Significant association of ERCC6 single nucleotide polymorphisms with bladder cancer susceptibility in Taiwan

To evaluate the association between the polymorphisms of the ERCC6 DNA repair gene, which plays an important role in maintaining genome stability, and the risk of bladder cancer in Taiwan.

In this hospital-based case-control study, the association of ERCC6 codon 399, 1097 and 1413 polymorphisms with bladder cancer risk in a Central Taiwanese population was first investigated. In total, 288 patients with bladder cancer and 288 age- and gender-matched healthy controls recruited from the China Medical Hospital in Taiwan were genotyped.

A significantly different distribution was found in the frequency of the ERCC6 codon 399 genotypes, but not the ERCC6 codon 1097 or 1413 genotypes, between the bladder cancer and control groups. Those who had homozygous A/A or heterozygous A/G at ERCC6 codon 399 showed a 1.97- and 1.04-fold (95% confidence interval=1.29-3.01 and 0.71-1.53, respectively) increased risk of bladder cancer compared to those with G/G. As for ERCC6 codon 1097 or 1413, there was no difference in distribution between the bladder cancer and control groups.

The first evidence that the homozygous A allele of the ERCC6 codon 399 may be associated with the development of bladder cancer and may be a novel useful marker for primary prevention and anticancer intervention is provided.