SNPs in the FOXP3 gene region show no association with Juvenile Idiopathic Arthritis in a UK Caucasian population.
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 (T(reg)) 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.


METHODS
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.


CONCLUSIONS
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.
Eastell
T
T
Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK. thomas.eastell@postgrad.manchester.ac.uk
Hinks
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Thomson
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D001171:Arthritis, Juvenile / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D050172:Genes, X-Linked; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors