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Open Access Research article

The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development

Kamel Rouissi1, Islem Ben Bahria1, Karim Bougatef1, Raja Marrakchi1, Nejla Stambouli1, Khouloud Hamdi1, Mohamed Cherif2, Mohamed Riadh Ben Slama2, Mohamed Sfaxi2, Fethi Ben Othman2, Mohamed Chebil2, Amel Benammar Elgaaied1 and Slah Ouerhani3*

Author Affiliations

1 Laboratory of Genetic, Immunology and Human Pathology, Faculty of Sciences of Tunis, University of El Manar I. Tunis, Tunisia

2 Department of Urology, Charles Nicolle Hospital, Tunis, Tunisia

3 Laboratory of Molecular and Cellular Haematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

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BMC Cancer 2011, 11:101  doi:10.1186/1471-2407-11-101

Published: 22 March 2011

Abstract

Background

In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. We have also tried to evaluate whether these variants affect the bladder tumor stage and grade.

Methods

The patients group was constituted of 193 newly diagnosed cases of bladder tumors. The controls group was constituted of non-related healthy subjects. The rs2228001, rs13181 and rs17655 polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism technique.

Results

Our data have reported that non smoker and light smoker patients (1-19PY) are protected against bladder cancer development. Moreover, light smokers have less risk for developing advanced tumors stage. When we investigated the effect of genetic polymorphisms in bladder cancer development we have found that ERCC2 and ERCC5 variants were not implicated in the bladder cancer occurrence. However, the mutated homozygous genotype for XPC gene was associated with 2.09-fold increased risk of developing bladder cancer compared to the control carrying the wild genotype (p = 0.03, OR = 2.09, CI 95% 1.09-3.99). Finally, we have found that the XPC, ERCC2 and ERCC5 variants don't affect the tumors stage and grade.

Conclusion

These results suggest that the mutated homozygous genotype for XPC gene was associated with increased risk of developing bladder. However we have found no association between rs2228001, rs13181 and rs17655 polymorphisms and tumors stage and grade.

Keywords:
Gene repair; Bladder cancer; Polymorphism; Tunisia