Experts carry out the first major genetic study into cortical folding patterns

The brain’s surface, the cortex, is folded into an intricate pattern of grooves (sulci) and bumps (gyri). Individual differences in this pattern are associated with cognitive performance and brain disorders, however very little is known on how the “bumpiness and grooviness” of the cortex is determined.

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A team of international scientists carried out the first major genetic analysis into cortical folding patterns. The research was published in the prestigious journal, Science Advances.

The scientists examined neuroimaging and genetic data from more than 45,000 individuals in the United States and the United Kingdom. The researchers employed robust statistical techniques and they identified and characterized genetic variation associated with the extent of folding. They compared the observations on the more generally investigated measures of cortical thickness and surface area.

The researchers demonstrated that cortical folding is considerably more heritable than the other two measures. This contributed to the recognition of 856 vital genetic variants, the most identified for any brain measure in a single research. The associated genes are also part of vital brain developmental mechanisms, like neuronal migration, and were seen to be expressed mainly before birth.

A significant number of the recognized variants were also been earlier coupled to various brain disorders, confirming the clinical relevance of cortical folding.

Our findings certainly confirmed our impression that this is an under-investigated brain measure, one that can tell us a whole lot more about the brain, how it develops, and how this shapes our behavior, in health and disease.”

Dennis van der Meer, Study First Author, University of Oslo Faculty of Medicine

The research offers a fundamental understanding into the human brain.

These findings enable experimental studies to identify the biological pathways involved. The strong pattern of results further suggests that it is possible to develop prediction tools that can ultimately have clinical utility, benefitting people with severe mental disorders.”

Ole A. Andreassen, Study Senior Author, Professor, and Director, NORMENT Centre of Excellence. University of Oslo

Ole A. Andreassen is also a professor at the Oslo University Hospital.