Abstract Number: 1787 • ACR Convergence 2020
Differences in Chromatin Architecture Between Treatment Naïve Pediatric and Adult Lupus Patients
Background/Purpose: Systemic lupus erythematosus (SLE) is possibly triggered by gene-environment interactions. We showed most of the SLE haplotypes encompass genomic regions enriched for epigenetic marks…Abstract Number: 0027 • ACR Convergence 2020
CYP2D6 Genotype and Reduced Codeine Analgesic Effect in Real-World Clinical Practice
Background/Purpose: Codeine, a widely prescribed analgesic, is an inactive pro-drug that is metabolized to morphine, the active drug, by cytochrome P450 2D6 (CYP2D6), a highly…Abstract Number: 1815 • ACR Convergence 2020
Dynamic Changes in Microbiota Representation of a Gut Pathobiont and Clinical Disease Activity in Patients with Lupus Nephritis
Background/Purpose: From a cross-sectional cohort, we have recently identified a candidate human gut pathobiont, Ruminococcus gnavus (RG) of the Lachnospiraceae family and Blautia genus that…Abstract Number: 0036 • ACR Convergence 2020
Molecular Phenotyping of Late-Stage Knee Osteoarthritis Synovium Through Total RNA-Sequencing
Background/Purpose: Knee Osteoarthritis (OA) is a painful, disabling condition and molecular mechanisms underlying this disease are poorly understood. In recent years, OA is increasingly viewed…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
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: 0072 • ACR Convergence 2020
Characterizing Heterogeneity of Synovial Macrophages in Rheumatoid Arthritis Patients
Background/Purpose: Macrophages in the synovial lining of the joint are critical players in the pathogenesis of rheumatoid arthritis (RA). While they are potent producers of…Abstract Number: 1933 • ACR Convergence 2020
Small Vessel Vasculitis Surrounding a Preserved Temporal Artery: Search for Tissue Biomarkers with Potential Diagnostic Value
Background/Purpose: Systemic vasculitides are complex and heterogeneous diseases with overlapping features that frequently pose a diagnostic challenge to clinicians. The temporal artery biopsy (TAB) is…Abstract Number: 0174 • ACR Convergence 2020
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
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
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
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
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
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)
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
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
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…
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