Abstract Number: 1822 • ACR Convergence 2024
Analysis of Differential Activation of Lysophosphatidic Acid Regulated Genes in Diffuse and Limited Cutaneous Systemic Sclerosis
Background/Purpose: Lysophosphatidic Acid (LPA) is a lipid mediator implicated in the pathogenesis of SSc and idiopathic pulmonary fibrosis. Phase 2 clinical trials targeting this biological…Abstract Number: 0063 • ACR Convergence 2024
Splicing into Action:Investigating the Role of Alternative Splicing in Rheumatoid Arthritis Neutrophils
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by a variable response to therapies, reflecting its complex and incompletely understood pathogenesis. Emerging research suggests…Abstract Number: 0911 • ACR Convergence 2024
Activating B Cells Facilitates the Discovery of Latent Disease-associated Variants
Background/Purpose: Although millions of disease-associated variants have been discovered using GWAS, most of these occur in non-coding regions and their mechanistic link to disease is…Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…Abstract Number: 0479 • ACR Convergence 2024
Constructing and Using a Novel Nucleotide Transformer for Patients with Rheumatoid Arthritis
Background/Purpose: Applying the methods of artificial intelligence (AI) to genomic data for clinical outcome prediction in rheumatoid arthritis (RA) is an area of growing research.…Abstract Number: 0913 • ACR Convergence 2024
The Association Between PTPN2 and Leukopenia in New Users of Azathioprine
Background/Purpose: Leukopenia is a common dose-dependent side effect of azathioprine and often results in discontinuation of the drug. Variants in TPMT and NUDT15 have been…Abstract Number: 1829 • ACR Convergence 2024
Genomic Analysis of Skin Biopsies Differentiates Major Anti-Nuclear Autoantibody Subsets in Limited Cutaneous Systemic Sclerosis
Background/Purpose: Systemic sclerosis (SSc) displays significant heterogeneity. Those with limited cutaneous systemic sclerosis (lcSSc) experience significant systemic organ involvement similar to those with diffuse cutaneous…Abstract Number: 0521 • ACR Convergence 2024
Transcriptome Analysis of Drug Response in a Large Cohort of Immune-Mediated Inflammatory Disease Patients Supports Advanced Combination Therapy in Rheumatoid Arthritis
Background/Purpose: Targeted therapies have failed to provide sustained disease remission in most patients suffering from immune-mediated inflammatory diseases (IMIDs). Combining existing drugs could overcome this…Abstract Number: 0914 • ACR Convergence 2024
RAB19 and Azathioprine-Associated Pancreatic Injury in Patients Taking Azathioprine
Background/Purpose: Pancreatitis is a rare, but potentially life-threatening adverse event associated with the use of azathioprine. Prior studies have found an association between the HLA…Abstract Number: 1855 • ACR Convergence 2024
Identification of Autoreactive Cytotoxic T Cells in ANCA-Associated Vasculitis
Background/Purpose: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare and severe autoimmune disease, characterized by a pauci-immune necrotizing vasculitis leading to inflammation and damage…Abstract Number: 0618 • ACR Convergence 2024
Comparison of Cell Type-Specific Polygenic Risk in Systemic Lupus Erythematosus Patient and Healthy Controls
Background/Purpose: Polygenic risk scores quantify the composite impact of numerous genetic variants to predict disease risk. However, conventional polygenic risk scores have limitations in revealing…Abstract Number: 0956 • ACR Convergence 2024
Secreted Frizzled-Related Protein 2 (sFRP2) Regulates Wnt Signaling to Affect Mesenchymal Transition of Lung Epithelial Cells Participates in Interstitial Lung Disease
Background/Purpose: Investigation of Transcriptional Changes in Interstitial Lung Disease (ILD) and Exploration of Functional Effects of Differential Genes and Expressed Proteins in the Development of…Abstract Number: 1857 • ACR Convergence 2024
Thymic Mimetic Cells in Humans, Mice and Fish Are Evolutionarily Ancient with Species-specific Adaptations
Background/Purpose: Thymic mimetic cells are molecular hybrids between medullary thymic epithelial cells (mTECs) and diverse peripheral cell types. They are involved in eliminating autoreactive T…Abstract Number: 0628 • ACR Convergence 2024
Genetic Determinants of Childhood Onset Systemic Lupus Erythematosus
Background/Purpose: Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease with significant morbidity and mortality. Genome-wide association studies have identified more than 100 variants…Abstract Number: 0958 • ACR Convergence 2024
TCR Motifs Identify Unique Clones in African Americans with Systemic Sclerosis
Background/Purpose: Systemic sclerosis (SSc) is a rare multisystem autoimmune disease that disproportionately affects African Americans (AA). Previous work from our lab has suggested a pivotal…
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