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. Copyright 2003 S. Karger AG, Basel
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 calciumstone diseasepatients (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 calciumstone disease. Copyright 2003 S. Karger AG, Basel