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The analysis of association of polymorphic variants of the vitamin D receptor gene ( VDR ) with bone mineral density (BMD) values in menopausal women was performed. The study included 66 patients with postmenopausal osteoporosis (PMO group) and 170 postmenopausal women with normal BMD values (CON group). The statistically significant dierence between the analyzed groups in the genotypes and the alleles frequency distribution for the  VDR  ApaI gene variant was revealed: for the carriers of C/C genotype, the risk of osteoporosis was higher compared to individuals with A/A genotype (OR = 2.7 [95 % CI: 1.5–4.7],  p  = 0.002). Allele  A  was overrepresented in the CON group and associated with the reduced risk of disease (OR = 0.6 [95 % CI: 0.4–0.8],  p  = 0.001). Statistically significant dierences were found between the studied groups when analyzing  VDR  BsmI gene variant distribution. For the individuals with the unfavorable  VDR  BsmI G/G-genotype, the risk of PMO was significantly higher when compared to the carriers of the A/A-genotype (OR = 2.1 [95 % CI: 1.0–4.4],  p  = 0.02). For the bearers of A-allele, the risk of osteoporosis was significantly lower (OR = 0.6 [95 % CI: 0.4–0.9],  p  = 0.007). Among the carriers of the  VDR  ApaI C/C-genotype, the average BMD level was by 13.7 % lower compared to the carriers of the  VDR  ApaI A/A-genotype (0.767 and 0.872 g/cm 2 , respectively,  p  = 0.04); among individuals with the TaqI C/C-genotype, the BMD level was by 13.8 % lower compared to TaqI T/T-genotype bearers (0.803 and 0.914 g/cm2, respectively,  p  = 0.03).  VDR  gene polymorphism may play an important role in the susceptibility to osteoporosis and is significantly associated with the BMD level in postmenopausal women.

Association of vitamin D receptor gene polymorphism with a bone mineral density level in postmenopausal women