Abstract Number: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…Abstract Number: 1278 • 2018 ACR/ARHP Annual Meeting
Evaluating a Causal Role of Mitochondrial Variation in the Development of Gout
Background/Purpose: Mitochondria execute roles in diverse cellular pathways. As a danger signal, damaged mitochondria can induce inflammation in response to stress through NLRP3 inflammasome activation,…Abstract Number: 1271 • 2017 ACR/ARHP Annual Meeting
Associations between Systemic Lupus Susceptibility (SLE) Loci and Anti-Phospholipid Antibody (aPL) Positivity in Childhood-Onset SLE (cSLE)
Background/Purpose: Genome-wide association studies have identified nearly 60 susceptibility loci for systemic lupus erythematosus (SLE). However, few studies have investigated their influence on specific disease…Abstract Number: 1663 • 2017 ACR/ARHP Annual Meeting
De Novo Mutation in ΑCΑCΒ in Childhood Onset SLE Highlights a Novel Role As Modulator of Nucleic Acid Sensor-Driven Type I Interferon Responses
Background/Purpose: Rare variants provide important opportunity for mechanistic insight as they carry substantial effect sizes and provide deep insight into disease etiopathogenesis. To date, several…Abstract Number: 1713 • 2017 ACR/ARHP Annual Meeting
Defining Genetic Risk for Scleroderma Renal Crisis in RNA-Polymerase III Antibody Positive Patients
Background/Purpose: Scleroderma renal crisis (SRC), characterised by accelerated hypertension and acute kidney injury, is a life-threatening complication of systemic sclerosis (SSc). Most SSc cases have…Abstract Number: 1751 • 2017 ACR/ARHP Annual Meeting
Association of a TNFSF4 Upstream Region Single Nucleotide Polymorphism with Susceptibility to Proteinase 3-ANCA Positive Vasculitis in a Japanese Population
Background/Purpose: In the epidemiology of ANCA-associated vasculitis (AAV), an obvious difference between European and Asian populations has been reported. According to the clinical classification, granulomatosis…Abstract Number: 2323 • 2017 ACR/ARHP Annual Meeting
Exploring HLA-DRB1 Risk Alleles in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior Uveitis
Exploring HLA-DRB1 Risk Alleles in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior UveitisBackground/Purpose: HLA-DRB1*08, 11 and 13 are risk alleles associated…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: 288 • 2017 ACR/ARHP Annual Meeting
The Rheumatoid Arthritis Susceptibility Gene C5orf30 Is an Immunomodulator in Macrophages
Background/Purpose: rs26232 in the first intron of C5orf30 has been associated with risk of developing rheumatoid arthritis (RA) and severity of tissue damage. C5orf30 is…Abstract Number: 377 • 2017 ACR/ARHP Annual Meeting
Novel Insights into Periodic Fever Syndromes
Background/Purpose: The Periodic Fever Syndromes (PFS) are a rapidly expanding group of disorders primarily of the innate immune system that often affect the inflammasome. In…Abstract Number: 689 • 2017 ACR/ARHP Annual Meeting
Apolipoprotein L1 Risk Variants Associate with Hypertension and Nephritis Progression Despite Lower dsDNA Titers in Ghanaian Systemic Lupus Erythematous Patients
Background/Purpose: Two Apolipoprotein L1 (APOL1) risk variants (RV), G1 and G2 are enriched in African populations due to a conferred resistance to Trypanosoma brucei. This…
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