Osteoporosis International

, Volume 18, Issue 2, pp 235–243

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

  • M. Bustamante
  • X. Nogués
  • A. Enjuanes
  • R. Elosua
  • N. García-Giralt
  • L. Pérez-Edo
  • E. Cáceres
  • R. Carreras
  • L. Mellibovsky
  • S. Balcells
  • A. Díez-Pérez
  • D. Grinberg
Original Article

DOI: 10.1007/s00198-006-0225-8

Cite this article as:
Bustamante, M., Nogués, X., Enjuanes, A. et al. Osteoporos Int (2007) 18: 235. doi:10.1007/s00198-006-0225-8
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Abstract

Introduction and hypothesis

Genetic studies of osteoporosis have focused on analysing single polymorphisms in individual genes – with inconclusive results. An alternative approach may involve haplotypes and gene-gene interactions. The aim of the study was to test the association between the COL1A1, ESR1, VDR and TGFB1 polymorphisms or haplotypes and bone mineral density (BMD) in Spanish postmenopausal women.

Methods

Sixteen polymorphisms were analysed in 719 postmenopausal women. ANOVA, ANCOVA and Xi2 tests were used to perform the statistical analysis.

Results

COL1A1 -1997G > T (p = 0.04) and TGFB1 Leu10Pro (p = 0.02) were found to be associated with adjusted lumbar spine (LS) BMD. Interactions were observed between: the COL1A1 -1997 G/T and Sp1 polymorphisms (p < 0.01 for LS BMD) and the COL1A1 -1663 indelT and VDR ApaI polymorphisms (p < 0.01 for femoral neck (FN) BMD). The COL1A1 GDs and ESR1 LPX haplotypes were associated with FN BMD (p = 0.03 and p = 0.03).

Conclusions

Polymorphisms at COL1A1 and TGFB1 and haplotypes at COL1A1 and ESR1 were found to be associated with BMD in a cohort of postmenopausal Spanish women. Moreover, COL1A1 polymorphisms showed significant interactions among them and with the VDR 3′ polymorphisms.

Keywords

Association studiesBMDCollagenHaplotypeInteractionPolymorphism

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2006

Authors and Affiliations

  • M. Bustamante
    • 1
  • X. Nogués
    • 2
  • A. Enjuanes
    • 2
  • R. Elosua
    • 3
  • N. García-Giralt
    • 1
  • L. Pérez-Edo
    • 4
  • E. Cáceres
    • 5
  • R. Carreras
    • 6
  • L. Mellibovsky
    • 2
  • S. Balcells
    • 1
  • A. Díez-Pérez
    • 2
  • D. Grinberg
    • 1
    • 7
  1. 1.Department of GeneticsUniversitat de BarcelonaBarcelonaSpain
  2. 2.Internal MedicineURFOA, IMIM, Hospital del Mar, Universitat Autònoma de BarcelonaBarcelonaSpain
  3. 3.URLECURFOA, IMIM, Hospital del Mar, Universitat Autònoma de BarcelonaBarcelonaSpain
  4. 4.Department of RheumatologyURFOA, IMIM, Hospital del Mar, Universitat Autònoma de BarcelonaBarcelonaSpain
  5. 5.Department of Traumatology and OrthopedicsURFOA, IMIM, Hospital del Mar, Universitat Autònoma de BarcelonaBarcelonaSpain
  6. 6.Department of Obstetrics and GynecologyURFOA, IMIM, Hospital del Mar, Universitat Autònoma de BarcelonaBarcelonaSpain
  7. 7.Departament de Genètica, Facultat de BiologiaUniversitat de BarcelonaBarcelonaSpain