Laaksonen Marika, Kärkkäinen Merja, Outila Terhi, Vanninen Tarja, Ray Carola, Lamberg-Allardt Christel
Calcium Research Unit, Division of Nutrition, Department of Applied Chemistry and Microbiology, University of Helinski, Finland.
J Bone Miner Metab. 2002;20(6):383-90. doi: 10.1007/s007740200055.
Bone mineral density (BMD) is regulated by genetic and environmental factors. Sixty percent to 80% of bone mass is suggested to be under polygenetic control, but the role of individual genes seems to be modest. Several studies have indicated that the vitamin D receptor ( VDR) gene has a role in the regulation of BMD and bone metabolism, but the results are very controversial. We studied the associations between BsmI-polymorphism of the VDR gene and BMD and bone metabolism in 24 premenopausal (aged 22-45 years) and 69 postmenopausal (aged 48-65 years) Finnish women. The BMD of the lumbar spine and femoral neck and bone turnover markers were measured, and the intestinal calcium absorption was investigated, using a method based on the absorption of non-radioactive strontium. The genotype distribution was 16%, BB; 34.5%, Bb; and 49.5%, bb, which differs from the genotype distribution found in other Caucasian populations, but is similar to earlier Finnish reports. The winter value of 25-hydroxyvitamin-D (25-OH-D) was highest for the BB genotype in both age groups (analysis of covariance [ANCOVA]; premenopausal women P = 0.5, postmenopausal women P = 0.03, and for the groups combined P = 0.02). Lumbar spine BMD and intestinal strontium absorption were highest for the BB genotype in both age groups, but these results were nonsignificant. The markers of bone metabolism did not differ significantly between the VDR genotypes. The BB genotype had the best vitamin D status, which could explain the differences in calcium absorption between the genotypes. However, the conclusions of our study are limited because of the small number of subjects.
骨矿物质密度(BMD)受遗传和环境因素调控。据推测,60%至80%的骨量受多基因控制,但单个基因的作用似乎不大。多项研究表明,维生素D受体(VDR)基因在BMD和骨代谢的调节中起作用,但结果极具争议性。我们研究了24名绝经前(年龄22 - 45岁)和69名绝经后(年龄48 - 65岁)芬兰女性中VDR基因的BsmI多态性与BMD和骨代谢之间的关联。测量了腰椎和股骨颈的BMD以及骨转换标志物,并采用基于非放射性锶吸收的方法研究了肠道钙吸收情况。基因型分布为:BB占16%;Bb占34.5%;bb占49.5%,这与其他白种人群中发现的基因型分布不同,但与芬兰早期报告相似。在两个年龄组中,BB基因型的25 - 羟基维生素D(25 - OH - D)冬季值最高(协方差分析[ANCOVA];绝经前女性P = 0.5,绝经后女性P = 0.03,两组合并P = 0.02)。在两个年龄组中,BB基因型的腰椎BMD和肠道锶吸收最高,但这些结果无统计学意义。VDR基因型之间的骨代谢标志物无显著差异。BB基因型具有最佳的维生素D状态,这可以解释基因型之间钙吸收的差异。然而,由于研究对象数量较少,我们研究的结论受到限制。