A Genome-wide Scan for Genes Involved in Primary Vesicoureteric Reflux

Overview

Journal J Med Genet

Specialty Genetics

Date 2007 Jul 31

PMID 17660461

Citations 25

Authors

H Kelly

C M Molony

J M Darlow

M E Pirker

A Yoneda

A J Green

P Puri

D E Barton

Affiliations

Soon will be listed here.

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.

Citing Articles

Case report: A novel compound heterozygous variant in the gene causes single kidney agenesis and vesicoureteral reflux.

Liang L, Wu H, Meng H, Fu L, Zhao J Front Endocrinol (Lausanne). 2024; 15:1322395.

PMID: 38370350 PMC: 10869528. DOI: 10.3389/fendo.2024.1322395.

A successful centre for translational paediatric surgical research.

Cascio S, ODonnell A Pediatr Surg Int. 2022; 39(1):50.

PMID: 36520301 DOI: 10.1007/s00383-022-05326-5.

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.

Bartik Z, Sillen U, Djos A, Lindholm A, Fransson S PLoS One. 2022; 17(11):e0277524.

PMID: 36417404 PMC: 9683562. DOI: 10.1371/journal.pone.0277524.

A genome-wide scan to locate regions associated with familial vesicoureteral reflux.

Bartik Z, Sillen U, Ostensson M, Fransson S, Djos A, Sjoberg R Exp Ther Med. 2022; 23(1):92.

PMID: 34976134 PMC: 8674978. DOI: 10.3892/etm.2021.11015.

DNA copy number variations in children with vesicoureteral reflux and urinary tract infections.

Liang D, McHugh K, Brophy P, Shaikh N, Manak J, Andrews P PLoS One. 2019; 14(8):e0220617.

PMID: 31404082 PMC: 6690579. DOI: 10.1371/journal.pone.0220617.

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