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

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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.

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Acknowledgements

Robin Rycroft provided editorial assistance. M.B. is the recipient of a fellowship from the Spanish Ministerio de Ciencia y Tecnología. This study was supported by grants from: the Spanish Ministerio de Ciencia y Tecnología (PM1999-0131-C02-01 y -02); the Spanish Ministerio de Educación y Ciencia (SAF2004-06085); the European Commission (GENOMOS Project; grant QLRT-2001-02629); the Spanish Ministerio de Sanidad (FIS 98/1952); and the Catalan Departament de Universitats, Recerca I Societat de la Informació (2005SGR 00762 and 2005SGR 00848).

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Authors and Affiliations

  1. Department of Genetics, Universitat de Barcelona, Barcelona, Spain

    M. Bustamante, N. García-Giralt, S. Balcells & D. Grinberg

  2. Internal Medicine, URFOA, IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

    X. Nogués, A. Enjuanes, L. Mellibovsky & A. Díez-Pérez

  3. URLEC, URFOA, IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

    R. Elosua

  4. Department of Rheumatology, URFOA, IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

    L. Pérez-Edo

  5. Department of Traumatology and Orthopedics, URFOA, IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

    E. Cáceres

  6. Department of Obstetrics and Gynecology, URFOA, IMIM, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain

    R. Carreras

  7. Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal, 645, 08028, Barcelona, Spain

    D. Grinberg

Authors
  1. M. Bustamante
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  2. X. Nogués
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  3. A. Enjuanes
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  4. R. Elosua
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  5. N. García-Giralt
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  6. L. Pérez-Edo
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  7. E. Cáceres
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  9. L. Mellibovsky
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  10. S. Balcells
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  11. A. Díez-Pérez
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  12. D. Grinberg
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Corresponding author

Correspondence to D. Grinberg.

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Bustamante, M., Nogués, X., Enjuanes, A. et al. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporos Int 18, 235–243 (2007). https://doi.org/10.1007/s00198-006-0225-8

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  • DOI: https://doi.org/10.1007/s00198-006-0225-8

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