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Associations of polymorphisms in the vitamin D receptor gene (BsmI and FokI) with bone mineral density in postmenopausal women in Malta

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Abstract

Previous studies have suggested that variations in the vitamin D receptor (VDR) gene are related to bone mineral density (BMD). In this study, the T→C transition in the start codon and the G→A polymorphism at the 3′ end of the VDR gene, identified by endonucleases FokI and BsmI, respectively, were analysed and correlated with BMD in postmenopausal Maltese women (n=104). Genotype frequencies observed for the VDR start codon polymorphism (SCP) were CC: 60.4%; CT: 30.7% and TT: 8.9%, while those observed for the 3′ in this study were GG: 16.4%; GA: 51.9%; AA: 31.7%. In postmenopausal women, both lumbar and femoral BMD were observed to be highest in CC homozygotes for the FokI genotype and in GG homozygotes for the BsmI genotype, although in both groups the difference between the genotypes was not statistically significant, even after adjusting BMD for age, BMI and years since menopause. No evidence of linkage disequilibrium between the two alleles was observed.

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Acknowledgements

We thank Ms. Doreen Micallef for her assistance in collecting patients’ samples, Professor A.E. Felice for the use of the facilities available at the Laboratory of Molecular Genetics, University of Malta, Ms. Carmen Micallef and Ms. Vanessa Pace for their assistance at the Bone Density Unit, St Luke’s Hospital, Malta. This work was supported by the Research Fund Committee, University of Malta.

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Authors and Affiliations

  1. Department of Pathology, University of Malta Medical School, Malta

    C. Vidal, C. Grima & A. Xuereb-Anastasi

  2. Department of Obstetrics and Gynaecology, St Luke’s Hospital, Malta

    M. Brincat & N. Megally

  3. Institute of Health Care, University of Malta, Malta

    C. Vidal & A. Xuereb-Anastasi

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  1. C. Vidal
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  2. C. Grima
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  3. M. Brincat
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  5. A. Xuereb-Anastasi
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Correspondence to A. Xuereb-Anastasi.

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Vidal, C., Grima, C., Brincat, M. et al. Associations of polymorphisms in the vitamin D receptor gene (BsmI and FokI) with bone mineral density in postmenopausal women in Malta. Osteoporos Int 14, 923–928 (2003). https://doi.org/10.1007/s00198-003-1457-5

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  • DOI: https://doi.org/10.1007/s00198-003-1457-5

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