Nuclear pregnane X receptor single nucleotide polymorphism (-25385C/T) is not associated with inflammatory bowel disease in pediatric patients

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):147-50. doi: 10.1097/MPG.0b013e31818de1a8.

Abstract

Objective: Studies in adults characterized the role of the pregnane X receptor (PXR) in the pathophysiology of inflammatory bowel disease (IBD) with conflicting results; pediatric studies are still lacking.

Patients and methods: Genotyping for the -25385C/T polymorphism of the PXR gene in 187 white children with IBD and 185 controls. Determination of colonic PXR expression in selected patients with IBD.

Results: Minor allele frequency was seen in 35.6% patients with IBD and 40.5% controls (P = 0.174), although no significant differences were seen between the genotypes (P = 0.366). PXR was underexpressed in colonic tissue of 7 out of 11 Crohn disease and in 4 out of 5 patients with ulcerative colitis.

Conclusions: We could not confirm an association of the -25385C/T polymorphism in pediatric patients with IBD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Inflammatory Bowel Diseases / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Pregnane X Receptor
  • RNA, Messenger / metabolism
  • Receptors, Steroid / genetics*

Substances

  • Pregnane X Receptor
  • RNA, Messenger
  • Receptors, Steroid