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Rheumatology Advance Access originally published online on May 27, 2007
Rheumatology 2007 46(8):1263-1265; doi:10.1093/rheumatology/kem129
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

SNPs in the FOXP3 gene region show no association with Juvenile Idiopathic Arthritis in a UK Caucasian population

T. Eastell, BSPAR Study Group, A. Hinks and W. Thomson

Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK.

Correspondence to: T. Eastell, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK. E-mail: thomas.eastell{at}postgrad.manchester.ac.uk


  Abstract

Objective. A region on the short arm of the X-chromosome, Xp11, has previously been linked to childhood-onset polyarthritis. Mapping to the linked region is FOXP3, a transcription factor that regulates regulatory T cell (Treg) development and function. The objective of this study was to determine whether single nucleotide polymorphisms (SNPs) in the FOXP3 gene region contribute to JIA susceptibility.

Method. Nine FOXP3 SNPs were genotyped in 761 JIA cases and 402 controls using the Sequenom® MassARRAY® system. Association was measured using either {chi}2 or Fisher's exact test at the allelic and genotypic level. Furthermore, cases and controls were stratified by gender and association measured for each stratum.

Results. None of the SNPs showed an association with JIA. Similarly, the lack of association was also evident in both the female and male cohorts.

Conclusion. Although FOXP3 presents itself as a good candidate for contributing to JIA susceptibility, this study, which was powered to detect associations with genotypic relative risk >2 in the female cohort, has failed to find an association between SNPs in the FOXP3 gene region and JIA.

KEY WORDS: FOXP3, Juvenile idiopathic arthritis, Association analysis, X-linked gene

Submitted 19 February 2007; revised version accepted 5 April 2007.
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