Génétique et métabolisme osseux

The importance of genetic factors in osteoporosis is well known. Their identification would allow us to better understand the physiopathology of this affection, and may be, to predict the fracture risk better and lead to the development of new treatments. A large number of studies concerning candidate genes implied in different bone metabolism pathways and more recent genome-wide association studies have been carried out but the contribution of the genes identified at present remains modest. Some advances have been made in understanding the pathogenesis of hypophosphatemic rickets with the discovery of the mutations of different genes (PHEX, FGF23, DMP1, SLC34A3), and of hypophosphatasia, which is accompagnied by the mutation of the gene encoding tissue-nonspecific alkaline phosphatase.