Abstract Number: 1929 • 2015 ACR/ARHP Annual Meeting
Somatic Mutations in Clonally Expanded Cytotoxic Lymphocytes in Patients with Newly Diagnosed Rheumatoid Arthritis
Background/Purpose: In rheumatoid arthritis (RA), the mechanisms initiating immune dysregulation leading to joint damage are incompletely understood. Previous studies show that large CD8+ T cell…Abstract Number: 2101 • 2015 ACR/ARHP Annual Meeting
HLA Associations in Mothers of Children with Cardiac Manifestations of Neonatal Lupus
Background/Purpose: Cardiac manifestations of neonatal lupus, comprising atrioventricular conduction defects and cardiomyopathy, occur in fetuses exposed to anti-Ro/SSA antibodies, and carry substantial mortality. There is…Abstract Number: 2702 • 2015 ACR/ARHP Annual Meeting
Immunophenotyping of Rheumatoid Arthritis Reveals the Linkage Between HLA-DRB1 Genotype, CXCR4 Expressions on Memory CD4+ T Cells, and Disease Activity
Background/Purpose: The HLA-DRB1 is the strongest genetic risk factor for rheumatoid arthritis (RA). Although this fact suggests a pivotal role for adaptive immunity in RA,…Abstract Number: 2818 • 2015 ACR/ARHP Annual Meeting
Associations of IL23R, BMP6 and PTGS1 Polymorphisms with Radiographic Severity of Ankylosing Spondylitis
Background/Purpose: Ankylosing spondylitis (AS) is an inflammatory disease affecting spine which may lead to new bone formation and disability. However, the radiographic severity of AS…Abstract Number: 2828 • 2015 ACR/ARHP Annual Meeting
Profiling Immunogenic Bacteria within the Microbiota of ZAP-70 Mutant SKG Mice Associated with Spondyloarthritis and Ileitis Using IgA-SEQ
Background/Purpose: IgA production is the main barrier mechanism of mucosal surfaces. High affinity IgA is generated through T cell-dependent mechanisms and preferentially binds to invasive…Abstract Number: 2995 • 2015 ACR/ARHP Annual Meeting
Genome Wide Analysis in Scleroderma Renal Crisis: Defining Genetic Risk in Patients with RNA Polymerase III Auto-Antibodies
Background/Purpose: Scleroderma renal crisis (SRC) is a severe complication of systemic sclerosis (SSc). Most SSc cases demonstrate a disease-specific antinuclear antibody including anti-RNA polymerase III…Abstract Number: 3001 • 2015 ACR/ARHP Annual Meeting
Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis
Background/Purpose: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies (GWAS) have identified a large number of gene regions…Abstract Number: 3225 • 2015 ACR/ARHP Annual Meeting
Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet’s Disease
Background/Purpose: Behcet’s disease (BD) is a systemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other organ complications such as…Abstract Number: 3227 • 2015 ACR/ARHP Annual Meeting
Identification of Novel Protein-Coding Genetic Variants Associated with Takayasu Arteritis
Background/Purpose: Takayasu arteritis is a rare large vessel vasculitis of unclear etiology. Previous studies identified associations between Takayasu arteritis and genetic variants within HLA class…Abstract Number: 93 • 2015 ACR/ARHP Annual Meeting
An HLA-C Amino Acid Variant in Addition to HLA-B*27 Confers Risk for Ankylosing Spondylitis in the Korean Population
Background/Purpose: Ankylosing spondylitis (AS) is a highly heritable rheumatic disease causing chronic inflammation of axial spine, joints and various organs. The presence of HLA-B*27 is…Abstract Number: 3248 • 2015 ACR/ARHP Annual Meeting
Which Factors Explain Multi-Site Pain Caused By Obesity: A 5-Year Follow-up Study in Older Adults?
Background/Purpose: Joint pain is common in older adults; typically multiple joints are involved. Obesity is an important risk factor in pathogenesis of multi-site joint pain…Abstract Number: 99 • 2015 ACR/ARHP Annual Meeting
Personalised Genetic Medicine: HLA-DRB1 Amino Acid Positions 11, 71 and 74 Predict Inflammation Level, Disease Activity and Disability in Rheumatoid Arthritis
Background/Purpose: Amino acid (AA) positions 11, 71 and 74 inside HLA-DRB1 confer susceptibility to rheumatoid arthritis (RA). AAs from these positions form 16 haplotypes, hierarchically…Abstract Number: 1219 • 2014 ACR/ARHP Annual Meeting
Lack of Gene-Diuretic Interactions on Risk of Incident Gout: The Nurses’ Health Study and Health Professionals Follow-up Study
Background/Purpose: Diuretics, particularly thiazide and loop diuretics, increase the risk of gout, likely through urate transporters (e.g., OAT4) and volume depletion promoting urate reabsorption. As…Abstract Number: 1136 • 2014 ACR/ARHP Annual Meeting
Transcriptional Heterogeneity of the SLC2A9 Gene Encoding the GLUT9 Urate Transporter
Background/Purpose: Variation in SLC2A9, which encodes the urate transporter GLUT9, is the major single genetic determinant of serum uric acid (SUA); however, the causal variant(s)…Abstract Number: 1134 • 2014 ACR/ARHP Annual Meeting
Role of NOD2 Pathway in Sarcoidosis Cases with Characteristics of Blau Syndrome
Background/Purpose: Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad symptoms of symmetric arthritis, dermatitis, and granulomatous recurrent uveitis,…
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