, ⁴New York University School of Medicine, New York, NY, ⁵NYU School of Medicine, New York, NY, ⁶NYU Grossman School of Medicine, New York, NY
Background/Purpose: The clinical heterogeneity of SLE with its complex pathogenesis remains challenging as we strive to provide optimal management. The contribution of platelets to endovascular…
Abstract Number: 1011 • ACR Convergence 2021
Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization
Adriana Almeida de Jesus¹, Bin Lin², Eric Karlins³, Dana Kahle⁴, Andre Rastegar², Jacob Mitchell², Sofia Torreggiani², Farzana Bhuyan², Sara Alehashemi⁵, Kader Cetin Gedik⁶, Kat Uss², Chyi-Chia Lee⁷, Hyesun Kuehn⁸, Sergio Rosenzweig⁸, Katherine Calvo⁸, Magdalena Walkiewicz⁹, Justin Lack¹⁰, Eric Hanson¹¹, Amer Khojah¹², Eveline Wu¹³, Christiaan Scott¹⁴, Timothy Ronan Leahy¹⁵, Emma MacDermott¹⁵, Orla Kileen¹⁵, Thaschawee Arkachaisri¹⁶, Zoran Gucev¹⁷, Kathryn Cook¹⁸, Vafa Mammadova¹⁹, Gulnara Nasrullayeva¹⁹, Scott Canna²⁰, Douglas Kuhns²¹, Clifton Dalgard²², Timothy Moran²³, Andrew Oler³ and Raphaela Goldbach-Mansky²⁴, ¹TADS/NIAID/NIH, Silver Spring, MD, ²TADS/NIAID/NIH, Bethesda, MD, ³BCBB/NIAID/NIH, Bethesda, MD, ⁴National Institutes of Health, Chevy Chase, MD, ⁵TADS/NIAID/NIH, Clarksville, MD, ⁶Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁷NCI/NIH, Bethesda, MD, ⁸CC/DLM/NIH, Bethesda, MD, ⁹CSI/NIAID/NIH, Bethesda, MD, ¹⁰NCBR/NIAID/NIH, Bethesda, MD, ¹¹Indiana University School of Medicine, Indianapolis, IN, ¹²Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹³UNC Chapel Hill, Chapel Hill, NC, ¹⁴Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, ¹⁵Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁸Akron Childrens Hospital, Copley, OH, ¹⁹Azerbaijan Medical University, Baku, Azerbaijan, ²⁰Children's Hospital of Philadelphia, Philadelphia, PA, ²¹Frederick National Laboratory for Cancer Research/NIH, Frederick, MD, ²²TAGC/USUHS, Bethesda, MD, ²³University of North Carolina School of Medicine, Chapel Hill, NC, ²⁴NIH/NIAID, Potomac, MD
Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…
Abstract Number: 1384 • ACR Convergence 2021
A Genomic Meta-Analysis of Clinical Variables and Association with Intrinsic Molecular Subsets in Systemic Sclerosis
Jennifer Franks¹, Diana Toledo¹, Viktor Martyanov¹, Yue Wang², Suiyuan Huang³, Tammara Wood¹, Cathie Spino³, Robyn Domsic⁴, Monique Hinchcliff⁵, Dinesh Khanna³ and Michael Whitfield⁶, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, West Lebanon, NH, ³University of Michigan, Ann Arbor, MI, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Yale School of Medicine, Westport, CT, ⁶Geisel School of Medicine, Lebanon, NH
Background/Purpose: Four intrinsic molecular subsets (Inflammatory, Fibroproliferative, Limited, Normal-like) have been identified in systemic sclerosis (SSc) that may have different clinical associations. To test this…
Abstract Number: 1480 • ACR Convergence 2021
LncRNA XIST Alters the Balance of Peripheral Blood Immune Cells in Systemic Lupus Erythematosus by Regulating the miR-17-92/OFLM4 and CEACAM8 Axis
Qi Cheng, Mo Chen, xin Chen, peiyu zhang, huaxiang wu and yan du, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China (People's Republic)
Background/Purpose: X-inactive-specific transcript (XIST) has been shown to silence linked genes on the X chromosome that may be related to the pathogenesis of systemic lupus…
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: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
Abstract Number: 0500 • ACR Convergence 2020
Genomic, Phenomic, Proteomic Predictors of Psoriatic Arthritis
Jessica Walsh¹, Sophie Belman², Courtney Carroll², Michael Milliken², Benjamin Haaland², Kristina Callis Duffin², Gerald Krueger² and Bing-jian Feng², ¹University of Utah School of Medicine, George E. Wahlen Veteran Affairs Medical Center, Salt Lake City, UT, ²University of Utah, Salt Lake City, UT
Background/Purpose: Delays in diagnosis of psoriatic arthritis (PsA) are common and impair quality of life and function. The study objective was to identify phenotypes, genetic…
Abstract Number: 1989 • ACR Convergence 2020
NXP2 Autoantibodies Link to Interferon Signature in Juvenile Myositis Lesional Skin
