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: 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…Abstract Number: 1935 • 2019 ACR/ARP Annual Meeting
Multi-Organ System Meta-Analytic Approach to Investigating Sarcoidosis
Background/Purpose: Sarcoidosis (SD) is a granulomatous inflammatory disease with a heterogenous presentation and no definite etiology. SD usually begins in the lungs, skin, or lymph…Abstract Number: 1947 • 2019 ACR/ARP Annual Meeting
Integrating Genetic Risk Scores and Pre-Diagnostic Metabolomics to Infer Dysregulated Mechanisms in Rheumatoid Arthritis in Women
Background/Purpose: Rheumatoid arthritis genetic risk scores (RA-GRS) improve RA risk prediction, but the added predictive value over lifestyle risk factors is modest. Several human leukocyte…Abstract Number: 1954 • 2019 ACR/ARP Annual Meeting
Association of Functional (GA)n Microsatellite Polymorphism in the FLI1 Gene with Susceptibility to Human Systemic Sclerosis
Background/Purpose: Susceptibility genes which can account for the characteristic features of systemic sclerosis (SSc) such as fibrosis, vasculopathy and autoimmunity remain to be determined. A…Abstract Number: 1959 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Systemic Lupus Erythematosus (SLE) Risk Alleles: Association with Increased Risk for Type 1 Diabetes (T1D) Complications Through a PTPN22 Polymorphism
Background/Purpose: Patients with SLE have increased risk of cardiovascular events and a higher prevalence of metabolic conditions compared to the general population. Inflammation is a…Abstract Number: 1960 • 2019 ACR/ARP Annual Meeting
Pleiotropy of Genetic Predisposition to Rheumatoid Arthritis Increases the Risk for Autoimmune Disease
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is associated with increased risk of cardiovascular disease, cardiometabolic disorders, and autoimmune disease. Thus, we…Abstract Number: 2021 • 2019 ACR/ARP Annual Meeting
Higher Genetic Risk Load in Patients with More Diverse Manifestations in a Korean Systemic Lupus Erythematosus Cohort
Background/Purpose: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with diverse heterogeneous phenotypes. Although many studies of SLE presented estimates of high heritability, impact…Abstract Number: 2740 • 2019 ACR/ARP Annual Meeting
Takayasu Arteritis Associated Risk Locus in IL6 Represses the Anti-inflammatory Gene GPNMB Through Chromatin Looping and Recruiting MEF2-HDAC Complex
Background/Purpose: Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within IL6 (rs2069837 A/G). The…Abstract Number: 2836 • 2019 ACR/ARP Annual Meeting
Do Serum Urate-associated Genetic Variants Differentially Contribute to Gout Risk According to Body Mass Index? Analysis of the UK Biobank
Background/Purpose: Both serum urate-associated genetic variants and body mass index (BMI) are associated with gout risk. The aim of this study was to systematically examine…Abstract Number: 2837 • 2019 ACR/ARP Annual Meeting
Asymptomatic Monosodium Urate Crystal Deposition Associates with Increased Expression of Pro-Inflammatory Genes
Background/Purpose: Persistent hyperuricaemia is a prerequisite for gout. However, only 10% of people with hyperuricaemia develop symptomatic gout, whereas 25-35% have asymptomatic monosodium urate (MSU)…Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting
Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility
Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…Abstract Number: 71 • 2018 ACR/ARHP Annual Meeting
Association of Shared Epitope and Poor Prognostic Factors in RA
Background/Purpose: There is a strong genetic association between RA and human leukocyte antigen (HLA) regions, particularly HLA-DRB1 alleles with the shared epitope (SE). SE alleles…Abstract Number: 2027 • 2018 ACR/ARHP Annual Meeting
Whole Exome Trio Sequencing Implicates DOCK2 in Juvenile Idiopathic Arthritis
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood and has a strong genetic component to disease risk. Genome-wide association studies…
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