Introduction: Urinary stone disease is one of the most commonly seen urological diseases in Taiwan. Single nucleotide polymorphisms (SNPs) are commonly used for the investigation of genetic markers for stone disease. E-cadherin (CDH-1) is one of the cellular junction proteins related to the integrity of epithelial cells. Our aim was to investigate a polymorphism of the CDH-1 gene 3′-UTR as a possible genetic marker in the search for the genetic causes. Materials and Methods: 148 patients with calcium oxalate stone were compared with 103 healthy controls for the frequency of CDH-1 3′-UTR polymorphisms. The polymorphism was detected by polymerase chain reaction-based restriction analysis (Pml I endonuclease). Results and Conclusions: The results revealed significant differences between normal individuals and calcium stone disease patients (p = 0.0013). The distribution of genotype TT homozygote was higher in stone patients (51.5%) than in the control group (43.4%). The odds ratio for T allele compared to C allele was 2.0. We have concluded that polymorphisms of CDH-1 3′-UTR is a valid genetic marker for calcium stone disease.

Keywords:
CDH-1 gene, E-cadherin, Urolithiasis, Single nucleotide polymorphisms
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© 2003 S. Karger AG, Basel
2003
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