Abstract Number: 1954 • ACR Convergence 2020
Genome-wide Association Study of Sjögren’s Syndrome Identifies Ten New Risk Loci
Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with exocrine gland dysfunction leading to substantial morbidity, and 10 published genetic susceptibility loci. Our genome-wide…Abstract Number: 0288 • ACR Convergence 2020
Targeted Sequencing Revealed Novel Candidate Genetic Contributions to Lupus Nephritis in a Cohort of Swedish Patients with Systemic Lupus Erythematosus
Background/Purpose: Lupus nephritis (LN) is a common debilitating manifestation of Systemic Lupus Erythematosus (SLE). Despite improved understanding of underlying mechanisms driving to LN and early…Abstract Number: 1164 • ACR Convergence 2020
Frequency of Genetic Diagnosis in an Autoinflammatory Disease Natural History Protocol Cohort of Patients
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by innate immune dysregulation resulting in systemic inflammation and variable organ-specific clinical manifestations. The Translational Autoinflammatory Disease Section…Abstract Number: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…Abstract Number: 0295 • ACR Convergence 2020
CCL3L3–null Status May Predispose to Systemic Lupus Erythematosus and Non-scarring Alopecia
Background/Purpose: The correlation between the copy number variation of CCL3L1 and susceptibility to systemic lupus erythematosus (SLE), rheumatoid arthritis, Kawasaki disease, and HIV infection has…Abstract Number: 1166 • ACR Convergence 2020
Use of Rituximab to Treat COPA Syndrome: A Multi-Institutional Cohort
Background/Purpose: Coatomer protein complex subunit α (COPA) syndrome is a rare genetic multisystem autoimmune disorder inherited in an autosomal dominant manner. Onset typically occurs in…Abstract Number: 1956 • ACR Convergence 2020
Dysregulated Expression of the Long Non-coding RNA, LINC01871, Implicated in Sjögren’s Syndrome Pathogenesis
Background/Purpose: Sjögren’s syndrome (SS) is an autoimmune disease characterized by inflammatory destruction of the exocrine glands. Long non-coding RNAs (lncRNAs) are a functionally diverse class…Abstract Number: 0298 • ACR Convergence 2020
Local Genetic Ancestry Associations with Clinical Features of Systemic Lupus Erythematosus
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations which are known to vary in severity by race. Health disparities in…Abstract Number: 1194 • ACR Convergence 2020
MUC5B Promoter Variant rs35705950 and Risk Stratification for Rheumatoid Arthritis – Interstitial Lung Disease
Background/Purpose: Interstitial lung disease (ILD) is an extra-articular manifestation of rheumatoid arthritis (RA) detected in 20 to 60% of patients with RA on high-resolution computed-tomography…Abstract Number: 0299 • ACR Convergence 2020
The Minor Protective Allele at rs1876453 Is Associated with Increased Age of Onset of Systemic Lupus Erythematosus
Background/Purpose: Systemic lupus erythematosus (SLE) is a clinically heterogenous autoimmune disease characterized by autoantibody- and complement-mediated inflammatory damage to multiple organ systems. We previously showed…Abstract Number: 1195 • ACR Convergence 2020
MUC5B rs35705950 and Rheumatoid Arthritis Associated Interstitial Lung Disease Progression
Background/Purpose: Rheumatoid arthritis (RA) associated interstitial lung disease (ILD) and idiopathic pulmonary fibrosis (IPF) sharephenotypic and genotypic similarities. Recently, in a large international genetic association…Abstract Number: 0301 • ACR Convergence 2020
Genetic Associations and Polygenic Risk Assessment in Incomplete Lupus Erythematosus
Background/Purpose: Patients with incomplete lupus erythematosus (ILE) have features of lupus, but have insufficient criteria for SLE classification. Some ILE patients transition to classified SLE,…Abstract Number: 1305 • ACR Convergence 2020
Is the Occurrence of Acute Anterior Uveitis Linked Primarily to Ankylosing Spondylitis (AS) or to HLA-B27? Results of a 35-Year Follow-Up Family Study of a Swiss Cohort of Patients with AS
Background/Purpose: Approximately 30% of HLA-B27(+) patients with ankylosing spondylitis (AS) have one or more episodes of acute anterior uveitis (AAU), a condition that is also…Abstract Number: 0372 • ACR Convergence 2020
Tumor Necrosis Factor-α Receptor 2 Polymorphisms and Response to TNF Inhibitor Therapy in Patients with Psoriatic Arthritis
Background/Purpose: Tumor necrosis factor inhibitors (TNFi) have significantly improved the prognosis of patients with psoriatic arthritis (PsA); however, approximately 40% of patients do not achieve…Abstract Number: 1667 • ACR Convergence 2020
Development of Autoimmune Diseases and HLA Associations in Children with Neonatal Lupus and Their Unaffected Siblings
Background/Purpose: Neonatal Lupus (NL) is a model of passively acquired autoimmunity conferred by exposure to maternal anti-Ro antibodies with major manifestations being congenital heart block…
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