Cystic fibrosis transmembrane conductance regulator (CFTR) gene 5T allele may protect against prostate cancer: a case-control study in Chinese Han population.

Background: Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in a wide variety of epithelial cells including the prostate subglandular epithelia. Previous studies have suggested that CFTR mutations and polymorphisms may be associated with several cancers. Mutations and polymorphisms in the CFTR gene are responsible for cystic fibrosis (CF), and the incidence of prostate cancer in CF patients seemed to be lower than expected.

Methods: A hospital-based case-control study was conducted including 230 prostate cancer patients and 230 age-matched controls. We used nested PCR to analysis the IVS8-poly(T) tract and PCR-RFLP method to analysis the M470V polymorphism in CFTR gene.

Results: We observed an association of the low expression allele, IVS8-5T with prostate cancer protection (P=0.002; OR=0.281, 95%CI 0.120-0.658). Logistic regression analysis confirmed the 5T/7T genotype was in protective association with prostate cancer risk (P=0.003; OR=0.232, 95%CI 0.090-0.599). Linkage disequilibrium between IVS8-poly(T) and M470V existed among prostate cancer patients (D'=0.701). The low expression haplotype, "5T-V470" was found to be associated with protection against prostate cancer risk (P=0.010; OR=0.324, 95%CI 0.132-0.796).

Conclusions: Our results indicate that the low expression CFTR polymorphisms may contribute to a reduced risk of prostate cancer in Chinese Han population.