Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis

R. P. Donn, J. H. Barrett, A. Farhan, A. Stopford, L. Pepper, E. Shelley, N. Davies, W. E R Ollier, W. Thomson

    Research output: Contribution to journalArticlepeer-review


    Objective. To investigate the involvement of candidate cytokine genes in the pathogenesis of juvenile idiopathic arthritis (JIA). Methods. Single nucleotide polymorphisms and intragenic microsatellite markers within 8 candidate cytokine genes (interleukin-1α [IL-1α], IL-2, IL-4, IL-6, IL-10, interferon-α1 [IFNA1], interferon-γ [IFNG], and interferon regulatory factor 1 [IRF-1]) were investigated in 417 Caucasian patients with clinically characterized JIA and a panel of 276 unrelated, healthy Caucasian controls, all from the United Kingdom. Results. A novel 3′-untranslated region (3′UTR) polymorphism in IRF-1 was found to be associated with susceptibility to JIA (corrected P = 0.002). No significant association with IL-1α, IL-2, IL-4, IL-6, IL-10, IFNA1, or IFNG was observed. Conclusion. An association between JIA and a previously unreported 3′UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical pheno-type. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.
    Original languageEnglish
    Pages (from-to)802-810
    Number of pages8
    JournalArthritis Care & Research
    Issue number4
    Publication statusPublished - 2001


    • Support,Non-U.S.Gov't


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