Abstract Number: 2341 • 2017 ACR/ARHP Annual Meeting
The Interaction between Genetic Risk Factors and Age of Disease Onset in Juvenile Dermatomyositis
Background/Purpose: Juvenile dermatomyositis (JDM) is a rare, severe autoimmune disease characterized by muscle weakness and rash. Clinical features of JDM are heterogeneous, and can include…Abstract Number: 164 • 2017 ACR/ARHP Annual Meeting
Association of Natural Killer Cell Ligand Polymorphism, HLA-C Asn80Lys, with the Development of Anti-SSA/Ro Associated Congenital Heart Block
Background/Purpose: Fetal exposure to maternal anti-SSA/Ro antibodies is necessary but insufficient for the development of congenital heart block (CHB), suggesting the potential of a fetal…Abstract Number: 2825 • 2017 ACR/ARHP Annual Meeting
A Possible Environmental Origin for a Proportion of the Genetic Risk of Rheumatoid Arthritis and Systemic Lupus Erythematosus
Background/Purpose: Nearly 150 genetic loci are convincingly associated with lupus (SLE) or rheumatoid arthritis (RA) and underlie their incompletely understood mechanisms of pathogenesis. Since 90%…Abstract Number: 172 • 2017 ACR/ARHP Annual Meeting
Optimizing Precision Medicine By Using Genetics to Assign Diagnostic Prior Probabilities to Patients with Synovitis
Background/Purpose: As the cost of genome-wide genotyping plummets, and biobanking efforts integrating medical records and genetics are rapidly expanding, many patients will have genotyping available…Abstract Number: 2937 • 2017 ACR/ARHP Annual Meeting
Genetic Variants in HLA-C and Class I Pathway Genes Influence Susceptibility to Kawasaki Disease
Background/Purpose: Host genetics influence susceptibility to Kawasaki disease (KD), an acute pediatric vasculitis, and genome wide association studies (GWAS) have detected variants with modest effects…Abstract Number: 68 • 2017 Pediatric Rheumatology Symposium
HLA-DRB1 in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior Uveitis
Background/Purpose: HLA-DRB1*08, 11 and 13 are strong risk alleles for various juvenile idiopathic arthritis (JIA) subtypes. We reported that carriage of DRB1*11 and *13 increased…Abstract Number: 1559 • 2016 ACR/ARHP Annual Meeting
Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: A Genetic Association Study
Background/Purpose: Interstitial lung disease (ILD) is one of the leading causes of mortality for rheumatoid arthritis (RA) patients. Despite its high prevalence and mortality, little…Abstract Number: 1573 • 2016 ACR/ARHP Annual Meeting
Major Histocompatibility Antigen HLA-DQ6.1 (DQA1*0103/DQB1*0601) Increases Rheumatoid Arthritis Risk Independent of Shared Epitope Among Indians
Background/Purpose: The association of HLA-DRB1 shared epitope (SE) with rheumatoid arthritis (RA) does not completely explain MHC association. The HLA-DRB1 alleles are classified into high…Abstract Number: 2032 • 2016 ACR/ARHP Annual Meeting
Genome-Wide Association Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease, affecting approximately 1 in 1,000 children. JIA is a complex genetic trait and…Abstract Number: 2033 • 2016 ACR/ARHP Annual Meeting
A Multi-Dimensional Genomic Map for Polyarticular Juvenile Idiopathic Arthritis
Background/Purpose: Polyarticular juvenile idiopathic arthritis (JIA) is a complex trait characterized by gene-environment interactions. While we are beginning to identify multiple genomic regions associated with…Abstract Number: 2035 • 2016 ACR/ARHP Annual Meeting
Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis
Background/Purpose: Despite the progress in human leukocyte antigen (HLA) causal variant mapping, independent localization of major histocompatibility complex (MHC) risk from classical HLA genes is…Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting
Genome-Wide Association Study of Gout in New Zealand Polynesian People
Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…Abstract Number: 2276 • 2016 ACR/ARHP Annual Meeting
Pleiotropic Effect of ABCG2 in Gout
Background/Purpose: The ABCG2 Q141K (rs2231142) variant is an established cause of hyperuricaemia in Europeans. Although the effect size of ABCG2 rs2231142 on serum urate levels…Abstract Number: 2277 • 2016 ACR/ARHP Annual Meeting
Exon Sequencing Reveals a Significant Burden of Non-Synonymous Variants in Both SLC22A11 (OAT4) and SLC22A12 (URAT1) in European Hyperuricemic Individuals
Background/Purpose: Common variants within the uric acid transporter genes SLC22A11 (OAT4) and SLC22A12 (URAT1) have been associated with hyperuricaemia and gout in multiple populations, but…Abstract Number: 2420 • 2016 ACR/ARHP Annual Meeting
Investigating Genome-Wide Inbreeding Coefficients and Age of Diagnosis in a Multi-Ethnic Population of Childhood-Onset Systemic Lupus Erythematosus (cSLE)
Background/Purpose: Genetics plays an important role in the pathogenesis of systemic lupus erythematosus (SLE). Up to 20% of those affected with SLE are diagnosed in…
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