Purpose: The uroplakin III (UPIII) knockout mouse provides a good model for human primary vesicoureteral reflux (VUR). Since to our knowledge no causative genes in human VUR have been identified to date, we wondered whether the UPIII gene might be involved in human primary VUR. Therefore, the UPIII gene was sequenced to see if any mutations could be detected in patients with primary VUR.
Materials and methods: DNA was obtained from 25 patients who were surgically treated for primary VUR. Each patient had a family history positive for VUR.
Results: No pathogenic mutations were identified in patient DNA. One missense mutation (Ala154Pro) not reported in the human genome data base was observed. However, because its frequency in the patient and control populations was similar, it was interpreted as a polymorphism.
Conclusions: Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans.