Vitamin D receptor gene Fok1 polymorphism predicts calcium absorption and bone mineral density in children
Vitamin D receptor gene Fok1 polymorphism predicts calcium absorption and bone mineral density in children
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DOI：
10.1359/jbmr.1999.14.5.740
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发表时间：
1999-05-01
影响因子：
6.2
通讯作者：
Abrams, SA
中科院分区：
文献类型：
--
作者：
Ames, SK;Ellis, KJ;Abrams, SA
维生素D受体（VDR）基因被认为是骨质疏松症的主要遗传成分之一。我们评估了72名7-12岁健康儿童的矿物质状态标志物与VDR基因限制性片段长度多态性之间的关系。采用稳定同位素技术和双能X线吸收法测定了膳食钙吸收率、骨钙沉积率和全身骨密度。VDR翻译起始位点Fok 1基因多态性与骨密度显著相关（p = 0.02）和钙吸收（p = 0.04），FF纯合子儿童的平均钙吸收比ff纯合子儿童高41.5%，比ff纯合子儿童高17%。比Ff杂合子更大的吸收。FF基因型的BMD比ff基因型高8.2%，比Ff基因型高4.8%。这些结果表明VDR基因与骨代谢在一个或多个水平上存在实质性关系，包括生长期儿童的膳食钙吸收和BMD。
The vitamin D receptor (VDR) gene has been implicated as one of the major genetic components of osteoporosis. We evaluated the relationship between markers of mineral status and restriction fragment length polymorphisms of the VDR gene in 72 healthy children age 7-12 years. Using stable isotope techniques and dual-energy X-ray absorptiometry, we measured dietary calcium absorption, bone calcium deposition rates, and total body bone mineral density (BMD), The Fok1 polymorphism at the VDR translation initiation site was significantly associated with BMD (p = 0.02) and calcium absorption (p = 0.04), Children who were FF homozygotes had a mean calcium absorption that was 41.5% greater than those who were ff homozygotes and 17% greater absorption than Ff heterozygotes. BMD was 8.2% greater in the FF genotype than the ff genotype and 4.8% higher than the Ff genotype, These results suggest a substantial relationship between the VDR gene and bone metabolism at one or more levels, including dietary absorption of calcium and BMD in growing children.