Abstract Number: 1638 • 2017 ACR/ARHP Annual Meeting
High Genetic Risk Score Is Associated with Increased Organ Damage in SLE
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, autoimmune disease with a complex genetic etiology. Over 80 risk genes for SLE have been identified and…Abstract Number: 1971 • 2017 ACR/ARHP Annual Meeting
Association between Genetic Variants and the Presence of Rheumatoid Arthritis-Related Autoimmunity and Progression to Classified Rheumatoid Arthritis in an at-Risk Population
Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of RA-related autoantibodies prior to the development of clinical disease. While HLA-shared epitope…Abstract Number: 2731 • 2017 ACR/ARHP Annual Meeting
The Utility of Unbiased Metagenomic Next Generation Sequencing in the Management of Patients with CNS Vasculitis
Background/Purpose: In the clinical approach to CNS vasculitis, exclusion of infection is of major concern as some microbes can cause vasculitis, and infections can complicate…Abstract Number: 2827 • 2017 ACR/ARHP Annual Meeting
A Novel Statistical Method to Resolve Cellular Heterogeneity in Disease Tissues: Integrating Transcriptomic Data in Accelerating Medicines Partnership (AMP) – RA Network Phase 1 Data
Background/Purpose: Detecting distinct cellular subsets in disease tissues is key to understanding the pathogenesis of immune diseases, for example in synovial tissues in rheumatoid arthritis…Abstract Number: 2828 • 2017 ACR/ARHP Annual Meeting
A Graph-Theoretic-Approach Applied to Modular-Repertoire-Analysis Identifies Shared Gradual Whole Blood Interferon Signatures in Systemic Lupus Erythematosus and Primary Sjögren’s Syndrome Patients and Reveals New Interferon-Related Modules in Disease Progression
Background/Purpose: There is significant clinical and molecular heterogeneity among patients suffering from systemic autoimmune diseases, such as systemic lupus erythematosus (SLE) and primary Sjögren’s Syndrome…Abstract Number: 2905 • 2017 ACR/ARHP Annual Meeting
TET2 Mutation Is Significantly Associated with the Development of Autoimmune Disorder in Patients with Myelodysplastic Syndrome
Background/Purpose: Myelodysplastic syndrome (MDS) is characterized by ineffective hematopoiesis in bone marrow and peripheral cytopenia. Various genetic mutations contribute to MDS. Common mutations affect genes…Abstract Number: 34 • 2017 Pediatric Rheumatology Symposium
The SLCO1B1 *14 Allele is Associated with Poor Response to Subcutaneous Methotrexate in Patients with Juvenile Idiopathic Arthritis
Background/Purpose: Variants in the SLCO1B1 gene, encoding a hepatic methotrexate (MTX) transporter, affect clearance of high-dose MTX in leukemia patients. We aimed to assess the…Abstract Number: 58 • 2016 ACR/ARHP Annual Meeting
Detecting Novel Candidate Risk Genes in Rheumatoid Arthritis with Gene-Based Association Testing
Background/Purpose: Rheumatoid arthritis (RA) is driven by immune-system dysfunction with contribution from genetic risk factors. Emerging data from genomewide association studies (GWAS) of single nucleotide…Abstract Number: 60 • 2016 ACR/ARHP Annual Meeting
A Single Nucleotide Polymorphism of IL6-Receptor Is Associated with Response to Tocilizumab in Rheumatoid Arthritis: Results from Toci and ROC Studies
Background/Purpose: Biological agents (boDMARDs) have modified the therapeutic management of patients with rheumatoid arthritis (RA). However, boDMARDs can induce sustained remission in only 30% of…Abstract Number: 67 • 2016 ACR/ARHP Annual Meeting
Polymorphisms of ERAP1, IL23R and TRAILR1 Are Associated with MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort
Polymorphisms of ERAP1, IL23R and TRAILR1 are associated With MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort Background/Purpose: Spondyloarthritis (SpA) is a…Abstract Number: 804 • 2016 ACR/ARHP Annual Meeting
Combined-Phenotype Meta-GWAS in Systemic Sclerosis and Rheumatoid Arthritis Identifies IRF4 As a New Common Susceptibility Locus
Background/Purpose: Genome-wide association studies (GWASs) have revolutionized our understanding of the genetic component of complex autoimmune diseases (ADs) by the identification of thousands of susceptibility…Abstract Number: 1821 • 2016 ACR/ARHP Annual Meeting
Demethylated CD4+CD28+KIR+CD11ahi T Cells Are Characterized By a Pro-Inflammatory Transcriptome and Interact with Genetic Risk to Predict Disease Activity in Lupus
Background/Purpose: T cell DNA methylation defects play an important role in the pathogenesis of systemic lupus erythematosus. A CD4+CD28+ T cell subset characterized by overexpression…Abstract Number: 1841 • 2016 ACR/ARHP Annual Meeting
Dysregulation of the Splicing Machinery Components in Leukocytes from Patients with Systemic Lupus Erythematosus: Influence on Autoimmune and Atherothrombotic Mechanisms
Background/Purpose: The aim of this study was to evaluate whether alterations in the splicing-machinery could influence the development and activity of the disease and the…Abstract Number: 2271 • 2016 ACR/ARHP Annual Meeting
Mutation in Osteoprotegerin Gene: Early-Onset Osteoarthritis and Chondrocalcinosis in a US Family of Italian/German Ancestry
Background/Purpose: Chondrocalcinosis is characterized by calcium pyrophosphate dihydrate (CPPD) deposition in articular cartilage. It can occur as a rare autosomal dominant disorder with florid early-onset…Abstract Number: 2415 • 2016 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (secHLH)
Background/Purpose: Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease, particularly of systemic JIA (sJIA). It is currently classified among the secondary forms…
ACR Meeting Abstracts