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E‐cadherin gene polymorphisms and susceptibility to urolithiasis in Iraqi children
Author(s) -
Shamran Haidar Ahmed,
Ali Shaha Hussein,
Ali Mayasa Abdulla,
AlMayah Qasim Sharhan,
Jasim Elham Ahmed
Publication year - 2019
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/nep.13184
Subject(s) - single nucleotide polymorphism , medicine , genotyping , snp , allele , genotype , genetics , case control study , snp genotyping , allele frequency , urinary system , gene , gastroenterology , biology
ABSTRACT 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.