Wednesday, November 22, 2023

New Study Reveals the Genetics of Human Head Shape

    Researchers from the University of Pittsburgh and KU Leuven have discovered a set of genes that influence head shape in humans. The findings of this study not only help explain the diversity of human head shapes but also help explain the genetic basis of skull conditions like craniosynostosis. Craniosynostosis is a condition where the bones in a skull join together too early while the brain still grows rapidly, as shown below in Figure 1.
Figure 1

This study analyzed measurements of the cranial vault, the part of the skull that encases and protects the brain and forms the rounded top of the head, in over 6,000 adolescents and identified 30 genomic regions associated with different head shapes. 29 of the 30 genomic regions were previously unreported. Researchers used magnetic resonance scans in order to get 3D surfaces/images of the cranial vault. They then divided the 3D vault surfaces into smaller subparts and quantified the shape of those subparts and tested millions of genetic variants to measure the vault shape. 

Strong associations were found near genes that play key roles in the formation of head and face shape and bone development. Variants near the gene RUNX2, for example, were associated with vault shape. Unlike the RUNX2 gene, there are other genes that have a more localized effect on the cranial vault. Despite the research being conducted on healthy participants, the finding may be applicable to those with a skull condition as it may help uncover the biological basis of the disease. The researchers found that variants near the genes BMP2, BBS9, and ZIC2 were associated with craniosynostosis. This suggests that these genes could play a role in the development of craniosynostosis, which could allow for a more in-depth understanding of the process and treatment for this condition. These findings are important as they could be applied to future paleoanthropology studies which could uncover information about the early development of modern humans. It is interesting to see the benefits of this study for not only understanding the past but also for the future. These findings could hopefully offer more clues about conditions and diseases that involve the cranial vault, like craniosynostosis, and help develop more efficient and less invasive treatments for such conditions.


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