//
//
The genetic overlap between osteoporosis and craniosynostosis

The genetic overlap between osteoporosis and craniosynostosis

Erika Kague1*Carolina Medina-Gomez2, Simeon A. Boyadjiev3 and Fernando Rivadeneira4

Published Sep 2022

https://doi.org/10.3389/fendo.2022.1020821

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.

Recent News

We are excited to share some great news! The third GEMSTONE ITC grant call is now open! In Grant Period 4, funding will be available for the Inclusiveness Target Countries...
Funding for MULTIPLE STSMs/ VM and ITC is available in Grant Period 4 and applications are highly encouraged! Application Deadline: 14.05.2023 For more information, please check the file below:
The Special Issue on “The Role of Nutrition in Osteoarthritis Development” of Nutrients (ISSN 2072-6643) (impact factor of 6.706), is now open for submission.  For more information, please check the link to the...
“BioGeMT Project – Recruitment of the Team which will support the ERA Chair holderThe ERA Chair Team for this project will involve the recruitment of:(i) Researchers to perform Bioinformatics research, data analysis,...
Iryna Khrystoforova has just finished her PhD at Bar-Ilan University, Azrieli Faculty of Medicine under supervision of Prof. Karasik, Genetics of musculoskeletal diseases lab. Currently she is a Postdoc at...
Ines Alves is the founder and president of ANDO Portugal, the Skeletal Dysplasia National Association as well as the representative of the European Patient Advocacy groups (ePAG) and many other...