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Conflicting results have been reported on the association between restriction fragment length polymorphisms (RFLPs) at the vitamin D receptor (VDR) gene locus (i.e., for BsmI, ApaI, and TaqI) and bone mineral density (BMD). We analyzed this association in a large population-based sample (n = 1782) of men and women aged 55-80 years using a novel direct haplotyping polymerase chain reaction (PCR) test to monitor the three polymorphic sites simultaneously. The direct haplotyping test we developed demonstrated a larger degree of genetic polymorphism at the VDR gene locus than described until now. None of the individual RFLPs were associated with BMD at the proximal femur. By analyzing allele dose effects, we identified a VDR haplotype allele weakly associated with low BMD. This allele, as one representative of the group of b alleles, is different from the BsmI allele previously reported by other groups to be associated with low BMD. This suggests allelic heterogeneity at the VDR locus in relation to BMD. Our results indicate at most a small effect of the VDR genotype on BMD in this elderly population. Since anonymous polymorphisms were analyzed, alternative explanations for our results include linkage to another nearby bone-metabolism related gene.

Original publication




Journal article


Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Publication Date





1241 - 1248


Department of Internal Medicine III, Erasmus University Medical School, Rotterdam, The Netherlands.


Femur, Humans, Receptors, Calcitriol, Absorptiometry, Photon, Analysis of Variance, Cohort Studies, Prospective Studies, Polymerase Chain Reaction, Aging, Bone Density, Polymorphism, Restriction Fragment Length, Alleles, Aged, Aged, 80 and over, Middle Aged, Female, Male