Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…Abstract Number: L02 • ACR Convergence 2023
Mutational Analysis of UNC93B1 Identifies Regulatory Regions Mutated in Human SLE
Background/Purpose: Endosomal nucleic acid-sensing toll-like receptors 3, 7 and 9 are key innate immune sensors of dsRNA, ssRNA and ssDNA, respectively, whose activities must be…Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…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…Abstract Number: 2368 • ACR Convergence 2023
Is Skin Disease a Local Manifestation of Systemic Tissue Turnover? Serological Collagen Biomarkers Provide Important Information on Skin Diseases Arising from Mutations in Collagen Genes
Background/Purpose: Collagens are the main constituents of the skin. Genetic mutations in type VI, VII, and XVII collagen cause skin diseases, such as atopic dermatitis,…
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