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

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.

• Authors: Martin Lacher, Roland Kappler, Sebastian Schroepf, Stefan Berkholz, Antje Ballauff, Philip Bufler, Hansjoerg Baurecht, Dietrich von Schweinitz, Sibylle Koletzko
• Journal: Journal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr) Vol. 49 Issue 1 Pg. 147-50 (Jul 2009) ISSN: 1536-4801 [Electronic] United States
• PMID: 19516190 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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)