Abstract
Type I collagen is the most abundant of the vertebrate collagens and is the major protein of bone. The genes that encode collagen type I are candidates for the genetic regulation of bone mass not only because collagen is an important constituent of bone matrix, but also because mutations in the type I collagen genes are the cause of osteogenesis imperfecta (OI), a disease characterized by severe osteoporosis and multiple fractures. This chapter reviews the function of collagen type I, its structure, and the mechanisms by which transcription of the collagen type I genes are regulated. We then go on to discuss collagen type I mutations in osteogenesis imperfecta and try to highlight some of the parallels that exist between this disease and osteoporosis. Finally, recent association studies on the role polymorphisms of the collagen type I genes play as predictors of bone mass and osteoporotic fracture are reviewed.
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Ralston, S.H. (2000). Type I Collagen Polymorphisms and Osteoporosis. In: Econs, M.J. (eds) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-033-9_4
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DOI: https://doi.org/10.1007/978-1-59259-033-9_4
Publisher Name: Humana Press, Totowa, NJ
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