Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 S26.1 | DOI: 10.1530/endoabs.41.S26.1


Bone mineral density (BMD) and bone mass are quantitative traits that are the result of the two balanced processed of bone resorption and bone formation. Often they are used as a surrogate phenotype for the diagnosis of osteoporosis, characterized by an increased fracture risk due to a decreased bone mass and deterioration of the microarchitecture of the bone.

Variation in BMD is determined by both environmental and genetic factors with 50–85% of the variance being controlled by genetic factors. In a minority of the cases, abnormal BMD can be explained by one mutation in one gene with a large impact. These mutations can result in monogenic bone disorders with either an extreme high or low BMD. However, in most cases the genetic factors contributing to variation in BMD are highly polygenic. Identification of these genetic factors regulating bone mass has been a challenge in the last decades. So far, over 70 loci have been identified explaining around 6% of the genetic variation.

Identification of the disease causing genes in monogenic diseases increased the knowledge on the regulation of bone mass and highlighted important signaling pathways. Especially the identification of the essential role of Wnt signaling in bone formation turned out to be a major breakthrough. Interestingly, a large number of genes from this pathway turned out to play a role, not only in conditions with extremely low or high bone density but genetic variants in these genes also contribute to the variation of BMD in the general population. Since only 6% of the genetic variation is yet identified, additional studies with different study design are needed to identify all genes involved in bone formation and the regulation of bone mass.

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