This article is part of the supplement: 15th Paediatric Rheumatology European Society (PreS) Congress .

Poster presentation

Are genetic variants of Caspase-1 and Cryopyrin associated with systemic JIA?

CJ Stock, EM Ogilvie, JM Samuel, M Fife and P Woo

University College London, London, UK

corresponding author email

from 15^th Paediatric Rheumatology European Society (PreS) Congress
London, UK. 14–17 September 2008

Pediatric Rheumatology 2008, 6(Suppl 1):P7doi:10.1186/1546-0096-6-S1-P7

The electronic version of this abstract is the complete one and can be found online at: http://www.ped-rheum.com/content/6/S1/P7

Published:

15 September 2008

© 2008 Stock et al; licensee BioMed Central Ltd.

Background

The systemic subtype of juvenile idiopathic arthritis (sJIA) can be the most severe, and unlike other forms of JIA is an autoinflammatory disease. There is evidence for the involvement of IL-1 in sJIA: treatment with the IL-1 receptor agonist, Anakinra, has shown dramatic improvement in some sJIA patients. Additionally we have shown a significant association with members of the IL-1 gene family and sJIA [1]. Caspase-1 is required to cleave IL-1β into its active form and Cryopyrin (NLRP3) is part if the IL-1β inflammasome, required for the activation of caspase-1. Mutations in NLRP3 have been found in patients that have similar clinical features with sJIA, e.g. CINCA. Here we describe a candidate gene association study of CASP1 and NLRP3 in sJIA.

Materials and methods

Publicly available genotyping data and a tagging SNP(tSNP) approach were used to examine SNPs across the CASP1 and NLRP3 genomic regions. A total of 47 tSNPs were genotyped in 130 sJIA patients and 146 healthy controls. Analysis of the genotypes were performed using the software UNPHASED.

Results

There is no evidence of an association between CASP1 and NLR3 with sJIA.

Conclusion

These results indicate that while members of the IL-1 gene family have been shown to be associated with sJIA, there is no evidence for an association with SNPs in CASP1 or NLRP3.

References

1. Stock CJ, Ogilvie EM, Samuel JM, Fife M, Lewis CM, Woo P: Comprehensive association study of genetic variants in the IL-1 gene family in systemic juvenile idiopathic arthritis.

   Genes Immun, in press. PubMed Abstract | Publisher Full Text

   2008 Apr 17;

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