Association between two types of vitamin D receptor gene polymorphism and bone status in premenopausal Japanese women
- First Online:
Polymorphisms in the vitamin D receptor (VDR) gene using ultrasound (US) bone mass and bone metabolic markers were investigated as potential genetic markers for osteoporosis in 126 premenopausal Japanese women aged 27.2 ± 10.1 (mean ± SD) years. The relationship between their VDR gene polymorphisms and bone states was determined. VDR genotypes were based on the absence (B) or presence (b) of the Bsm I restriction site (B polymorphism), and ATG (the M allele) and ACG (the m allele) sequences at the translation initiation site (M polymorphism). Genotype frequencies were 73.8%, bb; 24.6%, Bb; 1.6%, BB; 15.1%, MM; 51.6%, Mm and 33.3%, mm. The stiffness index of calcaneal bone minerals measured by an US bone densitometer was significantly higher in the mm types (P<0.05 versus MM) than in the Mm types (P<0.01 versus MM) and MM types. There was no significant difference between in B polymorphisms. Furthermore, bone mass was correlated with serum bone type alkaline phosphatase (ALP) activity and urinary deoxypyridinoline concentration in M polymorphisms. Because the distribution of B polymorphisms in each M polymorphism genotype did not differ, M polymorphisms were affected independently from B polymorphisms to bone mass or bone metabolic markers. No significant difference was observed in nutritional intake and food consumption among genotypes. In the MM and Mm types, the bone mass was closely related to the frequency of milk intake during the periods of elementary and junior high school. In contrast, bone mass was not associated with nutritional intake or the frequency of past milk intake in B polymorphisms. Therefore, the M polymorphism of the VDR gene is a stronger genetic indicator of osteoporosis than the B polymorphism in premenopausal Japanese woman.
Key wordsVDR gene polymorphism Ultrasound bone mass Bone metabolic markers Japanese premenopausal woman
Unable to display preview. Download preview PDF.
- 7.Matsuyama T, Ishii S, Tokita A, Yabuta K, Yamamori S, Morrison NA, Eisman JA (1995) Vitamin D receptor genotypes and bone mineral density. Lancet 45:1238–1239Google Scholar
- 11.Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K, Thonai T, Nishisho T, Mori S, Takeda E (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12:915–921CrossRefPubMedGoogle Scholar
- 12.Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D (1996) The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11:1850–1855CrossRefPubMedGoogle Scholar
- 17.Mautalen C, Gonzalez D, Circosta AN (1993) Ultrasonic assessment of bone in normal and osteoporotic women: a 4th Int Symp on Osteoporosis (abstract 43), Hong KongGoogle Scholar
- 18.Nakamura M, Aoki N, Nasu K, Kondo I (1994) An epidemiological study on osteoporosis using ultrasound bone densitometry. Jpn J Public Health 41:1152–1161Google Scholar
- 21.Kiel DP, Myers RH, Cupples LA, Kong XF, Zhu XH, Ordovas J, Schaefer EJ, Felson DT, Rush D, Wilson PWF, Eisman JA, Holick MF (1997) The BsmI Vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density. J Bone Miner Res 12:1049–1057CrossRefPubMedGoogle Scholar
- 24.The Ministry of Health and Welfare (1997) Present intake of nutrients in Japanese. Daiichi Press, Tokyo, ppGoogle Scholar