Novel IL10 gene family associations with systemic juvenile idiopathic arthritis |
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Authors: | Mark S Fife Ana Gutierrez Emma M Ogilvie Carmel JW Stock Jane M Samuel Wendy Thomson Lisa F Mack Cathryn M Lewis Patricia Woo |
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Institution: | (1) Centre of Pediatric and Adolescent Rheumatology, Windeyer Institute for Medical Sciences, University College London, Cleveland Street, London, W1T 4JF, UK;(2) ARC Epidemiology Unit, University of Manchester, Manchester, UK;(3) Guy's, Kings and St Thomas' School of Medicine, London, UK |
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Abstract: | Juvenile idiopathic arthritis (JIA) is the most common cause of chronic childhood disability and encompasses a number of disease
subgroups. In this study we have focused on systemic JIA (sJIA), which accounts for approximately 11% of UK JIA cases. This
study reports the investigation of three members of the IL10 gene family as candidate susceptibility loci in children with
sJIA. DNA from 473 unaffected controls and 172 patients with sJIA was genotyped for a single nucleotide polymorphism (SNP)
in IL19 and IL20 and two SNPs in IL10. We examined evidence for association of the four SNPs by single marker and haplotype
analysis. Significant differences in allele frequency were observed between cases and controls, for both IL10-1082 (p = 0.031)
and IL20-468 (p = 0.028). Furthermore, examination of the haplotypes of IL10-1082 and IL20-468 revealed greater evidence for
association (global p = 0.0006). This study demonstrates a significant increased prevalence of the low expressing IL10-1082
genotype in patients with sJIA. In addition, we show a separate association with an IL20 polymorphism, and the IL10-1082A/IL20-468T
haplotype. The two marker 'A-T' haplotype confers an odds ratio of 2.24 for sJIA. This positive association suggests an important
role for these cytokines in sJIA pathogenesis. |
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