A novel 5′-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis

✍ Scribed by R. P. Donn; E. Shelley; W. E. R. Ollier; W. Thomson; British Paediatric Rheumatology Study Group

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 302 KB
• Volume: 44
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/1529-0131(200108)44:8<1782::aid-art314>3.0.co;2-#

✦ Synopsis

Objective. To determine if polymorphisms of the macrophage migration inhibitory factor (MIF) gene are associated with systemic-onset juvenile idiopathic arthritis (JIA).

Methods. Denaturing high-performance liquid chromatography was used to screen for the MIF gene in 32 healthy Caucasian subjects. One hundred seventeen UK Caucasian patients with systemic-onset JIA and 172 unrelated healthy UK Caucasian controls were genotyped for a single-nucleotide polymorphism (SNP) identified in the 5-flanking region of the gene, using polymerase chain reaction-restriction fragment length analysis.

Results. A G-to-C transition was identified at position ؊173 of the MIF gene. The presence of a C at ؊173 creates an activator protein 4 transcription factor binding site. Allele and genotype frequencies differed significantly between the patients and controls for the MIF-173 polymorphism. Individuals possessing a MIF-173*C allele have an increased risk of systemic-onset JIA (36.8% versus 20.3%) (odds ratio 2.3, 95% confidence interval 1.34-3.86; P ‫؍‬ 0.0005).

Conclusion. This is the first report of a SNP in the MIF gene. This polymorphism is associated with systemic-onset JIA.