Article Text
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 (NPLmax = 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.
- vesico-ureteral reflux
- genome scan
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Footnotes
Competing interests: None.
- Abbreviations:
- HLOD
- heterogeneity logarithm of odds
- OMIM
- Online Mendelian Inheritance in Man
- MCUG
- micturating cystourethrography
- NPL
- nonparametric linkage
- SNP
- single-nucleotide polymorphism
- TDT
- transmission disequilibrium test
- UTI
- urinary tract infections
- VUR
- vesicoureteric reflux