Tao C, Yu T, Garnett S, Briody J, Knight J, Woodhead H, Cowell C T
Robert Vines Growth Research Centre, New Children's Hospital, Parramatta, NSW, Australia.
Arch Dis Child. 1998 Dec;79(6):488-93; discussion 493-4. doi: 10.1136/adc.79.6.488.
Polymorphism of the vitamin D receptor (VDR), collagen alpha I type I (Col I alpha I), and oestrogen receptor (ER) genes have been shown to account for some of the heritability of bone mineral density (BMD) in adults. This study examined this relation in prepubertal children.
The relation between genotypes of VDR gene (Taq I, Bsm I, Fok I), Col I alpha I gene (Msc I), and ER gene (Pvu II) with areal BMD, volumetric BMD, and growth were examined in 114 (68 girls) healthy 7 year old, white children.
The genotype of the VDR gene (Taq I) correlated with lumbar spine (L1-4) volumetric BMD in girls only, but at no other bone sites. In girls, VDR genotype affected areal BMD at all sites. After adjusting for height and weight, however, this effect was explained completely by the independent effect of the VDR genotype on growth. Girls with genotype TT, were 3.9 kg heavier and 4.1 cm taller than those with tt, but this relation was not present at birth. No relation was found between genotypes of the VDR gene (Fok I), Col I alpha I gene (Msc I), or ER gene (Pvu II) and BMD or growth variables.
In prepubertal girls, VDR alleles contribute to lumbar spine volumetric BMD variance, but the areal BMD effect reflects the relation between areal BMD and growth. VDR alleles might affect postnatal growth regulation.
维生素D受体(VDR)、I型胶原蛋白α1(Col Iα1)和雌激素受体(ER)基因的多态性已被证明可解释成年人骨密度(BMD)的部分遗传力。本研究在青春期前儿童中检验了这种关系。
在114名(68名女孩)7岁健康白人儿童中,研究了VDR基因(Taq I、Bsm I、Fok I)、Col Iα1基因(Msc I)和ER基因(Pvu II)的基因型与面积骨密度、体积骨密度及生长之间的关系。
仅在女孩中,VDR基因(Taq I)的基因型与腰椎(L1 - 4)体积骨密度相关,在其他骨部位则无此关联。在女孩中,VDR基因型影响所有部位的面积骨密度。然而,在调整身高和体重后,这种影响完全由VDR基因型对生长的独立作用所解释。基因型为TT的女孩比tt基因型的女孩重3.9千克,高4.1厘米,但这种关系在出生时不存在。未发现VDR基因(Fok I)、Col Iα1基因(Msc I)或ER基因(Pvu II)的基因型与骨密度或生长变量之间存在关联。
在青春期前女孩中,VDR等位基因对腰椎体积骨密度变异有贡献,但面积骨密度效应反映了面积骨密度与生长之间的关系。VDR等位基因可能影响出生后的生长调节。