Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.
Vesicoureteral reflux (VUR) is the retrograde flow of urine from the bladder into the ureter and towards the kidneys. VUR is the most common cause of end stage renal failure in both children and adults and it is a major cause of severe hypertension in children. VUR is seen in approximately 1-2% of newborn Caucasians. Substantial evidence exists that VUR is a genetic disorder. Uroplakins are integral membrane proteins found in the bladder wall. Knockout studies in mice have suggested uroplakin III (UPK3) as a candidate gene for VUR. We have used parametric and nonparametric linkage analysis and tests for association, to investigate this possibility in a cohort of 126 sibling pairs affected with primary VUR. None of the analyses showed any substantial evidence for linkage or association of markers at the UPK3 locus to VUR. Our results do not support a role for UPK3 in primary VUR.
Kelly
Helena
H
The Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Ennis
Sean
S
Yoneda
Akihiro
A
Bermingham
Claire
C
Shields
Denis C
DC
Molony
Cliona
C
Green
Andrew J
AJ
Puri
Prem
P
Barton
David E
DE
D002648:Child; D002874:Chromosome Mapping; D015331:Cohort Studies; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D035781:Siblings; D060171:Uroplakin III; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
D008562:Membrane Glycoproteins; C554660:UPK3A protein, human; C554661:Upk3a protein, mouse; D060171:Uroplakin III