Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans

Sung Kil Lim, Young Suk Park, Jae Min Park, Young Duk Song, Eun Jik Lee, Kyung Rae Kim, Hyun Chul Lee, Kap Bum Huh

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Abstract

To evaluate whether common allelic variants in the gene encoding the vitamin D receptor (VDR) were useful in predicting differences in bone mineral density (BMD) and bone turnover rate in Koreans, we analyzed the restriction pattern of the polymerase chain reaction product of the VDR gene with the Bsm1 enzyme and serum osteocalcin in patients with osteoporosis. The prevalence of the BB genotype in the controls was extremely low when compared with that in other reports: the BB, Bb, and bb genotypes accounted for 1.4%, 12.9%, and 85.7%, respectively. Only 2.8% of those patients with osteoporosis had the BB genotype. In contrast, 12.5% had the Bb genotype, and 84.7% had the bb genotype. The prevalence of the BB genotype in patients with severe osteoporosis was also extremely low: the BB, Bb, and bb genotypes accounted for 0%, 12.4%, and 87.6%, respectively. Compared with the mean serum osteocalcin level of the pre- and post-menopausal controls, the level in patients with severe osteoporosis was higher, and this was statistically significant. As expected, a negative correlation was observed between the serum osteocalcin levels and the age-matched Z scores for spinal BMD. However, no correlation was found in the femoral neck BMD. These results suggest that restriction fragment length polymorphism analysis of the VDR gene with a Bsm1 restriction enzyme in Koreans is not helpful for early detection of patients at risk of developing osteoporosis. This is true even in patients with a high rate of bone turnover. Our data suggest extreme ethnic differences in the pattern of prevalence of the VDR allele.

Original languageEnglish
Pages (from-to)3677-3681
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume80
Issue number12
DOIs
Publication statusPublished - 1995 Dec

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Calcitriol Receptors
Osteoporosis
Bone
Genotype
Association reactions
Osteocalcin
Minerals
Bone Density
Bone Remodeling
Genes
Gene encoding
Polymerase chain reaction
Serum
Enzymes
Polymorphism
Reaction products
Femur Neck
Restriction Fragment Length Polymorphisms
Alleles
Bone and Bones

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Lim, Sung Kil ; Park, Young Suk ; Park, Jae Min ; Song, Young Duk ; Lee, Eun Jik ; Kim, Kyung Rae ; Lee, Hyun Chul ; Huh, Kap Bum. / Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans. In: Journal of Clinical Endocrinology and Metabolism. 1995 ; Vol. 80, No. 12. pp. 3677-3681.
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abstract = "To evaluate whether common allelic variants in the gene encoding the vitamin D receptor (VDR) were useful in predicting differences in bone mineral density (BMD) and bone turnover rate in Koreans, we analyzed the restriction pattern of the polymerase chain reaction product of the VDR gene with the Bsm1 enzyme and serum osteocalcin in patients with osteoporosis. The prevalence of the BB genotype in the controls was extremely low when compared with that in other reports: the BB, Bb, and bb genotypes accounted for 1.4{\%}, 12.9{\%}, and 85.7{\%}, respectively. Only 2.8{\%} of those patients with osteoporosis had the BB genotype. In contrast, 12.5{\%} had the Bb genotype, and 84.7{\%} had the bb genotype. The prevalence of the BB genotype in patients with severe osteoporosis was also extremely low: the BB, Bb, and bb genotypes accounted for 0{\%}, 12.4{\%}, and 87.6{\%}, respectively. Compared with the mean serum osteocalcin level of the pre- and post-menopausal controls, the level in patients with severe osteoporosis was higher, and this was statistically significant. As expected, a negative correlation was observed between the serum osteocalcin levels and the age-matched Z scores for spinal BMD. However, no correlation was found in the femoral neck BMD. These results suggest that restriction fragment length polymorphism analysis of the VDR gene with a Bsm1 restriction enzyme in Koreans is not helpful for early detection of patients at risk of developing osteoporosis. This is true even in patients with a high rate of bone turnover. Our data suggest extreme ethnic differences in the pattern of prevalence of the VDR allele.",
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Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans. / Lim, Sung Kil; Park, Young Suk; Park, Jae Min; Song, Young Duk; Lee, Eun Jik; Kim, Kyung Rae; Lee, Hyun Chul; Huh, Kap Bum.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 80, No. 12, 12.1995, p. 3677-3681.

Research output: Contribution to journalArticle

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AU - Lim, Sung Kil

AU - Park, Young Suk

AU - Park, Jae Min

AU - Song, Young Duk

AU - Lee, Eun Jik

AU - Kim, Kyung Rae

AU - Lee, Hyun Chul

AU - Huh, Kap Bum

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