A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Maria Luisa ConteSilverio Perrotta

Abstract

Vesicoureteral reflux (VUR) is the most common disease of the urinary tract in children. In order to identify gene(s) involved in this complex disorder, we performed a genome-wide search in a selected sample of 31 patients with primary VUR from eight families originating from southern Italy. Sixteen additional families with 41 patients were included in a second stage. Nonparametric, affected-only linkage analysis identified four genomic areas on chromosomes 1, 3, and 4 (p < 0.05); the best result corresponded to the D3S3681-D3S1569 interval on chromosome 3 (nonparametric linkage score, NPL = 2.75, p = 0.008). This region was then saturated with 26 additional markers, tested in the complete group of 72 patients from 24 families (NPL = 2.01, p = 0.01). We identified a genomic area on 3q22.2-23, where 26 patients from six multiplex families shared overlapping haplotypes. However, we did not find evidence for a common ancestral haplotype. The region on chromosome 1 was delimited to 1p36.2-34.3 (D1S228-D1S255, max. NPL = 1.70, p = 0.03), after additional fine typing. Furthermore, on chromosome 22q11.22-12.3, patients from a single family showed excess allele sharing (NPL = 3.35, p = 0.015). Only the chromosome 3q region has been pre...Continue Reading

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Citations

Apr 8, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shulu ZuAgneta Nordenskjöld
Mar 23, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Inga J MurawskiIndra R Gupta
Aug 20, 2009·European Journal of Human Genetics : EJHG·Christine E BriggsHiep T Nguyen
May 16, 2009·Journal of the American Society of Nephrology : JASN·Patricia L WengAli G Gharavi
Dec 5, 2009·Journal of the American Society of Nephrology : JASN·Heather J CordellUNKNOWN UK VUR Study Group
Feb 7, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Marie-Lyne FillionIndra R Gupta
Mar 27, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Jasmine El AndalousiIndra R Gupta
Apr 20, 2010·Journal of Pediatric Urology·Hiep T NguyenJeffrey B Campbell
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Aug 25, 2011·Nature Reviews. Urology·Prem PuriDavid E Barton

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Software Mentioned

GENEHUNTER
MSIM
GeneMapper
VUR
Mega2
SLINK

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