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

H Kelly1, C M Molony, J M Darlow

  • 1The National Centre for Medical Genetics, University College Dublin Department of Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.

Journal of Medical Genetics
|July 31, 2007
PubMed

Insights

Genetic analysis identified chromosome 2q37 as a significant region linked to childhood vesicoureteric reflux (VUR). This common urological anomaly, VUR, affects kidney health and can lead to hypertension.

Area of Science:

  • Genetics
  • Urology
  • Pediatrics

Background:

  • Vesicoureteric reflux (VUR) is the most common pediatric urological anomaly.
  • VUR is a significant cause of end-stage renal failure and hypertension.
  • It affects 1-2% of Caucasian newborns and has a familial tendency.

Purpose of the Study:

  • To identify genetic loci associated with VUR.
  • To investigate the genetic basis of this common childhood condition.

Main Methods:

  • Genome-wide linkage scan performed on 129 Irish families with 609 individuals.
  • Utilized 4710 single-nucleotide polymorphisms (SNPs).
  • Nonparametric linkage (NPL) analysis was conducted.

Main Results:

  • Suggestive linkage identified at chromosome 2q37 (NPL(max) = 2.67, p<0.001).
  • Genome-wide statistically significant linkage found at 2q37 (NPL=4.1, p=0.001) in a subset excluding additional anomalies.
  • Suggestive linkage also observed at 10q26 and 6q27.

Conclusions:

  • Vesicoureteric reflux (VUR) is genetically heterogeneous.
  • Results support previously indicated disease-associated regions and highlight new regions for VUR research.
  • Genetic investigation is crucial for understanding VUR etiology.
Abstract

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