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Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in

Renfang Song1, Ihor V Yosypiv2

  • 1Section of Pediatric Nephrology, Department of Pediatrics, Tulane University Health Sciences Center, New Orleans, LA, 70112, USA.

Pediatric Research
|November 11, 2020
PubMed

Insights

Genetic variants in renin-angiotensin system genes are associated with congenital cystic kidney disease in children. This study identified novel gene variants, suggesting multiple gene involvement in multicystic dysplastic kidney development.

Area of Science:

  • Pediatric Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Multicystic dysplastic kidney (MCDK) is a common congenital kidney condition in children with an unknown cause.
  • The renin-angiotensin system plays a crucial role in kidney development.
  • Investigating genetic factors is essential for understanding MCDK etiology.

Purpose of the Study:

  • To explore the association between variants in renin-angiotensin system genes and isolated MCDK in children.
  • To identify novel genetic contributors to MCDK development.
  • To elucidate the role of the renin-angiotensin system in congenital cystic kidney disease.

Main Methods:

  • Sanger sequencing was used to analyze the coding regions of renin (REN), angiotensinogen (AGT), ACE, and angiotensin 1 receptor (AGTR1) genes.
  • PolyPhen-2 software was employed to predict the functional impact of identified DNA sequence variants.
  • Analysis focused on children with isolated MCDK in the United States.

Main Results:

  • Several novel and known variants were identified in the AGT, REN, ACE, and AGTR1 genes.
  • A significant number of these variants were predicted to be damaging or possibly damaging to protein function.
  • Specific counts of damaging and benign variants were determined for each gene analyzed.

Conclusions:

  • Novel associations between sequence variants in REN, AGT, ACE, or AGTR1 genes and isolated MCDK in children were discovered.
  • Findings suggest a recessive disease model for MCDK.
  • The study supports the hypothesis that multiple components of the renin-angiotensin system are involved in the pathogenesis of MCDK.
Abstract

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