Gunnes M, Berg J P, Halse J, Lehmann E H
Center for Clinical Osteoporosis Research, Haugesund, Norway.
J Clin Endocrinol Metab. 1997 Mar;82(3):851-5. doi: 10.1210/jcem.82.3.3814.
Recent studies have suggested that genetic effects on bone mineral density (BMD) are related to allelic variation in the vitamin D receptor (VDR) gene. We examined 1) allelic influences of the VDR gene on BMD of the forearm, spine, hip, and whole body; and 2) allelic influences of the VDR gene on forearm BMD gain. Two hundred and seventy-three healthy boys and girls, aged 8.2-16.5 yr, at baseline were eligible. Forearm BMD was assessed with single photon absorptiometry at baseline. BMD gain was calculated as the annual percent change in BMD measured by single photon absorptiometry from the baseline and after 3.8 +/- 0.1 (+/-SD) yr. Calcium intake and physical activity were assessed by a detailed questionnaire at baseline and after 1 yr. VDR alleles were determined by BsaMI endonuclease restriction fragment analysis after PCR amplification. No significant differences in forearm BMD gain or in BMD assessed at the forearm, spine, hip, and whole body were observed among the three VDR genotypes. These findings did not change after adjusting for environmental factors such as calcium intake and physical activity or age, weight, height, and changes in weight and height during the observation period. In conclusion, our data do not support the idea that VDR genotypes are related to BMD gain or to BMD at the forearm, hip, spine, and whole body in healthy boys and girls, aged 8-21 yr. VDR genotyping is probably of little use for the detection of individuals who would benefit from increased calcium and physical activity to increase their peak bone densities.
近期研究表明,基因对骨密度(BMD)的影响与维生素D受体(VDR)基因的等位基因变异有关。我们研究了:1)VDR基因的等位基因对前臂、脊柱、髋部和全身骨密度的影响;以及2)VDR基因的等位基因对前臂骨密度增加的影响。共有273名年龄在8.2 - 16.5岁的健康男孩和女孩符合基线条件。在基线时采用单光子吸收法评估前臂骨密度。骨密度增加量计算为通过单光子吸收法测量的骨密度从基线开始以及在3.8±0.1(±标准差)年后的年变化百分比。在基线和1年后通过详细问卷评估钙摄入量和身体活动情况。通过PCR扩增后用BsaMI内切酶限制性片段分析确定VDR等位基因。在三种VDR基因型之间,未观察到前臂骨密度增加量或在前臂、脊柱、髋部和全身评估的骨密度存在显著差异。在对环境因素(如钙摄入量和身体活动)或年龄、体重、身高以及观察期内体重和身高的变化进行调整后,这些结果并未改变。总之,我们的数据不支持VDR基因型与8 - 21岁健康男孩和女孩的骨密度增加或前臂、髋部、脊柱和全身骨密度相关的观点。VDR基因分型对于检测那些可能从增加钙摄入和身体活动以提高其峰值骨密度中获益的个体可能用处不大。