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DNA copy number variations in children with vesicoureteral reflux and urinary tract infections
- Source :
- PLoS ONE, PLoS ONE, Vol 14, Iss 8, p e0220617 (2019)
- Publication Year :
- 2019
- Publisher :
- Public Library of Science, 2019.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Male
Molecular biology
Genetic Linkage
030232 urology & nephrology
Bioinformatics
urologic and male genital diseases
Molecular biology assays and analysis techniques
0302 clinical medicine
Risk Factors
Medicine and Health Sciences
Copy-number variation
Child
Multidisciplinary
Genomics
female genital diseases and pregnancy complications
Copy Number Variation
3. Good health
Urinary Tract Infections
Medicine
Female
Anatomy
Research Article
DNA Copy Number Variations
Urinary system
Science
Urology
Genome Complexity
Vesicoureteral reflux
03 medical and health sciences
Genetic linkage
medicine
Genetics
Humans
Genetic Predisposition to Disease
DNA filter assay
Comparative genomics
Vesico-Ureteral Reflux
Evolutionary Biology
Population Biology
business.industry
Case-control study
Biology and Life Sciences
Computational Biology
Human Genetics
Renal System
Comparative Genomics
medicine.disease
Human genetics
Immunity, Innate
Research and analysis methods
030104 developmental biology
Molecular biology techniques
Genetic Loci
Case-Control Studies
Genetic Polymorphism
business
Population Genetics
Comparative genomic hybridization
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 14
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....6a3e7af85f30499e98336e931c22f8b5