Polymorphisms in the CYP19 Gene that Influence Bone Mineral Density

Abstract

Osteoporosis is a prevalent disease with a strong genetic component. Estrogens play a critical role in bone homeostasis. The aromatization of androgenic precursors is the main source of estrogens in men and postmenopausal women. Thus, aromatase is an attractive osteoporosis candidate gene. In this paper the influence of aromatase activity and aromatase gene variants on skeletal homeostasis is reviewed. The results of studies regarding the association between some common polymorphisms of the aromatase gene and bone mineral density and the risk of osteoporotic fractures are described. The mechanisms involved and the potential usefulness of those genetic data in the prevention and management of osteoporosis are discussed.

Keywords: :

• aromatase
• CYP19A1
• differential allelic expression
• estrogen
• estrogen receptors
• fractures
• osteoporosis
• polymorphisms

Acknowledgements

Supported by FIS grant 04/0028. I am grateful to my colleagues of the Genomics of Osteoporosis Group for their collaboration in studies referred to in this review, especially to María T Zarrabeitia, José L Hernández, Carmen Valero and Jesús González-Macías.

Additional information

Funding

Supported by Fidelity Information Services (FIS) grant 04/0028. I am grateful to my colleagues of the Genomics of Osteoporosis Group for their collaboration in studies referred to in this review, especially to María T Zarrabeitia, José L Hernández, Carmen Valero and Jesús González-Macías.