Abstract
AIM:
This case/control study aimed to assess the impact of two 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 urolithiasisand 50 age- and gender-matched healthy controls. 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.
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2018
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