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January 10, 2001

Transforming Growth Factor-β1 Gene Polymorphism and Bone Mineral Density

Author Affiliations

Stephen J.LurieMD, PhD, Senior EditorIndividualAuthor

JAMA. 2001;285(2):167-168. doi:10.1001/jama.285.2.163

To the Editor: Transforming growth factor β1 (TGF-β1) regulates bone metabolism by acting under partial control of estrogen and cooperatively with vitamin D.1,2 The Leu10→Pro polymorphism of the TGF-β1 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-β1 increases with the number of C alleles suggests that the Leu10→Pro polymorphism may affect the function of the signal peptide, possibly influencing intracellular trafficking or export efficiency of the protein.4

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