Objective: To detect the association between vitamin D receptor polymorphism and breast cancer.
Methods: Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used. Two restriction fragment length polymorphisms in the 3'region of vitamin D receptor (VDR) gene, Taq I and Apa I, were tested for association with breast cancer risk in 86 females with breast cancer and 134 healthy female controls.
Results: Allele frequencies of the 3'Taq I polymorphism showed a significant association (P=0.0004, OR:5.39,CI:1.81-17.20). The further study of genotype found the association of Tt, tt with breast cancer. The haplotype analysis of Apa I and Taq I showed a linkage disequilibrium between t-allele and A-allele. The frequency of tA haplotype was higher in breast cancer patients than in controls (P=0.001), indicating that tA haplotype is associated with breast cancer. The alleles and haplotype of the two loci had not any difference among the clinical subgroups.
Conclusion: There is association between vitamin D receptor polymorphism and breast cancer.