Journal of Bone and Mineral Metabolism

, Volume 24, Issue 4, pp 329–336 | Cite as

Vitamin D and estrogen receptor-α genotype and indices of bone mass and bone turnover in Danish girls

  • Siobhan Cusack
  • Christian Mølgaard
  • Kim F. Michaelsen
  • Jette Jakobsen
  • Christel J.E. Lamberg-Allardt
  • Kevin D. Cashman


Peak bone mass is a major determinant of osteoporosis risk in later life. It is under strong genetic control; however, little is known about the identity of the genes involved. In the present study, we investigated the relationship between polymorphisms in the genes encoding the vitamin D receptor (VDR) (FokI, TaqI) and estrogen receptor-α (ERα) (PvuII, XbaI), and bone mineral density (BMD), bone mineral content (BMC), and markers of bone turnover in 224 Danish girls aged 11–12 years. BMD and BMC were measured by dual-energy X-ray absorptiometry. Serum osteocalcin, 25(OH)D, and parathyroid hormone (PTH) were measured by ELISA assays and urinary pyridinium cross-links by HPLC. Physical activity, dietary calcium, and Tanner stage were assessed by questionnaire. In general, there were no significant differences in anthropometrical variables, physical activity, dietary calcium, serum 25(OH)D, or PTH among genotype groups. BMD or BMC of lumbar spine or whole body (adjusted for body and bone size and pubertal status) were not associated with VDR or ERα genotypes or the combination of these genotypes. This lack of association remained even after adjustment for dietary and environmental factors. VDR genotypes had no effect on bone turnover markers. XX and PP ERα genotypes were associated (P < 0.05) with reduced levels of urinary pyridinium cross-links, whereas serum osteocalcin was similar among genotypes. These findings suggest that the rate of bone resorption was influenced by ERα genotypes, even though these biochemical differences were not evident in bone mass indices.

Key words

vitamin D receptor estrogen receptor genotype bone 


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Copyright information

© Springer-Verlag Tokyo 2006

Authors and Affiliations

  • Siobhan Cusack
    • 1
  • Christian Mølgaard
    • 2
  • Kim F. Michaelsen
    • 2
  • Jette Jakobsen
    • 3
  • Christel J.E. Lamberg-Allardt
    • 4
  • Kevin D. Cashman
    • 1
  1. 1.Department of Food and Nutritional Sciences, and Department of MedicineUniversity CollegeCorkIreland
  2. 2.Research Department of Human Nutrition, Centre for Advanced Food StudiesThe Royal Veterinary and Agricultural UniversityFrederiksbergDenmark
  3. 3.Danish Institute for Food and Veterinary ResearchSöborgDenmark
  4. 4.Calcium Research Unit, Department of Applied Chemistry and MicrobiologyUniversity of HelsinkiHelsinkiFinland

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