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: 0079 • ACR Convergence 2023
CD4 T Cell Repertoire Features in RA Patients with High-risk HLA-DRB1 Alleles
Background/Purpose: A role for CD4 T cells in RA pathology is supported by the effectiveness of T cell therapies, genetic studies implicating T cell gene…Abstract Number: 0772 • ACR Convergence 2023
MUC5B Promoter Variant and Survival in Rheumatoid Arthritis-Associated Interstitial Lung Disease
Background/Purpose: The gain of function MUC5B rs35705950 promoter variant is the strongest genetic risk factor for the development of RA-ILD (specific to a usual interstitial…Abstract Number: 1710 • ACR Convergence 2023
Genetic Associations in Juvenile Idiopathic Arthritis Determined with an Electronic Health Record Based Approach
Background/Purpose: Juvenile idiopathic arthritis (JIA) encompasses multiple forms of pediatric autoimmune arthritis. Research studies in JIA are complicated by disease heterogeneity and difficulties gathering large…Abstract Number: 2450 • ACR Convergence 2023
Gene by Respiratory Disease Interactions Associated with Developing Rheumatoid Arthritis
Background/Purpose: Cigarette smoking, textile dust, and occupational inhalants all strongly interact with the Human Leukocyte Antigen (HLA) shared epitope for risk of seropositive RA. Recently,…Abstract Number: 0130 • ACR Convergence 2023
Association of HLA-DRB1 Alleles with Coronary Artery Calcium, Abdominal Aortic Calcium, and Carotid Intima-media Thickness in a Multi-ethnic Community-living Population
Background/Purpose: Human leukocyte antigen (HLA) DRB1 alleles with specific common amino acids referred to as the shared epitope (SE) have been linked to endothelial dysfunction…Abstract Number: 0816 • ACR Convergence 2023
Additive Association of ABCG2 rs4148155 and SLC22A12 rs75786299 Polymorphisms with Hyperuricemia, Gout and Nephrolithiasis, a Hospital-Based, Case-Control Study
Background/Purpose: This study aimed to investigate the interaction between the ABCG2 rs4148155 and SLC22A12 rs75786299 variants and their association with incident gout and nephrolithiasis in…Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…Abstract Number: 2504 • ACR Convergence 2023
The Effect of Inflammatory Conditions on the Regulation of Canonical and Non-canonical NF-kB Pathways via Bcl11b
Background/Purpose: Bcl11b, a zinc finger bi-functional transcription factor, is highly expressed in various tissues during development and differentiation, including stromal cells. It has been shown…Abstract Number: 0166 • ACR Convergence 2023
Annual Economic Burden for Patients with Familial Hypophosphatemia in the United States
Background/Purpose: Familial hypophosphatemia (FH) is most commonly due to phosphate regulating endopeptidase X-linked (PHEX) gene mutations resulting in renal phosphate wasting, which leads to rickets,…Abstract Number: 0917 • ACR Convergence 2023
Role of Immunoglobulin Polygenic Risk in Systemic Lupus Erythematosus
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease partly characterized by production of autoantibodies, causing inflammation and tissue damage. In this study…Abstract Number: 1783 • ACR Convergence 2023
Integrative Functional Genomics Points to Natural Killer Cells as Key Drivers in the Pathogenesis of Ankylosing Spondylitis
Background/Purpose: Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not…Abstract Number: 2600 • ACR Convergence 2023
Clonal Hematopoiesis Is Associated with Giant Cell Arteritis
Background/Purpose: Giant cell arteritis (GCA) is an age-related vasculitis of large and medium vessels. Prior population studies have identified an association between GCA and hematologic…
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