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The genetic overlap between osteoporosis and craniosynostosis.

Osteoporosis is the most prevalent bone condition in the ageing
population. This systemic disease is characterized by microarchitectural
deterioration of bone, leading to increased fracture risk. In the past 15
years, genome-wide association studies (GWAS), have pinpointed hundreds of
loci associated with bone mineral density (BMD), helping elucidate the
underlying molecular mechanisms and genetic architecture of fracture risk.
However, the challenge remains in pinpointing causative genes driving GWAS
signals as a pivotal step to drawing the translational therapeutic roadmap.
Recently, a skull BMD-GWAS uncovered an intriguing intersection with
craniosynostosis, a congenital anomaly due to premature suture fusion in
the skull. Here, we recapitulate the genetic contribution to both
osteoporosis and craniosynostosis, describing the biological underpinnings
of this overlap and using zebrafish models to leverage the functional
investigation of genes associated with skull development and systemic
skeletal homeostasis.

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