Abstract

OBJECTIVES Polymorphism of the vitamin D receptor (VDR), collagen α I type I (Col I αI), 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.

METHODS AND SUBJECTS The relation between genotypes of VDR gene (Taq I, Bsm I, Fok I), Col I αI 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.

RESULTS 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 αI gene (Msc I), or ER gene (Pvu II) and BMD or growth variables.

CONCLUSIONS 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.