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A genome-wide scan for genes involved in primary vesicoureteric reflux
  1. Helena Kelly (helena.meally{at}teagasc.ie)
  1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
    1. Cliona M Molony (cliona_molony{at}merck.com)
    1. Rosetta Inpharmatics, Seattle, United States
      1. John M Darlow (john.darlow{at}ucd.ie)
      1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
        1. Martina E Pirker
        1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
          1. Akihiro Yoneda (yoneda{at}pedsurg.med.osaka-u.ac.jp)
          1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
            1. Andrew J Green (andrew.green{at}olhsc.ie)
            1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
              1. Prem Puri (prem.puri{at}ucd.ie)
              1. Our Lady's Children's Hospital, Dublin, Republic of Ireland
                1. David E Barton (david.barton{at}olhsc.ie)
                1. National Centre for Medical Genetics, Republic of Ireland

                  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 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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