The Contribution of Vitamin D Receptor Gene Polymorphisms in Osteoporosis and Familial Osteoporosis |
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Authors: | L Fountas P Moutsatsou I Kastanias N Tamouridis M Tzanela M Anapliotou C E Sekeris |
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Institution: | (1) Department of Biological Chemistry, GR;(2) Department of Pathophysiology, Medical School, National University of Athens, Greece, GR |
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Abstract: | It is well established that genetic factors play a major role in the pathogenesis of osteoporosis. Previous reports have
suggested that vitamin D receptor (VDR) gene polymorphisms, particularly the BB, tt and AA genotypes, are associated with
low bone mineral density (BMD). If these VDR genotypes are indeed an important determinant of BMD, then a population of related
osteoporotic individuals (mother–daughter or sister–sister relationship) should have a high prevalence of the BB, tt or AA
VDR genotypes. To test this hypothesis we determined the VDR genotypes in 26 osteoporotic persons (age 44.3 ± 12.7 years,
mean ± SD) belonging to 12 families. Furthermore, for comparison with existing studies, we applied the VDR genotype analysis
in a population of 53 unrelated healthy subjects (age 45.2 ± 9.8 years, mean ± SD) and 59 unrelated osteoporotic subjects
(age 52.1 ± 9.0 years, mean ± SD). The menopausal status of the healthy and osteoporotic populations was pre-, peri- and mostly
early postmenopausal. The proportions of the three genotypes, BB, tt and AA, within the 12 osteoporotic families were 15%,
12% and 27%, respectively, whereas the proportions of the other three homozygous genotypes (bb, TT, aa) were 50%, 50% and
23%. The distribution of the BB, tt and AA genotypes in the normal population was 21%, 21% and 36%, respectively (vs bb, TT,
aa: 36%, 38%, 21%), whereas in the osteoporotic population it was 24%, 20% and 34% (vs bb, TT, aa: 27%, 34%, 14%). Our data
indicate that there is not a statistically significant (p>0.05) difference in the VDR genotype frequencies within osteoporotic families as compared with the same genotypes in the
population of unrelated normal or osteoporotic subjects. VDR genotype analysis showed no significant relation between VDR
polymorphisms and BMD or Z-score values at the lumbar spine. This study demonstrates the lack of a heritability pattern between the BB, tt and AA genotypes
and low BMD.
Received: 29 October 1998 / Accepted: 19 April 1999 |
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Keywords: | :Bone mineral density – Familial osteoporosis – Osteoporosis – Polymorphisms – Pre- or postmenopausal osteoporosis – VDR genotypes |
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