Researchers from the University of Pittsburgh and the University of Leuven have discovered a set of genes that affect the shape of the head in humans. The results of the study are published in the journal Nature Communications.
The results of these studies help explain the diversity of human head shapes and may also provide important clues about the genetic basis of diseases affecting the skull, such as craniosynostosis.
By analyzing measurements of the skull vault - the part of the skull that forms the rounded top of the head and protects the brain - the team identified 30 regions of the genome associated with different aspects of head shape, 29 of which had not previously been reported.
Scientists used magnetic resonance imaging (MRI) of more than 6,000 adolescents to extract three-dimensional surfaces corresponding to the skull vault. After dividing the three-dimensional vault surfaces into progressively smaller anatomical parts and quantifying the shape of these parts, they tested more than 10 million genetic variants to see if there was a statistical association with vault shape scores.
When the researchers compared 30 regions of the genome associated with head shape in participants with European, African, and Native American ancestry, they found that most of the genetic associations appeared to be shared by members of these different races.
According to Weinberg, although the study focused on healthy participants, the findings may provide important clues about the biological basis of skull vault-related diseases.
One such condition is craniosynostosis, which occurs when the bones of the skull fuse too early while the brain is still growing rapidly. Without neurosurgical intervention, craniosynostosis can lead to permanent disfigurement, brain damage, blindness, and even death.