DNA copy number variations in children with vesicoureteral reflux and urinary tract infections

Liang, D., McHugh, K. M., Brophy, P. D., Shaikh, N., Manak, J. R., Andrews, P., Hakker, I., Wang, Z., Schwaderer, A. L., Hains, D. S. (August 2019) DNA copy number variations in children with vesicoureteral reflux and urinary tract infections. PLoS One, 14 (8). e0220617. ISSN 1932-6203

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URL: https://www.ncbi.nlm.nih.gov/pubmed/31404082
DOI: 10.1371/journal.pone.0220617


Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR. These loci normally harbor a number of genes whose biologically functional variant is yet to be identified. DNA copy number variations (CNVs) have not been extensively studied at high resolution in VUR patients. In this study, we performed array comparative genomic hybridization (aCGH) on a cohort of patients with a history of both VUR and urinary tract infection (UTI) with the objective of identifying genetic variations responsible for VUR and/or UTI susceptibility. UTI/VUR-associated CNVs were identified by aCGH results from the 192 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) patients compared to 683 controls. Rare, large CNVs that are likely pathogenic and lead to VUR development were identified using stringent analysis criteria. Because UTI is a common affliction with multiple risk factors, we utilized standard analysis to identify potential disease-modifying CNVs that can contribute to UTI risk. Gene ontology analysis identified that CNVs in innate immunity and development genes were enriched in RIVUR patients. CNVs affecting innate immune genes may contribute to UTI susceptibility in VUR patients and may provide the first step in assisting clinical medicine in determining adverse outcome risk in children with VUR.

Item Type: Paper
Additional Information:
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants
organs, tissues, organelles, cell types and functions > cell types and functions > cell functions > immunity
diseases & disorders > urinary disorders
CSHL Authors:
Communities: CSHL labs > Wigler lab
Depositing User: Matthew Dunn
Date: 12 August 2019
Date Deposited: 20 Aug 2019 19:59
Last Modified: 29 Jun 2021 19:50
PMCID: PMC6690579
Related URLs:
URI: https://repository.cshl.edu/id/eprint/38300

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