Type

Journal Article

Authors

D E Barton
P Puri
A J Green
A Yoneda
M E Pirker
J M Darlow
C M Molony
H Kelly

Subjects

Biochemistry

Topics
humans child vesico ureteral reflux female polymorphism single nucleotide genetics genetic heterogeneity dna mutational analysis lod score male epidemiology middle aged embryology adult ireland

A genome-wide scan for genes involved in primary vesicoureteric reflux. (2007)

Abstract 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 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. 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. 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.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

D E Barton, P Puri, A J Green, A Yoneda, M E Pirker, J M Darlow, C M Molony, H Kelly

Experts in our system

1
David E. Barton
University College Dublin
Total Publications: 19
 
2
Prem Puri
University College Dublin
Total Publications: 117
 
3
Andrew Green
University College Dublin
Total Publications: 25
 
4
John M Darlow
University College Dublin
Total Publications: 6
 
5
Helena M Kelly
Royal College of Surgeons in Ireland