Association between vitamin D receptor gene polymorphisms and breast cancer in a Chinese population.

Objective: The present study aimed to explore the association between vitamin D receptor (VDR) genetic polymorphisms and breast cancer risk.

Methods: A total of 219 patients with breast cancer and 321 cases of females without breast cancer were enrolled for the present study. PCR-RFLP method was used to genotype 3 SNPs of the VDR gene (rs1544410, rs7975232 and rs731236). ELISA method was used to detect the amount of 1,25(OH)2D3 in the plasma. The results were analyzed using SPSS 17.0 software.

Results: We found rs7975232 was associated with breast cancer risk. Compared with GG genotype carriers, TT subjects had a lower risk of breast cancer (P = 0. 004, OR = 0.774, 95% CI: 0.212~0.955). However, there was no difference in 1,25(OH)2D3 levels among the different genotypes. In addition, the distribution frequency of the haplotype A-G-T in the patients group was 4.4%, significantly higher than the control group (0.7%, P = 0.003; OR=2.643, 95% CI: 1.631~7.012), while the distribution of haplotype G-T-T in the patient group was significantly lower than in the control group (17.3% vs. 28.4%, P = 0.011, OR = 0.543, 95% CI: 0.325~0.854).

Conclusions: The VDR gene was associated with breast cancer pathogenesis; females carrying the haplotype G-T-T had a lower breast cancer risk, while the haplotype A-G-T conferred a higher risk.