Abstract Number: 1480 • 2013 ACR/ARHP Annual Meeting
Prevalance Of Rare Variants In Methotrexate Pathway Genes: Implications From The National Heart Lung Blood Institute (NHLBI) Exome Sequencing Project
Background/Purpose: Inter-individual variation to methotrexate (MTX) therapy in patients with rheumatoid arthritis (RA) is attributed at least in part to the presence of genetic variation…Abstract Number: 160 • 2013 ACR/ARHP Annual Meeting
Association Analysis Of The Organic Anion Transporter 4 and Urate Transporter 1 Locus With Gout In New Zealand Case-Control Sample Sets Reveals Multiple Ancestral-Specific Effects
Background/Purpose: There are genetic variants in urate transporters SLC22A11 (OAT4) and SLC22A12 (URAT1) that influence serum urate levels in European Caucasian. However, there is no…Abstract Number: 1278 • 2013 ACR/ARHP Annual Meeting
The Arthritis Severity and Joint Damage Locus Cia25/Pia42 Is a New Genetic Regulator of the Invasive Properties of Synovial Fibroblasts
Background/Purpose: Rheumatoid arthritis (RA) is a chronic and commonly disabling disease with a prevalence of 1% world-wide. Disease remission is rarely achieved with current treatments…Abstract Number: 179 • 2013 ACR/ARHP Annual Meeting
The Association Between Single Nucleotide Polymorphism ABCG2 rs2231142 and Hyperuricemia: A Case-Control Study
Background/Purpose: The prevalence of hyperuricemia and gout in China increased markedly in the past decades. Genome-wide association studies in Caucasian population have identified multiple…Abstract Number: 891 • 2013 ACR/ARHP Annual Meeting
A Single Amino Acid In The β1 Chain Of HLA-DR Explains The Majority Of The HLA Association With Giant Cell Arteriti
Background/Purpose: Giant cell arteritis (GCA) is a polygenic inflammatory disease affecting medium- and large-sized blood vessels in people elder than 50-years old. Although it is…Abstract Number: 157 • 2013 ACR/ARHP Annual Meeting
Application Of a Multiplex Gene Polymorphism Assay For Variants Associated With Rheumatoid Arthritis Susceptibility: Results Of 168 Single Nucleotide Polymorphisms In The Optima Study
Background/Purpose: Genetic factors have been identified that may be associated with the development and severity of rheumatoid arthritis (RA), disease progression, or response to treatment.…Abstract Number: 892 • 2013 ACR/ARHP Annual Meeting
The Functional PTPN22 Variant R620W Is Strongly Associated With Giant Cell Artetitis Predisposition
Background/Purpose: The PTPN22/CSK signaling represents one of the common susceptibility pathways in autoimmunity. Considering that the genetic basis of giant cell arteritis (GCA), an autoimmune…Abstract Number: 2861 • 2013 ACR/ARHP Annual Meeting
Accounting For Parental Load and Identification Of Multiple Risk Variants For Anti-Ro Congenital Heart Block Through High-Density Genotyping Of Immune-Related Loci
Background/Purpose: Anti-Ro associated congenital heart block (CHB) exhibits a 33% concordance rate in monozygotic twins, 17.5% recurrence of disease and a high sibling risk ratio…Abstract Number: 180 • 2013 ACR/ARHP Annual Meeting
Familial Aggregation Of Female Premenopausal Gout –Monogenic, Polygenic Or Clinical Coincidence?
Background/Purpose: Primary gout is a multifactorial disease, in which genetic background and environmental factors interact with each other. Genetic predisposition is particularly prominent in those…Abstract Number: 2739 • 2013 ACR/ARHP Annual Meeting
Immunochip Analysis Identifies New Susceptibility Loci For Systemic Sclerosis: Implications For Pathogenesis
Background/Purpose : The purpose of this study was to identify SSc risk loci shared with other autoimmune diseases on the Immunochip and to fine-map previously…Abstract Number: 2697 • 2013 ACR/ARHP Annual Meeting
Identification Of Genetic and Epigenetic Alterations In Spondyloarthritis
Background/Purpose: Ankylosing spondylitis (AS) is the prototypic spondyloarthritis and affects approximately 0.2-0.5% of the human population. It is estimated that genetic risk factors contribute >90%…Abstract Number: 2642 • 2013 ACR/ARHP Annual Meeting
A Novel Genetic Basis For Systemic Vasculitis: Polyarteritis Nodosa Caused By Recessive Mutations In An Immune-Related Gene
Background/Purpose: Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis. Disease pathogenesis and possible genetic factors are poorly understood. We identified familial, mostly pediatric PAN, in…
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