Correlation of vitamin D receptor gene (VDR) polymorphism with osteoporotic changes in Polish postmenopausal women

Recently the significance of genetic traits, influencing hormonal and environmental factors, in susceptibility to osteopenia and osteoporosis development has been indicated. Much attention to the polymorphic variants of vitamin D receptor (VDR) gene was paid. The restriction polymorphisms in VDR gene could be involved in the modulation of vitamin D action and modulate the level of bone mineral density (BMD) and the risk to develop osteopenia and osteoporosis.

Total 321 postmenopausal women (mean age 63.26 +/- 8.90 years), including women with osteoporosis (163 patients) and osteopenia (95) have been compared to 63 women with normal t-score value. For detection of VDR polymorphisms PCR/RFLP (polymerase chain reaction/restriction fragment length polymorphism) assay have been used.

The frequency of BsmI, ApaI, and TaqI polymorphic variants of VDR gene detected in investigated groups was not statistically different. The slight, not significant tendency to prevalence of a allele (ApaI polymorphism) in the controls comparing to women with osteoporosis and osteopenia have been noted. Higher prevalence of homozygous TT genotype (TaqI polymorphism) the in the both groups with lower BMD value (47.9 : 49.5 vs. 34.9% in the controls) and higher prevalence of T allele in these both groups (65.9 : 68.4 vs. 57.9) was been also observed.

The presence of T allele of TaqI polymorphism could predict the higher risk to develop osteoporosis in postmenopausal woman; consequently t allele could have protective effect. The presence of A allele (ApaI polymprphism) seems to be weakly connected with osteoporosis susceptibility.