BoneKEy-Osteovision | Perspective

Single gene mutations and variations affecting bone turnover and strength: a selective 2006 update

Serge Ferrari

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DOI:10.1138/20060240

Abstract

Osteoporosis is a bone fragility disorder with a strong genetic predisposition. Thus far, most gene variations associated with bone density, turnover and/or fractures have been identified through a candidate gene approach, which presupposes prior knowledge of the gene's function in bone biology and/or of the skeletal phenotype caused by single mutations in the gene. Here we review recent advances in the genetic defects leading to alterations in bone matrix composition; osteoblast function, including mineralization; osteoclast activity; and endocrine regulation of bone turnover and phosphate metabolism, and further summarize the genetic association studies relating common variations (polymorphisms) in these genes to BMD and fracture risk in the general population.

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