AbstractIntroduction There are many established environmental toxins that correlate with urothelial cancer. Genetic variations in phosphoinositide-3 kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway have also been reported to have association with the risk of urothelial cancer and clinical outcome. The aim of this study is to validate the role of the established RAPTOR gene carrying the risk of urothelial cancer compared with environmental toxin exposure. Methods This study included 168 patients with urothelial cancer and 168 patients with voiding problem as normal control. All these patients were above 50 years old. Environmental toxin exposure such as smoking, arsenic, and Chinese herb were defined as regular exposure in usual life. RAPTOR single nucleotide polymorphisms (SNPs) were analyzed by Hardy–Weinberg equilibrium to compare the observed genotype frequencies to the expected genotype frequencies in controls. Pearson's χ2 test was used to compare the difference in distribution of categorical variables. Statistical significance was set if p value less than 0.005 in this study. Results RAPTOR gene polymorphisms (rs11653499 and rs7212142) were revealed to be significantly associated to the risk of urothelial cancer whether the patients is under environmental toxin exposure or not (both p < 0.001). The predictive effects of urothelial cancer for these two SNPs were both independently significant by multivariate analysis (p < 0.001). Conclusion RAPTOR gene polymorphisms are important SNPs with significantly association with the risk of urothelial cancer in Taiwan. Further researches about raptor-mTOR complex interfering malignant transformation of urothelium is worthy of further investigation.
