Objective: The purpose was to investigate single nucleotide polymorphism of the vitamin D receptor gene and its possible relationship with colorectal cancer (CRC) in a Chinese population.
Methods: The vitamin D receptor (VDR) genotypes were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) using endonuclease BsmI and FokI, and direct sequencing in 400 Chinese people, comprised of 200 CRC patients and 200 controls from the same area in China.
Results: The distribution of alleles (F/f) and genotypes (FF/Ff/ff) of the FokI had no significant difference between CRC patients and normal controls (P > 0.05), while that of the B allele and the BB genotype of the BsmI in CRC patients was significantly lower compared with the control group (0.1625 versus 0.740, P < 0.05, OR = 0.068, 95% CI: 0.048-0.096 and 0.060 versus 0.590, P < 0.05, OR = 0.015, 95% CI: 0.007-0.032).
Conclusion: The BB genotype of the VDR BsmI variant was significantly associated with a decreased risk of CRC in a Chinese population, while the VDR FokI polymorphism was not significantly associated with it.