Background: Genetic factors play important roles in the pathogenesis of human cancer. A recent genomewide association study (GWAS) identified an association between the rs2294008 polymorphism of the prostatestem cell antigen (PSCA) gene and bladder cancer risk in Caucasians. The aim of this study was to determinewhether the rs2294008 polymorphism is similarly associated with bladder cancer susceptibility in a Koreanpopulation. Materials and
Methods: We conducted a case-control study of 411 bladder cancer patients and1,700 controls.
Results: The frequencies of the CC, CT, and TT genotypes of the rs2294008 polymorphism were16.9, 54.0, and 28.8% in bladder cancer patients and 24.4, 48.1, and 27.5% in controls, respectively. We foundthat the combined CT/TT genotypes were associated with a significantly increased risk of bladder cancer (ORCT/TT =1.58, 95% CI= 1.15-2.17), compared with the CC genotype. Smoking habits, tumor grade and tumorstage did not modify the association between rs2294008 and the risk of bladder cancer.
Conclusions: Our studyshowed that the rs2294008 polymorphism in the PSCA gene is associated with the risk of bladder cancer in aKorean population, providing evidence that it may contribute to bladder carcinogenesis regardless of ethnicity.