Association of BsmI vitamin-D receptor gene polymorphism with combined bone mass in spine and proximal femur in Icelandic women.

Abstract

To evaluate whether there is an association between BsmI-vitamin-D receptor (VDR) gene polymorphism and combined bone mass in the spine and proximal femur in a group of adult Icelandic women with high and low bone mineral density (BMD). Comparison of distribution of VDR genotypes (BB, Bb and bb) and allele frequency (B and b) in two groups of women: a group with 'strong bones' with high BMD in both the spine and proximal femur (> 1 standard deviation [SD]) above the age-matched mean (n = 35) and a group with 'weak bones' with BMD > 1.5 SD below the age-matched mean at both sites using dual energy X-ray absorptiometry. Iceland, a population with a mean calcium intake > 1000 mg day-1. The calcium intake in the study group was however not evaluated. Eighty-three Icelandic women, aged 22-65, free of diseases affecting bone and not taking drugs affecting calcium or bone metabolism, recruited from women undergoing bone densitometry at the Reykjavik Hospital. Frequency of VDR genotypes and alleles in the two groups. The distribution of VDR genotypes was significantly different in the two groups (P < 0.01); the b allele frequency was 70% in the group with high BMD compared to 48.5% in the group with low BMD. In this selected group of adult Icelandic women the b allele in the vitamin-D receptor gene seems to be associated with high bone mass in the spine and proximal femur.