Associations between Serum Bone-Specific Alkaline Phosphatase Activity, Biochemical Parameters, and Functional Polymorphisms of the Tissue-nonspecific Alkaline Phosphatase Gene in a Japanese Population

日本族群之血清中骨特異性鹼性磷酸酶活性、生化指標及組織非特異性鹼性磷酸酶基因的功能多型性之相關

Natsuko Sogabe ； Rieko Tanabe ； Mayu Haraikawa ； Yutaka Maruoka ； Hideo Orimo ； Takayuki Hosoi ； Masae Goseki-Sone

《Asia Pacific Journal of Clinical Nutrition》 22卷1期 (2013/03) Pp. 160-165

https://doi.org/10.6133/apjcn.2013.22.1.11

摘要

Introduction: We had demonstrated that single nucleotide polymorphism (787T＞C) in the tissue-nonspecific ALP (TNSALP) gene was associated with the bone mineral density (BMD). BMD was the lowest among TNSALP 787T homozygotes (TT-type) and highest among TNSALP 787T＞C homozygotes (CC-type) in postmenopausal women. In the present study, we investigated the effects of the TNSALP genotype on associations among serum bone-specific alkaline phosphatase (BAP), serum calcium, and phosphorus in healthy young Japanese subjects. Methods: Young healthy adult subjects (n=193) were genotyped for the polymorphism, and we measured the levels of serum BAP, serum calcium, and phosphorus. Dietary nutrient intakes were calculated based on 3-day food records before the day of blood examinations. Results: Grouped by the TNSALP genotype, a significant negative correlation between serum BAP and phosphorus was observed in 787T＞C homozygotes (CC-type), but not in heterozygotes (TCtype), nor in 787T homozygotes (TT-type). Conclusions: In the present study, we revealed that the single nucleotide polymorphism 787T＞C in the TNSALP gene had effects on the correlation between serum BAP and phosphorus in young adult subjects. These results suggest that variation in TNSALP may be an important determinant of phosphate metabolism. Our data may be useful for planning strategies to prevent osteoporosis.

關鍵字

骨特異性鹼性磷酸酶 ； 磷 ； 單一核苷酸多型性 ； 組織非特異性鹼性磷酸酶 ； 年輕成人受試者

並列摘要

Introduction: We had demonstrated that single nucleotide polymorphism (787T＞C) in the tissue-nonspecific ALP (TNSALP) gene was associated with the bone mineral density (BMD). BMD was the lowest among TNSALP 787T homozygotes (TT-type) and highest among TNSALP 787T＞C homozygotes (CC-type) in postmenopausal women. In the present study, we investigated the effects of the TNSALP genotype on associations among serum bone-specific alkaline phosphatase (BAP), serum calcium, and phosphorus in healthy young Japanese subjects. Methods: Young healthy adult subjects (n=193) were genotyped for the polymorphism, and we measured the levels of serum BAP, serum calcium, and phosphorus. Dietary nutrient intakes were calculated based on 3-day food records before the day of blood examinations. Results: Grouped by the TNSALP genotype, a significant negative correlation between serum BAP and phosphorus was observed in 787T＞C homozygotes (CC-type), but not in heterozygotes (TCtype), nor in 787T homozygotes (TT-type). Conclusions: In the present study, we revealed that the single nucleotide polymorphism 787T＞C in the TNSALP gene had effects on the correlation between serum BAP and phosphorus in young adult subjects. These results suggest that variation in TNSALP may be an important determinant of phosphate metabolism. Our data may be useful for planning strategies to prevent osteoporosis.

並列關鍵字

bone-specific alkaline phosphatase ； phosphorus ； single nucleotide polymorphism ； tissue-nonspecific alkaline phosphatase ； young adult subjects

參考文獻

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Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA. 1992;89:9924-8.

Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet. 1994;3: 1683-4.

Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, Sato S, Mayanagi H, Shimada T, Oida S. Hypophosphatasia:identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat. 1998;1:S263-7.

Goseki-Sone M, Orimo H, Iimura T, Miyazaki H, Oda K, Shibata H et al. Expression of the mutant (1735T-del) tissue- nonspecific alkaline phosphatase gene from hypophosphatasia patients. J Bone Miner Res. 1998;13:1827-34.