Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women
Autor: | Masakazu Miura, H Matsumoto, T Watanabe, Nigel Alexander Morrison, K Fukamauchi, Akifumi Tokita, T Tawa, Keijiro Yabuta, Shunji Yamamori, Naoki Mitsuhashi, M Irimoto, Yoshinori Kuwabara, Yuko Miura, John A. Eisman |
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Rok vydání: | 1996 |
Předmět: |
musculoskeletal diseases
Adult Male medicine.medical_specialty Heterozygote TaqI Bone disease Adolescent Endocrinology Diabetes and Metabolism Osteoporosis Calcitriol receptor Bone and Bones Bone remodeling chemistry.chemical_compound Japan Bone Density Internal medicine medicine Humans Orthopedics and Sports Medicine Child Allele frequency Alleles Aged Bone mineral Analysis of Variance biology Homozygote Genetic Variation Middle Aged medicine.disease Endocrinology chemistry Haplotypes Premenopause Osteocalcin biology.protein Receptors Calcitriol Female Bone Remodeling Biomarkers Polymorphism Restriction Fragment Length |
Zdroj: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 11(7) |
ISSN: | 0884-0431 |
Popis: | Recent studies have shown that genetic effects on bone mineral density (BMD) and bone turnover are related to allelic variation in the vitamin D receptor (VDR) gene. We examined allelic influences of the VDR gene on bone turnover and density in 202 normal healthy premenopausal Japanese women (age 30.1 +/- 1.2, mean +/- SEM). The VDR effect on BMD and turnover is similar to that observed in Caucasian women; however, there are major differences in allele frequency. The B allele by BsmI restriction fragment length polymorphisms (RFLPs), associated with low BMD and high bone turnover, is found in only 12% of Japanese women (1.4% homozygote BB), compared with 41% of Caucasians (16.7% homozygote BB). In comparing the two most frequent genotypes, Bb heterozygotes (21.5%) and bb homozygotes (77.1%), BMD is 5.3% lower in Bb heterozygotes, and levels of bone formation markers including osteocalcin and bone-specific alkaline phosphatase are 20-32% higher with lower serum calcium (2.30 +/- 0.02 vs 2.35 +/- 0.01 mmol/l) and higher 1,25-dihydroxyvitamin D (95 +/- 4.8 vs. 76 +/- 3.8 pmol/l). Further discrimination of the genotype was achieved using two additional RFLPs (ApaI, A and TaqI, T); the lumbar spine BMD of the common genotype BbAATt was 9.3% (0.94 SD) lower than in the bbaaTT genotype in premenopausal Japanese women. These data confirm that VDR RFLPs affect bone mineral metabolism regardless of racial differences. Moreover, the VDR genotypes based on haplotype analysis should yield useful insights into the potential prevention of osteoporosis. |
Databáze: | OpenAIRE |
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