Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures
Article first published online: 24 DEC 2001
European Journal of Clinical Investigation
Volume 30, Issue 7, pages 608–617, July 2000
How to Cite
Langdahl, Gravholt, Brixen and Eriksen (2000), Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures. European Journal of Clinical Investigation, 30: 608–617. doi: 10.1046/j.1365-2362.2000.00686.x
- Issue published online: 24 DEC 2001
- Article first published online: 24 DEC 2001
- Cited By
- Bone mass;
- bone turnover;
- vitamin D receptor
Vitamin D is essential for normal bone metabolism. Polymorphisms in exon 2, intron 8 and exon 9 of the vitamin D receptor (VDR) gene have previously been found to be associated with bone mass and bone turnover.
Materials and methods
We examined the effect of these polymorphisms, separately and in combination, on bone mineral density (BMD), bone turnover, and the prevalence of osteoporotic fractures in 192 osteoporotic patients and 207 normal controls. The four polymorphisms were determined by RFLP using Fok I (T2-C), Bsm I (intron 8), Apa I (intron 8) and Taq I (T1055-C) after PCR.
We did not find any association between the Fok I polymorphism and bone mass, bone turnover or prevalence of osteoporotic fractures. We found that BB + Bb-genotypes were more frequent in patients with osteoporotic fractures (χ2 = 3.50, P = 0.06). Furthermore, BMD of the intertrochanteric region (P < 0.0001, anova) as well as the total hip (P < 0.01, anova) were higher in individuals with the bb-genotype. The Apa I and the Taq I polymorphisms were not distributed differently among osteoporotic patients and normal controls. Apa I was not associated with differences in BMD. BMD of the intertrochanteric region was higher in individuals with the TT-genotype compared with individuals with the Tt- or tt-genotypes (P < 0.01, anova), while no differences could be demonstrated in BMD of the lumbar spine, femoral neck, trochanter or Wards triangle. Combining the genotypes generally reflected the differences caused by the Bsm I polymorphism.
We have found that the B-allele of the Bsm I polymorphism in the 3′ untranslated region of the VDR was associated with low BMD at the hip, and tended to be associated with osteoporotic fractures. The translation initiation polymorphism in the VDR does not affect BMD and is not associated with osteoporotic fractures in men or women.