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: 017 • 2020 Pediatric Rheumatology Symposium
MyD88 S209R-Mediated Immune Dysregulation in Mouse Models of Arthritis
Background/Purpose: MYD88 is a critical adaptor protein that connects Toll-like and IL-1 receptor signaling to activation of NF-kB. We previously reported a heterozygous de novo mutation in MYD88 (S222R)…Abstract Number: 019 • 2020 Pediatric Rheumatology Symposium
Characterization of DOCK8 as a Novel Gene Associated with Cytokine Storm Syndrome
Background/Purpose: Cytokine storm syndromes (CSS), such as macrophage activation syndrome (MAS) and secondary hemophagocytic lymphohistiocytosis (HLH), are life threatening conditions that commonly present with unremitting…Abstract Number: 031 • 2020 Pediatric Rheumatology Symposium
Exome Sequencing for Early Pediatric Systemic Lupus Erythematosus: Standard of Care in 2020?
Background/Purpose: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with multifactorial etiology. Identification of monogenic causes of pediatric SLE (pSLE) has yielded important insights…Abstract Number: 158 • 2020 Pediatric Rheumatology Symposium
Genetics of Age at Diagnosis in Childhood-Onset Systemic Lupus Erythematosus
Background/Purpose: The genetic contribution to the development of systemic lupus erythematosus (SLE) is estimated to be 66% in twin studies. Genome wide association studies (GWAS)…Abstract Number: 164 • 2020 Pediatric Rheumatology Symposium
The Juvenile Idiopathic Arthritis-Associated IL2RA and IL6R Haplotypes Contain Enhancers Whose Functions Are Altered by JIA-Associated Genetic Variants
Background/Purpose: The JIA risk haplotypes, like those of other autoimmune diseases, are highly enriched for H3K4me1/H3K27ac histone marks, epigenetic features typically associated with functional enhancers.…Abstract Number: 165 • 2020 Pediatric Rheumatology Symposium
A Massively Parallel Reporter Assay Screen of Genetic Variants on JIA Haplotypes Reveals Variants Associated with Altered Function of an Intergenic Enhancer in the HLA Class II Locus
Background/Purpose: While genome-wide association studies have provided valuable information about genetic risk for juvenile idiopathic arthritis (JIA), we are still unable to determine the actual…Abstract Number: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…Abstract Number: 1933 • 2019 ACR/ARP Annual Meeting
Tumorigenesis Related Gene Identification in Dermatomyositis Using Meta-Analysis
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease-causing inflammatory changes in the skin and skeletal muscles. DM is associated with carcinomas of the ovary,…Abstract Number: 1934 • 2019 ACR/ARP Annual Meeting
Tripartite Motif (TRIM) Gene Family Expression in Dermatomyositis
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease causing inflammatory changes to the skin and skeletal muscles. TRIM family proteins are composed of approximately…
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