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


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.
Lacher
Martin
M
Department of Pediatric Surgery, Dr von Haunersches Kinderspital, Ludwig-Maximilians-University of Munich, Lindwurmstr, Munich, Germany. martin.lacher@lmu.de
Kappler
Roland
R
Schroepf
Sebastian
S
Berkholz
Stefan
S
Ballauff
Antje
A
Bufler
Philip
P
Baurecht
Hansjoerg
H
von Schweinitz
Dietrich
D
Koletzko
Sibylle
S
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D000077297:Pregnane X Receptor; D012333:RNA, Messenger / Q000378:metabolism; D011987:Receptors, Steroid / Q000235:genetics*
D000077297:Pregnane X Receptor; D012333:RNA, Messenger; D011987:Receptors, Steroid