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A genome-wide scan for genes involved in primary vesicoureteric reflux.


ABSTRACT: BACKGROUND: Vesicoureteric reflux (VUR) is the retrograde flow of urine from the bladder into the ureters. It is the most common urological anomaly in children, and a major cause of end-stage renal failure and hypertension in both children and adults. VUR is seen in approximately 1-2% of Caucasian newborns and is frequently familial. OBJECTIVE AND METHODS: In order to search for genetic loci involved in VUR, we performed a genome-wide linkage scan using 4710 single-nucleotide polymorphisms (SNPs) in 609 individuals from 129 Irish families with >1 affected member. RESULTS: Nonparametric linkage (NPL) analysis of the dataset yielded moderately suggestive linkage at chromosome 2q37 (NPL(max) = 2.67, p<0.001). Analysis of a subset without any additional features, such as duplex kidneys, yielded a maximum NPL score of 4.1 (p = 0.001), reaching levels of genome-wide statistical significance. Suggestive linkage was also seen at 10q26 and 6q27, and there were several smaller peaks. CONCLUSION: Our results confirm the previous conclusion that VUR is genetically heterogeneous, and support the identification of several disease-associated regions indicated by smaller studies, as well as indicating new regions of interest for investigation.

SUBMITTER: Kelly H 

PROVIDER: S-EPMC2752186 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature

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A genome-wide scan for genes involved in primary vesicoureteric reflux.

Kelly H H   Molony C M CM   Darlow J M JM   Pirker M E ME   Yoneda A A   Green A J AJ   Puri P P   Barton D E DE  

Journal of medical genetics 20070727 11


<h4>Background</h4>Vesicoureteric reflux (VUR) is the retrograde flow of urine from the bladder into the ureters. It is the most common urological anomaly in children, and a major cause of end-stage renal failure and hypertension in both children and adults. VUR is seen in approximately 1-2% of Caucasian newborns and is frequently familial.<h4>Objective and methods</h4>In order to search for genetic loci involved in VUR, we performed a genome-wide linkage scan using 4710 single-nucleotide polymo  ...[more]

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