Objectives. Juvenile idiopathic arthritis (JIA) is a complex polygenic disorder. The encouraging outcome of anti-tumour necrosis factor (TNF) treatment, as well as serological studies, has implicated TNF and its receptors (TNFRI and TNFRII, or TNFRSF1B) in the pathogenesis of JIA. The purpose of this study was to investigate the exon 6 TNFRII single nucleotide polymorphism (SNP) in a well-defined UK cohort of JIA patients, using case-control association analysis. Methods. A total of 435 patients, spanning seven JIA subgroups, and 261 healthy individuals were screened for the polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results. No significant differences were observed between the SNP allelic or genotypic frequencies of patients and controls, or between JIA subgroups. Conclusions. This TNFRII exon 6 SNP does not seem to be associated with susceptibility to JIA.
- Complex genetic disease
- Juvenile idiopathic arthritis
- Single nucleotide polymorphism
- Tumour necrosis factor receptor II
ASJC Scopus subject areas
- Pharmacology (medical)