Oestrogen receptor alpha genotype, and interactions between vitamin D receptor and transforming growth factor-beta1 genotypes are associated with quantitative calcaneal ultrasound in postmenopausal women

Clin Endocrinol (Oxf). 2004 Feb;60(2):232-40. doi: 10.1046/j.1365-2265.2003.01972.x.


Objective: Quantitative ultrasound (QUS) of bone is a new radiation-free, low-cost method that measures both bone mass and quality. We investigated associations between QUS parameters and polymorphisms of vitamin D receptor (VDR), oestrogen receptor alpha (ERalpha) and transforming growth factor-beta1 (TGF-beta1) genes in postmenopausal women residing in a community.

Design: QUS and anthropometric characteristics were measured in postmenopausal women, and compared with regard to the VDR, ERalpha and TGF-beta1 genotypes.

Patients: Among the 552 women who participated in the population-based Chung-Up osteoporosis prevalence study, 206 postmenopausal women, aged 60-69 years, were included.

Measurements: Broadband ultrasound attenuation (BUA) and speed of sound (SOS) were measured at the left calcaneus using QUS measurement of bone, and a stiffness index (SI) was calculated. We determined the BsmI and FokI polymorphisms of VDR gene and the XbaI and PvuII polymorphisms of ERalpha gene using the polymerase chain reaction-restriction fragment length polymorphism method, and Tau29 --> C polymorphism of TGF-beta1 gene using an allele-specific polymerase chain reaction assay.

Results: The XbaI polymorphism of ERalpha gene was significantly associated with SI (T-score) and BUA (P = 0.040 and P = 0.024, respectively). There were no significant differences in any QUS parameters among the genotypes of VDR and TGF-beta1. However, significant genetic interactions between the VDR and TGF-beta1 genotypes, were noted (P = 0.017 for SI and P = 0.028 for BUA between the BsmI and Tau29 --> C polymorphisms; P = 0.038 for SI and P = 0.035 for BUA between the FokI and T29 --> C polymorphisms). The combined genotypes between the BsmI and T29 --> C polymorphisms or between the FokI and T29 --> C polymorphisms, were significantly associated with the QUS parameters.

Conclusions: This study indicates that the XbaI polymorphism of ERalpha gene may influence the Quantitative ultrasound parameters in postmenopausal women, and suggests the need for further investigations about the interactions between the VDR and TGF-beta1 genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Calcaneus / diagnostic imaging*
  • Estrogen Receptor alpha
  • Female
  • Genotype
  • Humans
  • Middle Aged
  • Phenotype
  • Polymorphism, Genetic*
  • Postmenopause / metabolism*
  • Receptors, Calcitriol / genetics*
  • Receptors, Estrogen / genetics*
  • Transforming Growth Factor beta / genetics*
  • Ultrasonography


  • Estrogen Receptor alpha
  • Receptors, Calcitriol
  • Receptors, Estrogen
  • Transforming Growth Factor beta