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The pregnane X receptor gene (PXR/NR1I2) regulates an array of genes involved in the response to xenobiotics.1,2 Dysregulation of this gene may critically influence intestinal barrier defence and susceptibility to inflammatory bowel disease (IBD).3 Recent data from Ireland have suggested strong associations between polymorphisms within the PXR/NR1I2 gene and IBD. Dring et al performed a case control study involving 422 patients with IBD (185 ulcerative colitis (UC) and 237 (Crohn’s disease (CD)) and 350 healthy controls, using eight candidate polymorphisms in this gene.4 Highly significant associations were demonstrated with UC, CD, and IBD as a whole. This effect was most significant for the two individual single nucleotide polymorphisms (SNPs) in the promoter region of this gene; compared between the IBD cohort and controls, rs3814055/−23585 (p = 0.000008; odds ratio (OR) 1.62 (95% confidence interval (CI) 1.31–2.00)) and rs1523127/−24381 (p = 0.0002; OR 1.50 (95% CI 1.21–1.84)).
We have critically re-evaluated the contribution of these allelic …
Dr Gwo-Tzer Ho was supported by the Chief Scientist’s Office, Scottish Executive, UK (2001-04). Dr Albert Tenesa is funded by Cancer Research UK grant C348/A3758. Dr Elaine Nimmo and Mrs Hazel Drummond are supported by a program grant from the Wellcome Trust, C72789/Z/03/Z.
Conflict of interest: None declared.
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