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Original article
A genome-wide scan for genes involved in primary vesicoureteric reflux
  1. H Kelly1,
  2. C M Molony2,
  3. J M Darlow3,
  4. M E Pirker4,
  5. A Yoneda3,5,
  6. A J Green1,6,
  7. P Puri4,7,
  8. D E Barton1,6
  1. 1
    The National Centre for Medical Genetics and University College Dublin Department of Medical Genetics, Our Lady‘s Children’s Hospital, Crumlin, Dublin, Ireland
  2. 2
    Rosetta Inpharmatics, Seattle, Washington, USA
  3. 3
    The National Centre for Medical Genetics and The Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
  4. 4
    The Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
  5. 5
    The Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland and Department of Paediatric Surgery, Osaka University Medical School, Osaka, Japan
  6. 6
    The National Centre for Medical Genetics, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland, and Department of Medical Genetics and UCD Conway Institute for Biomolecular and Biomedical Research, National University of Ireland, Dublin
  7. 7
    The Children’s Research Centre, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland, and National Children’s Hospital, Tallaght, Dublin, Ireland
  1. David E Barton, The National Centre for Medical Genetics, Our Lady’s Children’s Hospital Crumlin, Dublin 12, Ireland; david.barton{at}olchc.ie

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

https://doi.org/10.1136/jmg.2007.051086

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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