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E-cadherin gene polymorphisms and susceptibility to urolithiasis in Iraqi children

Haidar Ahmed Shamran1, Shaha Hussein Ali2, Mayasa Abdulla Ali3

  • 1Medical Research Unit, College of Medicine, Al-Nahrain University, Baghdad, Iraq.

Nephrology (Carlton, Vic.)
|October 22, 2017
PubMed

Insights

Genetic variations in the CDH1 gene promoter, specifically the -160C>A single nucleotide polymorphism (SNP), may protect Iraqi children against urinary stone formation. Allele A appears to confer a protective effect.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Nephrology
  • Urology

Background:

  • Urinary stone disease (urolithiasis) is a significant health concern in children.
  • Genetic factors, including single nucleotide polymorphisms (SNPs), are implicated in the etiology of urolithiasis.
  • The CDH1 gene promoter region is a potential site for genetic variations influencing disease susceptibility.

Purpose of the Study:

  • To investigate the association between two CDH1 gene promoter SNPs (-160C>A and -347G>GA) and the risk of urinary stone formation in Iraqi children.
  • To determine if specific genotypes or alleles of these SNPs are linked to pediatric urolithiasis.

Main Methods:

  • A case-control study design was employed.
  • Forty-seven children diagnosed with urolithiasis (cases) and 50 age- and gender-matched healthy children (controls) were recruited.
  • Genotyping of CDH1 promoter SNPs was performed using DNA isolated from peripheral blood and direct sequencing.

Main Results:

  • The homozygous genotype for CDH1 -160C>A was significantly more prevalent in healthy controls compared to children with urinary stones (18% vs. 6.38%, P=0.041).
  • Allele A of the CDH1 -160C>A SNP was found at a significantly lower frequency in cases than in controls (OR=0.403, P=0.007), suggesting a protective role.
  • No significant association was found for the CDH1 -347G>GA SNP.

Conclusions:

  • The results suggest that allele A of the CDH1 -160C>A SNP may offer a protective effect against the development of urinary calculi in the pediatric population.
  • This finding highlights the potential role of specific CDH1 gene promoter variants in pediatric urolithiasis susceptibility.
Abstract

Keywords:
E-cadheringene polymorphismurolithiasis

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