Salamone L M, Ferrell R, Black D M, Palermo L, Epstein R S, Petro N, Steadman N, Kuller L H, Cauley J A
Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, PA 15261, USA.
Osteoporos Int. 1996;6(1):63-8. doi: 10.1007/BF01626540.
The genetic influence on bone mineral density (BMD) is thought to be mediated in part by alleles at the vitamin D receptor (VDR) locus. In order to assess the effect of VDR on BMD in premenopausal women, we studied 470 healthy white subjects, aged 44-50 years, participating in the Women's Healthy Lifestyle Project. Each participant was genotyped for the BsmI polymorphism at the VDR gene locus. BMD at the lumbar spine, hip and whole-body, and the whole-body soft tissue composition, were measured cross-sectionally using a Hologic QDR 2000 densitometer. The presence of a polymorphic restriction site at the VDR gene locus was specified as b, whereas absence of this site was B. The frequency distribution of the VDR genotype was: bb, 20.6%; Bb, 39.1%; and BB, 40.2%. Spinal BMD (mean +/- SD) was significantly lower in women with VDR genotype BB (1.038 +/- 0.11 g/cm2) as compared with those with genotype bb (1.069 +/- 0.12 g/cm2, p < 0.05). Trochanter BMD was 2.7% lower in those with genotype BB versus bb (0.685 +/- 0.10 g/cm2 vs 0.708 +/- 0.09 g/cm2). A similar trend was shown at each subregion of the hip, but not at the whole-body. In premenopausal women, allelic status at the VDR locus contributed to variations in spinal and trochanteric BMDs, but the absolute difference in BMDs was small, amounting to 0.26 and 0.23 standard deviations, respectively. It is concluded that in this population of healthy premenopausal women there was a significant association between polymorphisms at the VDR gene locus and both spinal and trochanteric BMDs, yet no association was demonstrated for the whole-body BMD.
基因对骨密度（BMD）的影响被认为部分是由维生素D受体（VDR）基因座上的等位基因介导的。为了评估VDR对绝经前女性骨密度的影响，我们研究了参与女性健康生活方式项目的470名年龄在44 - 50岁的健康白人受试者。对每个参与者的VDR基因座进行BsmI多态性基因分型。使用Hologic QDR 2000骨密度仪对腰椎、髋部和全身的骨密度以及全身软组织成分进行横断面测量。VDR基因座上存在多态性限制性位点被指定为b，而不存在该位点则为B。VDR基因型的频率分布为：bb，20.6%；Bb，39.1%；BB，40.2%。VDR基因型为BB的女性（1.038±0.11 g/cm²）的脊柱骨密度（平均值±标准差）显著低于基因型为bb的女性（1.069±0.12 g/cm²，p < 0.05）。基因型为BB的人群转子骨密度比基因型为bb的人群低2.7%（0.685±0.10 g/cm²对0.708±0.09 g/cm²）。髋部的每个亚区域都呈现出类似趋势，但全身骨密度未呈现该趋势。在绝经前女性中，VDR基因座的等位基因状态导致脊柱和转子骨密度的变化，但骨密度的绝对差异较小，分别相当于0.26和0.23个标准差。研究得出结论，在这群健康的绝经前女性中，VDR基因座的多态性与脊柱和转子骨密度之间存在显著关联，但未发现与全身骨密度有关联。
