Jørgensen H L, Schøller J, Sand J C, Bjuring M, Hassager C, Christiansen C
Den Danske Forskningsfond, Ballerup.
Ugeskr Laeger. 1998 Jan 26;160(5):648-53.
The aim of this study was to determine whether common allelic variation at the vitamin D receptor locus is related to bone mineral density and postmenopausal bone loss. Five hundred and ninety-nine healthy women aged 27 to 72 and 125 women with low bone mass aged 55-77 were measured once in a cross-sectional design. Furthermore, 136 women aged 45-54 were followed longitudinally for 18 years. The vitamin D receptor genotypes were determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis for three different polymorphic restriction sites (BsmI, ApaI and TaqI). Bone mineral density was measured by photon and X-ray absorptiometry. The cross-sectional study showed no significant relationship between vitamin D receptor genotype and bone mineral density. The maximum difference between homozygotes was 1.3%, P = 0.33, N = 723. The low bone mineral density group had virtually the same genotype frequencies as the normal bone mineral density group. The results of the longitudinal study showed that vitamin D receptor genotype was neither related to early postmenopausal bone loss: age 51-53 (total bone loss at the lower forearm: -3.6% [3.6%], mean [standard deviation]), late postmenopausal bone loss: age 63-69 (total bone loss at the hip: -6.2% [8.7%]) nor to long term postmenopausal bone loss: age 51-69 (total bone loss at the lower forearm: -24.5% [11.4%]). Using analysis of variance to test for differences in the rates of bone loss between the vitamin D receptor genotypes, P values ranged from 0.07 to 0.79. We conclude that common allelic variation at the vitamin D receptor locus as defined by the endonucleases ApaI, BsmI and TaqI is neither related to bone mineral density nor to the rate of bone loss in healthy postmenopausal Danish women.
本研究的目的是确定维生素D受体基因座的常见等位基因变异是否与骨矿物质密度及绝经后骨质流失有关。采用横断面设计，对599名年龄在27至72岁的健康女性和125名年龄在55 - 77岁的低骨量女性进行了一次测量。此外，对136名年龄在45 - 54岁的女性进行了为期18年的纵向随访。使用聚合酶链反应-限制性片段长度多态性分析，针对三个不同的多态性限制性位点（BsmI、ApaI和TaqI）确定维生素D受体基因型。通过光子和X射线吸收测定法测量骨矿物质密度。横断面研究表明，维生素D受体基因型与骨矿物质密度之间无显著关系。纯合子之间的最大差异为1.3%，P = 0.33，N = 723。低骨矿物质密度组的基因型频率与正常骨矿物质密度组几乎相同。纵向研究结果表明，维生素D受体基因型与绝经后早期骨质流失（年龄51 - 53岁：前臂下部总骨量流失：-3.6% [3.6%]，均值[标准差]）、绝经后晚期骨质流失（年龄63 - 69岁：髋部总骨量流失：-6.2% [8.7%]）均无关，与绝经后长期骨质流失（年龄51 - 69岁：前臂下部总骨量流失：-24.5% [11.4%]）也无关。使用方差分析来检验维生素D受体基因型之间骨量流失率的差异，P值范围为0.07至0.79。我们得出结论，由内切酶ApaI、BsmI和TaqI定义的维生素D受体基因座的常见等位基因变异，与健康绝经后丹麦女性的骨矿物质密度及骨量流失率均无关。
