hsa-miR-510

diarrhea predominant irritable bowel syndrome (IBS-D)

Relationship type:

Causal

Detection method for miRNA expression:

Northern blot, qRT-PCR etc

normal

Validated targets of miRNA from the reference:

HTR3E

Validated targets of miRNA from TarBase:

unknown : More...

Description:

The novel HTR3E 3'UTR variant c.*76G>A (rs62625044) was associated with female IBS-D (P=0.033, OR=8.53). This association was confirmed in a replication study including 119 IBS-D patients and 195 controls from Germany (P=0.0046, OR=4.92). Pooled analysis resulted in a highly significant association of c.*76G>A with female IBS-D (P=0.0002, OR=5.39). In a reporter assay, c.*76G>A affected binding of miR-510 to the HTR3E 3'UTR and caused elevated luciferase expression. HTR3E and miR-510 co-localize in enterocytes of the gut epithelium as shown by in situ hybridization and RT-PCR. This is the first example indicating microRNA related expression regulation of a serotonin receptor gene with a cis-regulatory variant affecting this regulation and appearing to be associated with female IBS-D.

Reference:

First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor type 3E gene with diarrhea predominant irritable bowel syndrome. | PMID:18614545
Kapeller J, Houghton LA, Monnikes H, Walstab J, Moller D, Bonisch H, Burwinkel B, Autschbach F, Funke B, Lasitschka F, Gassler N, Fischer C, Whorwell PJ, Atkinson W, Fell C, Buchner KJ, Schmidtmann M, van der Voort I, Wisser AS, Berg T, Rappold G, Niesler B.
Hum Mol Genet. 2008 Jul 9. [Epub ahead of print]