Association between a C/A single nucleotide polymorphism of the E-cadherin gene promoter and transitional cell carcinoma of the bladder

Purpose: We investigated whether a C/A single nucleotide polymorphism at position -160 from the transcription start site of the E-cadherin gene promoter is associated with transitional cell carcinoma of the bladder (TCCB). Materials and Methods: A hospital based case-control study was performed in 50 patients with TCCB, including 38 men and 12 women 33 to 72 years old (mean age 53.8+/-12.3), and 50 normal controls, including 31 men and 19 women 22 to 69 years old (mean age 48.9+/-13.1). Genomic DNA was extracted from subject blood samples. Genotypes were determined using polymerase chain reaction based restriction fragment length polymorphism technique. Results: A allele frequencies at the -160 position of the E-cadherin gene promoter were significantly higher in TCCB than in normal controls (p<0.01). A allele carriers were at higher relative risk for TCCB than C only carriers (OR 4.16, 95% CI 1.74 to 9.93). AC and AA genotypes were associated with an increased risk of TCCB compared with CC genotypes (OR 3.48, 95% CI 1.26 to 9.63 and OR 4.91, 95% CI 1.79 to 13.45, respectively). A allele frequencies at the same position were also significantly higher in invasive TCCB than in superficial carcinoma (p<0.05). However, there was no statistical difference in A allele frequency between high and low TCCB pathological grades (p>0.05). Conclusions: The -160 C/A single nucleotide polymorphism of the E-cadherin gene promoter is associated with TCCB. This single nucleotide polymorphism may serve as a prognostic marker of TCCB.