Open Access

A genome‑wide scan to locate regions associated with familial vesicoureteral reflux

  • Authors:
    • Zsuzsa Bartik
    • Ulla Sillén
    • Malin Östensson
    • Susanne Fransson
    • Anna Djos
    • Rosmarie Sjöberg
    • Tommy Martinsson
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  • Published online on: November 28, 2021     https://doi.org/10.3892/etm.2021.11015
  • Article Number: 92
  • Copyright: © Bartik et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Vesicoureteral reflux (VUR) is a congenital malformation carrying a high risk of recurrent urinary tract infections (UTI) and, at worst, chronic renal failure. Familial clustering implies a genetic etiology, but studies during the past few decades have demonstrated a causal gene variant in <10% of patients with VUR. The aim of the present study was to search for fully or partially shared ancestral haplotypes in 14 families from south‑western Sweden with at least three affected members. High‑density single nucleotide polymorphism microarray was used for genotyping prior to analysis with a compatibility matching method developed in‑house, and the analysis of copy number variations (CNV). No single unique haplotype was revealed to be shared by the families, thereby excluding a common ancestry and founder mutations as a probable cause of VUR. After evaluation of haplotypes shared by subsets of families, a haplotype shared by nine families was found to be of particular interest. This haplotype, located at chromosomal region 4q21.21, harbours two tentative candidate genes (bone morphogenetic protein 3 and fibroblast growth factor 5), both expressed in metanephros and with known functions during nephrogenesis. As to CNV, only one family had a specific CNV shared by all affected members. This was a focal deletion at 5q31.1 including follistatin‑like 4, a gene without a previous known connection to VUR. These data demonstrated the genetic heterogeneity of VUR and indicated that an interaction of environmental and genetic factors, including non‑coding and epigenetic regulators, all contribute to the complexity of VUR.
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January-2022
Volume 23 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Bartik Z, Sillén U, Östensson M, Fransson S, Djos A, Sjöberg R and Martinsson T: A genome‑wide scan to locate regions associated with familial vesicoureteral reflux. Exp Ther Med 23: 92, 2022
APA
Bartik, Z., Sillén, U., Östensson, M., Fransson, S., Djos, A., Sjöberg, R., & Martinsson, T. (2022). A genome‑wide scan to locate regions associated with familial vesicoureteral reflux. Experimental and Therapeutic Medicine, 23, 92. https://doi.org/10.3892/etm.2021.11015
MLA
Bartik, Z., Sillén, U., Östensson, M., Fransson, S., Djos, A., Sjöberg, R., Martinsson, T."A genome‑wide scan to locate regions associated with familial vesicoureteral reflux". Experimental and Therapeutic Medicine 23.1 (2022): 92.
Chicago
Bartik, Z., Sillén, U., Östensson, M., Fransson, S., Djos, A., Sjöberg, R., Martinsson, T."A genome‑wide scan to locate regions associated with familial vesicoureteral reflux". Experimental and Therapeutic Medicine 23, no. 1 (2022): 92. https://doi.org/10.3892/etm.2021.11015