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Transforming Growth Factor-1 Gene Polymorphism and Bone Mineral Density

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To the Editor: Transforming growth factor 1 (TGF-1) regulates bone metabolism by acting under partial control of estrogen and cooperatively with vitamin D.^1-2 The Leu10Pro polymorphism of the TGF-1 gene is located in the signal peptide sequence,³ which is thought to target newly synthesized protein molecules to the endoplasmic reticulum. Our previous observation that the serum concentration of TGF-1 increases with the number of C alleles suggests that the Leu10Pro polymorphism may affect the function of the signal peptide, possibly influencing intracellular trafficking or export efficiency of the protein.⁴

In a previous case-control study we found that a T869C (Leu10Pro) polymorphism of the TGF-1 gene is associated with reduced bone mineral density (BMD) at the lumbar spine and increased rate of bone loss in postmenopausal Japanese women. Thus, the T allele appears to represent a genetic risk factor for the development of . . . [Full Text of this Article]

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