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Functional Analysis of the Single Nucleotide Polymorphism (787T>C) in the Tissue‐Nonspecific Alkaline Phosphatase Gene Associated With BMD

Polymorphisms of the TNSALP gene have not previously been studied as a possible determinant for variations in BMD or as a predisposing genetic factor for osteoporosis. This study showed a significantly higher association between the 787T>C (Tyr246His) TNSALP gene and BMD among 501 postmenopausal women. Furthermore, the effects of amino acid substitution on the catalytic property of the protein translated from the 787T>C gene were examined.