Abstracts tagged "Bioinformatics"

Abstract Number: 1809 • ACR Convergence 2020
Serum Cytokine Profiling in Systemic Lupus Erythematosus, Analysed Using Unsupervised Machine Learning, Reveals Clinically Relevant Clusters
Fabien Vincent¹, Jannina Ong¹, Alberta Hoi², Sarah Boyd¹, Hieu Nim¹ and Eric Morand³, ¹Monash University, Clayton, Victoria, Australia, ²Monash University, Melbourne, Victoria, Australia, ³Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia
Background/Purpose: SLE is a heterogeneous disease, where a better understanding of molecular differences between patients is needed in order to direct therapy. Existing approaches generally…
Abstract Number: 0426 • ACR Convergence 2020
T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)
Emily Rominger¹, Sufia Bakshi², Emily Rose³, Marcela Ferrada³, Peter C. Grayson⁴, Robert Colbert⁵ and Keith Sikora⁶, ¹Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ⁵Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…
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: 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: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
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…

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