Review Article

Journal of Bone and Mineral Metabolism

, Volume 28, Issue 6, pp 601-607

First online:

Genetic aspects of osteoporosis

  • Takayuki HosoiAffiliated withDepartment of Clinical Research and Development, National Center for Geriatrics and Gerontology Email author 

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The multiple factors contributing to the pathogenesis of osteoporosis include genetic and environmental factors. Because decrease in bone mineral density (BMD) is the major clinical indicator and a useful quantitative trait, many association and linkage studies of BMD have been conducted. Although the series of studies showed apparently significant associations, the genes have not been found that can be utilized in clinical practice. Several genes identified in robust genome-wide association studies will be the new cutting edge in genetic studies of osteoporosis. Our recent reports of functional single nucleotide polymorphism in the tissue-nonspecific alkaline phosphatase gene and gamma-carboxylase gene are presented in this review to discuss the future prospects in the genetic research of osteoporosis from the point of view of genome–nutrition interaction.


Osteoporosis Single nucleotide polymorphism Bone mineral density Genetics