Abstract Number: 0902 • ACR Convergence 2024
Novel Role of TYK2mechanism in SLE Pathogenesis via T Cell and B Cell Pathways
Background/Purpose: SLE is a complex disease in need of novel therapies. Previously reported genome-wide association studies (GWAS) have identified a strong association between SLE and…Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…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: 0027 • ACR Convergence 2023
Association of HLA-DRB1 and ANKRD55/IL6ST Regions with Polymyalgia Rheumatica Diagnosis: A Genome Wide Association Study from UK Biobank and FinnGen
Background/Purpose: The existing literature on the genetics of polymyalgia rheumatica (PMR) is limited to candidate gene studies with small sample sizes. There is a need…Abstract Number: 0034 • ACR Convergence 2023
Genome-Wide Association Study for Loci Associated with Positive Antinuclear Antibodies in a Large Hospital Biobank
Background/Purpose: Antinuclear antibodies (ANA) to intranuclear particles are found in the blood of people with and without autoimmune diseases. To our knowledge, only 1 past…Abstract Number: 0560 • ACR Convergence 2023
Genetic Determinants of Lupus Nephritis and Kidney Function in Systemic Lupus Erythematosus
Background/Purpose: Lupus nephritis (LN) is one of the most common and severe manifestation of SLE. Risk factors for lupus nephritis and renal function decline are…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: 0788 • ACR Convergence 2023
Whole Exome Sequencing and Evolutionary Action Missense Mutation Analysis Identifies MICB as a New SSc Susceptibility Locus and the Interferon Pathway as Contributors to SSc Pathogenesis
Background/Purpose: Systemic Sclerosis (SSc) is characterized by fibrosis of the skin and internal organs associated with vasculopathy and autoantibodies and exhibiting wide clinical heterogeneity. Contributors…Abstract Number: 0930 • ACR Convergence 2023
Genetic Risk Profiles of Patients with Lupus Nephritis to Identify Those at Risk for Kidney Deterioration and Eventual Damage
Background/Purpose: Many genetic variants are associated with lupus nephritis (LN). Yet, the majority of associated variants have a small effect size; hence, they convey small…Abstract Number: 0958 • ACR Convergence 2023
Shared Genetic Susceptibility Between Systemic Sclerosis and Primary Biliary Cholangitis: Analyses from Genome-Wide Association Studies
Background/Purpose: Systemic sclerosis (SSc) is a multi-system autoimmune disorder characterized by organ inflammation, fibrosis, and vasculopathy. Primary biliary cholangitis (PBC) is an autoimmune disorder involving…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: 1833 • ACR Convergence 2023
Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores
Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…Abstract Number: 1379 • ACR Convergence 2022
Association of HLA Alleles with Specific Auto-antibodies in an Ancestrally Diverse Population of Childhood Systemic Lupus Erythematosus (SLE)
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease capable of affecting multiple organ systems. Genetic variants in the Human Leukocyte Antigen (HLA) are associated…Abstract Number: 1678 • ACR Convergence 2022
A Genome-Wide Association Analysis of 2,622,830 Individuals Reveals New Pathogenic Pathways in Gout
Background/Purpose: Genome-wide association studies (GWAS) in gout have been relatively small (≤13,179 people with gout) and have provided little insight into the progression from hyperuricemia…Abstract Number: 0336 • ACR Convergence 2022
Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record
Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…
ACR Meeting Abstracts