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


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.
D000328:Adult; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D002295:Carcinoma, Transitional Cell / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D001749:Urinary Bladder Neoplasms / Q000235:genetics*
D015820:Cadherins