Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Calcium Oxalate Stone Disease

Abstract

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.

E-Cadherin Gene 3′-UTR C/T Polymorphism Is Associated with Prostate Cancer

“…The genotype distribution of 'CC' homozygote in the control group (10.5%) in this study was similar to that in the control group in our study of stone disease (control group 4.9%) [9] . In that study, the prominent genotype in stone disease patients was 'TT' homozygote (27.7%).…”

“…The CDH-1 gene is located at 16q22.1 and a polymorphism involving a single base change from C to T at position 3 -UTR +54 after the stop codon of the gene is known to exist [8] . This polymorphism was reported to be associated with stone disease, but its association with cancer has yet to be investigated [9] . Therefore, we aimed to determine whether the CDH-1 polymorphism was associated with cancer by analyzing its distribution between prostate cancer patients and normal controls.…”

Reply

“…The polymorphisms reported in the literature from Caucasians, such as TGF-ß1 (-800), THSR (D36H), and collagen-related gene (COL3A1 gene exon 32 and COL1A1 intron 1), were not found in our laboratory. But we did find that the frequency of CT heterozygotes of the E-cadherin gene 3)-UTR polymorphism in different study groups (table 1) was the same as our data [1]. Therefore, we believe that this distribution exists in our ethnic group and is not differed from other control groups in this area.…”

Association of three single nucleotide polymorphisms of the E-cadherin gene with endometriosis in a Chinese population

“…Although the function of the 3 0 -UTR C54 C/T polymorphism was unclear, studies have showed that this polymorphism was associated with cancer and other diseases (Tsai et al 2003, Wu et al 2005, Lin et al 2006. Wu et al found that the 'CC' homozygote indicates a relatively higher risk for developing prostate cancer than other genotypes (Lin et al 2006).…”