Jessica Turnier¹, Lauren Pachman², Lori Lowe³, Alex Tsoi³, Sultan Elhaj¹, Rajasree Menon¹, Maria Amoruso², Gabrielle Morgan⁴, Johann Gudjonsson⁵, Celine Berthier³ and J Michelle Kahlenberg¹, ¹University of Michigan, Ann Arbor, MI, ²Northwestern University Feinberg School of Medicine, Chicago, IL, ³University of Michigan, Ann Arbor, ⁴Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵University of Michigan, Ann ArborUniversity of Michigan
Background/Purpose: Skin inflammation can herald systemic disease in juvenile myositis (JM), yet we lack an understanding of pathogenic mechanisms driving skin inflammation in JM. The…
Abstract Number: 0502 • ACR Convergence 2020
Integration of Clinical and Protein Markers Through Machine Learning to Distinguish Patients with Psoriasis Arthritis from Those with Psoriasis Without Psoriatic Arthritis
Sara Rahmati¹, Fatima Abji¹, Proton Rahman² and Vinod Chandran³, ¹University Health Network, Toronto, ON, Canada, ²Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Psoriatic Arthritis (PsA) is a progressive inflammatory arthritis that occurs in about 24% of psoriasis patients. Early diagnosis of PsA is associated with better…
Abstract Number: 0752 • ACR Convergence 2020
Serum Proteomics Implicates Neutrophil Degranulation in Rheumatoid Arthritis Disease Activity
Liam O'Neil¹, Vidyanand Anaparti¹, Dana Wiens¹, Irene Smolik¹, Xiaobo Meng¹ and Hani El-Gabalawy¹, ¹University of Manitoba, Winnipeg, MB, Canada
Background/Purpose: Though targeted therapeutics have improved outcomes in Rheumatoid Arthritis (RA) treatment, the understanding of the underlying biological mechanisms that mediate inflammatory arthritis in RA…
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: 0774 • ACR Convergence 2020
Nr4a1-high Arthritogenic T Cells from SKG Mice Are Associated with Markers of Recent and Chronic Antigen-stimulation and an Altered T Cell Receptor Repertoire
Judith Ashouri-Sinha¹, Elizabeth McCarthy¹, Steven Yu², Chun Jimmie Ye¹ and Arthur Weiss¹, ¹UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, San Francisco, CA, ²UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, San Francsico, CA
Background/Purpose: T cells can either be activated through their T cell receptor (TCR) in an antigen-specific manner, or in response to cytokines. Identification of antigen-reactive…
Abstract Number: 0779 • ACR Convergence 2020
Antibody Responses to Epstein-Barr Virus Are Altered in the Pre-Clinical Period of Rheumatoid Arthritis
Sabrina Fechtner¹, Heather Berens², Elizabeth Bemis³, M Kristen Demoruelle², Carla J. Guthridge⁴, John Harley⁵, Judith James⁶, Jess Edison⁷, Kevin D. Deane⁸, Jill Norris⁹ and V. Michael Holers², ¹University of Colorado, Aurora, CO, ²University of Colorado, Denver, CO, ³Colorado School of Public Health Anschutz Medical Campus, Aurora, CO, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, ⁶Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁷Walter Reed National Military Medical Center, Bethesda, ⁸2 Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁹Colorado School of Public Health, Aurora, CO
Background/Purpose: Viral infections, including infection with Epstein-Barr virus (EBV), have been suggested as environmental risk factors for rheumatoid arthritis (RA). EBV infections are known to…
Abstract Number: 0786 • ACR Convergence 2020
A Combination of Dimensionality Reduction Techniques Reveals Novel HLA-DR+ ‘Candidate’ Antigen-Presenting Cell Subsets (cAPC) in Patients with Rheumatoid Arthritis (RA)
Christian Geier¹, Jon Giles¹, Samantha Gaines², Christopher Depender¹, Joan Bathon¹ and Robert Winchester¹, ¹Division of Rheumatology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, ²Division of Rheumatology, Columbia University Vagelos College of Physicians and Surgeons, New York
Background/Purpose: The presentation of MHC-peptide complexes to T lymphocytes via antigen-presenting cells (APC) is a crucial step in the initiation of immune responses. Dendritic cells…
Abstract Number: 0030 • ACR Convergence 2020
Distinct DNA Methylation Patterns of Rheumatoid Arthritis Peripheral Blood and Synovial Tissue T Cells
Rizi Ai¹, Gary Firestein², David Boyle³ and Wei Wang⁴, ¹University of California San Diego, San Diego, CA, ²University of California, San Diego, La Jolla, CA, ³UCSD, La Jolla, CA, ⁴UCSD, La Jolla
Background/Purpose: To understand the epigenetic patterns of T cells accumulated in rheumatoid arthritis (RA) synovium, we characterized DNA methylation of CD3+ T cells in peripheral…

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