Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

Vesico-ureteral reflux (VUR) is the retrograde passage of urine from the bladder to the urinary tract and causes 8.5% of end-stage renal disease in children. It is a complex genetic developmental disorder, in which ectopic embryonal ureteric budding is implicated in the pathogenesis. VUR is part of...

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Autores principales:	Albertien M van Eerde, Karen Duran, Els van Riel, Carolien G F de Kovel, Bobby P C Koeleman, Nine V A M Knoers, Kirsten Y Renkema, Henricus J R van der Horst, Arend Bökenkamp, Johanna M van Hagen, Leonard H van den Berg, Katja P Wolffenbuttel, Joop van den Hoek, Wouter F Feitz, Tom P V M de Jong, Jacques C Giltay, Cisca Wijmenga
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/e163894f80364e20a692e02ad84eef31
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spelling	oai:doaj.org-article:e163894f80364e20a692e02ad84eef312021-11-18T07:20:38ZGenes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.1932-620310.1371/journal.pone.0031327https://doaj.org/article/e163894f80364e20a692e02ad84eef312012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22558067/?tool=EBIhttps://doaj.org/toc/1932-6203Vesico-ureteral reflux (VUR) is the retrograde passage of urine from the bladder to the urinary tract and causes 8.5% of end-stage renal disease in children. It is a complex genetic developmental disorder, in which ectopic embryonal ureteric budding is implicated in the pathogenesis. VUR is part of the spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). We performed an extensive association study for primary VUR using a two-stage, case-control design, investigating 44 candidate genes in the ureteric budding pathway in 409 Dutch VUR patients. The 44 genes were selected from the literature and a set of 567 single nucleotide polymorphisms (SNPs) capturing their genetic variation was genotyped in 207 cases and 554 controls. The 14 SNPs with p<0.005 were included in a follow-up study in 202 cases and 892 controls. Of the total cohort, ~50% showed a clear-cut primary VUR phenotype and ~25% had both a duplex collecting system and VUR. We also looked for association in these two extreme phenotype groups. None of the SNPs reached a significant p-value. Common genetic variants in four genes (GREM1, EYA1, ROBO2 and UPK3A) show a trend towards association with the development of primary VUR (GREM1, EYA1, ROBO2) or duplex collecting system (EYA1 and UPK3A). SNPs in three genes (TGFB1, GNB3 and VEGFA) have been shown to be associated with VUR in other populations. Only the result of rs1800469 in TGFB1 hinted at association in our study. This is the first extensive study of common variants in the genes of the ureteric budding pathway and the genetic susceptibility to primary VUR.Albertien M van EerdeKaren DuranEls van RielCarolien G F de KovelBobby P C KoelemanNine V A M KnoersKirsten Y RenkemaHenricus J R van der HorstArend BökenkampJohanna M van HagenLeonard H van den BergKatja P WolffenbuttelJoop van den HoekWouter F FeitzTom P V M de JongJacques C GiltayCisca WijmengaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 4, p e31327 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Albertien M van Eerde Karen Duran Els van Riel Carolien G F de Kovel Bobby P C Koeleman Nine V A M Knoers Kirsten Y Renkema Henricus J R van der Horst Arend Bökenkamp Johanna M van Hagen Leonard H van den Berg Katja P Wolffenbuttel Joop van den Hoek Wouter F Feitz Tom P V M de Jong Jacques C Giltay Cisca Wijmenga Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
description	Vesico-ureteral reflux (VUR) is the retrograde passage of urine from the bladder to the urinary tract and causes 8.5% of end-stage renal disease in children. It is a complex genetic developmental disorder, in which ectopic embryonal ureteric budding is implicated in the pathogenesis. VUR is part of the spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). We performed an extensive association study for primary VUR using a two-stage, case-control design, investigating 44 candidate genes in the ureteric budding pathway in 409 Dutch VUR patients. The 44 genes were selected from the literature and a set of 567 single nucleotide polymorphisms (SNPs) capturing their genetic variation was genotyped in 207 cases and 554 controls. The 14 SNPs with p<0.005 were included in a follow-up study in 202 cases and 892 controls. Of the total cohort, ~50% showed a clear-cut primary VUR phenotype and ~25% had both a duplex collecting system and VUR. We also looked for association in these two extreme phenotype groups. None of the SNPs reached a significant p-value. Common genetic variants in four genes (GREM1, EYA1, ROBO2 and UPK3A) show a trend towards association with the development of primary VUR (GREM1, EYA1, ROBO2) or duplex collecting system (EYA1 and UPK3A). SNPs in three genes (TGFB1, GNB3 and VEGFA) have been shown to be associated with VUR in other populations. Only the result of rs1800469 in TGFB1 hinted at association in our study. This is the first extensive study of common variants in the genes of the ureteric budding pathway and the genetic susceptibility to primary VUR.
format	article
author	Albertien M van Eerde Karen Duran Els van Riel Carolien G F de Kovel Bobby P C Koeleman Nine V A M Knoers Kirsten Y Renkema Henricus J R van der Horst Arend Bökenkamp Johanna M van Hagen Leonard H van den Berg Katja P Wolffenbuttel Joop van den Hoek Wouter F Feitz Tom P V M de Jong Jacques C Giltay Cisca Wijmenga
author_facet	Albertien M van Eerde Karen Duran Els van Riel Carolien G F de Kovel Bobby P C Koeleman Nine V A M Knoers Kirsten Y Renkema Henricus J R van der Horst Arend Bökenkamp Johanna M van Hagen Leonard H van den Berg Katja P Wolffenbuttel Joop van den Hoek Wouter F Feitz Tom P V M de Jong Jacques C Giltay Cisca Wijmenga
author_sort	Albertien M van Eerde
title	Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
title_short	Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
title_full	Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
title_fullStr	Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
title_full_unstemmed	Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
title_sort	genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/e163894f80364e20a692e02ad84eef31
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Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

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