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 newborn Caucasians and is frequently familial.
Aim and methods: In order to search for genetic loci involved in VUR, we have performed a genome-wide linkage scan using 4710 single nucleotide polymorphisms (SNPs) in 609 individuals from 129 Irish families with more than one member affected.
Results: Nonparametric analysis of the data set yielded moderately suggestive linkage at chromosome 2q37 (NPLmax = 2.67, p ~ 0.0002), while analysis of a subset without any additional features, such as duplex kidneys, yielded a maximum NPL score of 4.1 (p = 0.00001), 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 lend support to several disease-associated regions indicated by smaller studies, as well as indicating new regions of interest for investigation.
- genome scan
- vesico-ureteral reflux
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