Significant association of an XRCC4 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan

The DNA repair gene XRCC4, a member of NHEJ for double strand breaks, is very important in maintaining the overall genome stability, and may play an important role in carcinogenesis. To reveal the relationship between XRCC4 and bladder cancer, seven polymorphic variants of XRCC4, including C-1622T (rs7727691), G-1394T (rs6869366), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) were investigated and analyzed for their association with bladder cancer susceptibility.

In this case-control study, the association of these variants of XRCC4 with bladder carcinogenesis in Taiwan was investigated. Bladder cancer patients (158) and 158 age- and gender-matched healthy controls were recruited and their genotypes were analyzed by PCR-based restriction fragment length polymorphism method.

It was found that XRCC4 G-1394T is a significant SNP in bladder carcinogenesis after analyzing the frequencies of each variant in both bladder cancer and control groups. The data indicated that the heterogeneous G of G-1394T is an obvious risk factor of bladder cancer susceptibility (p=0.005) and the data of G allele also showed a similar situation (p=0.0099). As for the other six polymorphisms, there was no difference between the bladder cancer and control groups.

These findings suggest that the G allele of XRCC4 G-1394T may be involved in bladder carcinogenesis and useful in early detection of bladder cancer.