Association of vitamin D receptor gene polymorphisms with breast cancer risk

Author(s): Shruti R. Patel [1]; Kinjal D. Patel [1]; Jayendra B. Patel [1]; Prabhudas S. Patel [1,2]; Franky Dhaval Shah (corresponding author) [1] INTRODUCTION In India, breast cancer ranks first [...]
S Background: Recent literature suggests that vitamin D signaling has a protective effect against breast cancer risk. Thus, the aim of the present study was to find the association of vitamin D receptor (VDR) gene polymorphisms with breast cancer risk. Materials and Methods: Fok1, Bsm1, Apa1, and Taq1 polymorphisms were performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method, and Poly A polymorphism was carried out using PCR-SSCP in 140 breast cancer patients and 155 controls. Results: Odds ratio was significantly higher in both homozygous variant genotypes (LL) of Poly A polymorphism of VDR (odds ratio [OR] = 5.42, 95 confidence interval [CI] = 1.19-23.31, P = 0.02) and heterozygous variant genotypes (SL) of Poly A polymorphism of VDR (OR = 3.89, 95 CI = 1.10-13.7, P = 0.03). Fok1, Bsm1, Apa1, and Taq1 polymorphisms of VDR gene were not significantly associated with breast cancer risk. Conclusion: Poly A polymorphism at the 3′ untranslated region (UTR) of VDR gene was significantly associated with breast cancer risk in West Indian population. Keywords: 25(OH) D, Apa1, Bsm1, Fok1, Poly A, Taq1, VDR polymorphisms