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

PloS One
Albertien M van EerdeCisca Wijmenga

Abstract

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 dup...Continue Reading

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Citations

Feb 7, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Marie-Lyne FillionIndra R Gupta
Apr 16, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Adrian S WoolfWilliam G Newman
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Feb 8, 2020·F1000Research·Vladimir M Kozlov, Andreas Schedl
Feb 19, 2021·Journal of the American Society of Nephrology : JASN·Miguel VerbitskyAli G Gharavi

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Methods Mentioned

BETA
exome sequencing
genotyping

Software Mentioned

FastSNP
PLINK
Bead Studio
Alamut
Haploview
Tagger
Genetic Power Calculator
Interactive Biosoftware

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