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

AIM: This case/control study aimed to assess the impact of two single nucleotide polymorphisms (SNPs) in the promoter region of CDH1 gene (-160C>A and -347G>GA) on urinary stone formation in a sample of Iraqi children.

METHODS: Forty-seven children with urolithiasis and 50 age- and gender-matched healthy controls were included in the study. DNA was isolated from peripheral blood and direct sequencing was used for genotyping.

RESULTS: The homozygous genotype of the SNP CHD1 -160C>A was more frequent in control than cases (18% vs. 6.38%) with significant difference (OR = 0.229, 95%CI = 0.056-0.943, P = 0.041). Furthermore, cases showed significantly less frequency of the mutant allele (allele A) of this SNP (OR = 0.403, 95%C = 0.210-0.776, P = 0.007).

CONCLUSION: These results strongly indicate a protective role of allele A of the SNP CHD1 -160C>A against urinary calculi formation in children.