Abstract Number: 0030 • ACR Convergence 2023
A Pathogenetic Model of IgG4-related Disease Developed from Familial IKZF1 and UBR4 Gene Variants
Background/Purpose: Most autoimmune diseases are polygenic, frequently with more than 100 gene variants contributing to genetic predisposition. Given this complexity, conclusions on disease mechanisms are…Abstract Number: 0723 • ACR Convergence 2023
Investigating the Effects and Molecular Mechanisms of TRAF5 on the Pathogenesis of SLE Associated Pulmonary Arterial Hypertension
Background/Purpose: Pulmonary arterial hypertension (PAH) is a serious complication in SLE patients, with rapid progression and poor prognosis. In China, approximately 3% of the over…Abstract Number: 1148 • ACR Convergence 2023
A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…Abstract Number: 2235 • ACR Convergence 2023
Identifying Differentially Expressed Genes to Predict TNF-Alpha and IL-17A Inhibitor Response in Psoriatic Arthritis
Background/Purpose: Approximately 30 to 40% of patients are primary non-responders, and the response rate declines after each successive biological therapy. The primary aim is to…Abstract Number: 0031 • ACR Convergence 2023
A Systematic Approach for Identifying Causal Variants and Their Target Genes on JIA Risk Haplotypes
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…Abstract Number: 0733 • ACR Convergence 2023
Global Identification of Lupus Genetic Risk Variants Facilitating the Type I Interferon Pathway Through CRISPR-based Genomic Screening
Background/Purpose: Genome-Wide Association Studies (GWAS) have unveiled over 1000 risk variants for lupus, predominantly situated in non-coding genomic regions. Their functional roles, especially their potential…Abstract Number: 1290 • ACR Convergence 2023
Development of a Genetic Risk Score for Pain in Rheumatoid Arthritis
Background/Purpose: Pain in rheumatoid arthritis (RA) is multifactorial and involves processes beyond inflammation such as peripheral and central pain processing. Several genes have been associated…Abstract Number: 2311 • ACR Convergence 2023
Effect on Lupus Outcomes of the Protective Allele at rs1876453 in the Complement Receptor 2 Gene
Background/Purpose: Systemic lupus erythematosus is a heterogenous autoimmune disease characterized by inflammatory damage to multiple organ systems. We have shown that the single-nucleotide polymorphism (SNP)…Abstract Number: 0032 • ACR Convergence 2023
Quantification of the Escape from X Chromosome Inactivation with the Million Cell-scale Human Blood Single-cell RNA-seq Datasets Reveals Heterogeneity of Escape Across Immune Cells and Escape in the Autoimmune Disease Conditions
Background/Purpose: Understanding the differences in the immune system between sexes is important to elucidate the pathogenesis of autoimmune diseases which are more prevalent in females…Abstract Number: 0734 • ACR Convergence 2023
Immune Isoform Atlas: Landscape of Alternative Splicing in Human Immune Cells and Involvement of Dysregulated Alternative Splicing in Autoimmune Diseases
Background/Purpose: Alternative splicing events play a critical role in the immune system1,2 and one of major causal mechanisms for complex traits including immune-mediated diseases (IMDs),…Abstract Number: 1613 • ACR Convergence 2023
Tetrodotoxin Sensitive Nav1.7 Sodium Channel SCN9A Gene Polymorphism rs6754031(T >G) Is Associated with Fibromyalgia
Background/Purpose: SCN9A gene encodes a tetrodotoxin sensitive Nav1.7 Sodium channel expressed in dorsal root ganglia, peripheral nerves, olfactory nerves and inner ear. Rare Mutations in…Abstract Number: 2318 • ACR Convergence 2023
The Association Between Systemic Lupus Erythematosus (SLE) and Bone Mineral Density (BMD) Polygenic Risk Scores with Lumbar Spine BMD Z-score: A Retrospective Cohort Study
Background/Purpose: Childhood-onset systemic lupus erythematosus patients < 18 years (cSLE) are at risk for reduced bone mineral density (BMD) due to disease activity and chronic…Abstract Number: 0035 • ACR Convergence 2023
Using Genotyping and Functional Data from Monocytes to Identify Risk-Driving SNPs on JIA Risk Haplotypes
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…Abstract Number: 0738 • ACR Convergence 2023
A Genome-wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome
Background/Purpose: Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy…Abstract Number: 1671 • ACR Convergence 2023
Use of Metagenomic Microbial Plasma Cell-Free DNA Next-Generation Sequencing Assay in Outpatient Rheumatology Practice
Background/Purpose: Metagenomic next-generation sequencing (mNGS) of microbial cell-free DNA (mcfDNA) allows for non-invasive broad-range pathogen detection from plasma. The Karius test (KT) is a commercially…
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