Influence of the vitamin D receptor gene alleles on bone mineral density in postmenopausal and osteoporotic women.

It is well established that genetic factors contribute to bone turnover and bone density. Evidence exists suggesting that a major part of this genetic influence may be due to polymorphisms in the vitamin D receptor (VDR) gene. However, it is not clear whether the VDR genotype effect persists in elderly women. In the present study, the relationship between the BsmI, ApaI, and TaqI polymorphisms in the VDR gene, and the bone mineral density (BMD) at the lumbar spine, the femoral neck (FN), and the proximal radius was investigated in a large group of elderly women (75.5 +/- 5.0 years) of Caucasian origin and in 84 Type I osteoporotic women (66.6 +/- 8.4 years). We did not find a correlation between the VDR genotypes and BMD in elderly women. However, a significantly higher FN-BMD was observed in obese (body mass index [BMI] > 30 kg/m2) versus nonobese (BMI < 30 kg/m2) women (p < 0.01). This relationship was observed for all BsmI genotypes. Furthermore, the FN-BMD of nonobese women with bb BsmI genotype was 5% higher than that of women with the BB genotype (p = 0.04). We conclude that the VDR gene polymorphisms influence the FN-BMD in nonobese postmenopausal women. In a second part of the study, possible correlations between the VDR gene polymorphisms and osteoporosis Type I were analyzed. Our data could not reveal any association between these parameters.