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Association between bone mineral density and polymorphisms of the VDR, ERα, COL1A1 and CTR genes in Spanish postmenopausal women

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Abstract

Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component, and several candidate gene polymorphisms have been implicated in the regulation of this process. In view of the reported associations between the BMD and polymorphisms in the collagen type I a 1 gene (COL1A1), vitamin D receptor (VDR), estrogen receptor (ER)a and calcitonin receptor (CTR) genes, an association study was performed between VDR, COL1A1, CTR and ER genotypes and lumbar spine, femoral neck and Wards triangle BMD in postmenopausal Spanish women. We statistically controlled for many confounding factors, such as height, weight, age, years since menopause, use of hormone replacement therapy (HRT), tobacco consumption, use of oral contraceptives, calcium dietary intake or exercise practice. No association between COL1A1 or ER genotypes and BMD was detected. However, we described a statistically significant association between a personal history of fractures and COL1A1 genotype. The ss genotype was found to be over-represented be-tween those women who had a personal history of fractures. The analyses of the VDR polymorphisms showed that FF subjects reached the highest values of BMD at the three measured sites, whereas Ff individuals had an intermediate BMD and ff women had the lowest values. However, the VDR-BsmI gene polymorphism was not found to be associated with adjusted BMD. For the CTR poly-morphisms, our study showed that women with the aa genotype had a lower adjusted BMD at the femoral neck. In conclusion, in our postmenopau-sal Spanish women cohort we found a statistically significant association beteween the VDR and CTR gene polymorphisms and the BMD. However, we did not find any association between the ER and COL1A1 gene and the BMD. The COL1A1 gene was found to be associated with the prevalence of osteoporotic fractures. Of all the studied gene polymorphisms, the FokI VDR gene polymorphism seems to be the strongest BMD genetic determi-nant of postmenopausal Spanish women.

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Authors and Affiliations

  1. Laboratory of Biotechnology and Pharmacogenomics, Clinica Universitaria de Navarra, University of Navarra, Pamplona, Spain

    E. Bandrés PhD, M. González-Huarriz, A. Rebollo & J. García-Foncillas

  2. Department of Obstetrics and Gynecology, Clinica Universitaria de Navarra, University of Navarra, Pamplona, Spain

    I. Pombo & G. López

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  1. E. Bandrés PhD
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  2. I. Pombo
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  3. M. González-Huarriz
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  6. J. García-Foncillas
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Correspondence to E. Bandrés PhD.

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Bandrés, E., Pombo, I., González-Huarriz, M. et al. Association between bone mineral density and polymorphisms of the VDR, ERα, COL1A1 and CTR genes in Spanish postmenopausal women. J Endocrinol Invest 28, 312–321 (2005). https://doi.org/10.1007/BF03347196

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