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Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis

¹ Molecular Medicine Centre, Gastrointestinal Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK
² Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK
³ Molecular Medicine Centre, Gastrointestinal Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK
⁴ MRC Human Genetics Unit, Edinburgh, UK
⁵ Molecular Medicine Centre, Gastrointestinal Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK

Correspondence to:
Correspondence to:
Dr G-T Ho
Molecular Medicine Unit, Gastrointestinal Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK; gwotzerho@aol.com

Keywords: pregnane X receptor; PXR/NR1I2; genetics; inflammatory bowel disease; haplotype analysis

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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