Osteoporosis International

, Volume 19, Issue 6, pp 787–792

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

  • C. Valero
  • J. L. Pérez-Castrillón
  • M. T. Zarrabeitia
  • J. L. Hernández
  • M. A. Alonso
  • J. del Pino-Montes
  • J. M. Olmos
  • J. González-Macías
  • J. A. Riancho
Original Article

DOI: 10.1007/s00198-007-0491-0

Cite this article as:
Valero, C., Pérez-Castrillón, J.L., Zarrabeitia, M.T. et al. Osteoporos Int (2008) 19: 787. doi:10.1007/s00198-007-0491-0

Abstract

Summary

Two polymorphisms of the aromatase and estrogen receptor genes appeared to interact to influence the risk of hip fractures in women.

Introduction

Allelic variants of the aromatase gene have been associated with bone mineral density and vertebral fractures. Our objective was to analyze the relationship between two polymorphisms of the aromatase and estrogen receptor genes and hip fractures.

Methods

We studied 498 women with hip fractures and 356 controls. A C/G polymorphism of the aromatase gene and a T/C polymorphism of the estrogen receptor α gene were analyzed using Taqman assays. Aromatase gene expression was determined in 43 femoral neck samples by real-time RT-PCR.

Results

There were no significant differences in the overall distribution of genotypes between the fracture and control groups. However, among women with a TT genotype of the estrogen receptor, the CC aromatase genotype was more frequent in women with fractures than in controls (39 vs. 23%, p = 0.009). Thus, women homozygous for T alleles of estrogen receptor and C alleles of aromatase were at increased risk of fracture (odds ratio 2.0; 95% confidence interval 1.2–3.4). The aromatase polymorphism was associated with RNA levels in bone tissue, which were three times lower in samples with a CC genotype (p = 0.009).

Conclusions

These common polymorphisms of the aromatase and estrogen receptor genes appear to interact, influencing the risk of hip fractures in women.

Keywords

AromataseEstrogen receptorHip fracturesOsteoporosisPolymorphisms

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2007

Authors and Affiliations

  • C. Valero
    • 1
  • J. L. Pérez-Castrillón
    • 2
  • M. T. Zarrabeitia
    • 3
  • J. L. Hernández
    • 1
  • M. A. Alonso
    • 4
  • J. del Pino-Montes
    • 5
  • J. M. Olmos
    • 1
  • J. González-Macías
    • 1
  • J. A. Riancho
    • 1
  1. 1.Department of Internal Medicine, Hospital U.M. ValdecillaUniversity of CantabriaSantanderSpain
  2. 2.Department of Internal Medicine, Hospital U. Río HortegaUniversity of ValladolidValladolidSpain
  3. 3.Unit of Legal MedicineUniversity of CantabriaSantanderSpain
  4. 4.Department of Traumatology, Hospital U.M. ValdecillaUniversity of CantabriaSantanderSpain
  5. 5.Department of Internal Medicine, Hospital U. Virgen de la VegaUniversity of SalamancaSalamancaSpain