Genetic factors contributing to connection issues for white matter in the human brain discovered

A team of medical scientists at the Max Planck Institute for Psycholinguistics has found structural differences in white matter in the human brain that can be linked to genetic variants that may be responsible for some behavioral traits and brain disorders.

In their paper published in Science Advances, the group describes how they used multiple techniques to help them discover genetic factors that are involved in connection issues between white matter areas in the human brain—some of which might be involved in raising the risk of brain disorders.

Prior research has shown that one of the leading roles of white brain matter is to serve as a network of sorts, routing neural signals between different parts of the brain. Prior research has also found some evidence of links between genetic problems leading to tiny variations in white matter structure and several brain disorders. In this new effort, the researchers looked to learn more about the link between genetic variants in white matter and brain disorders.

The team began their work by analyzing 30,810 brain images and associated genotyping data held in the U.K. Biobank. The images were studied using diffusion tensor imaging, a kind of MRI scan that uses tractography to help visualize white matter tracts in 3D images. Such work helped to isolate structural variations.

They next conducted a genetic association analysis on the genotyped data and in so doing found that they were able to identify 325 loci that could be associated with white matter structures that differed from the norm.

In comparing the structural differences they observed with work by other researchers, they found that most of the genetic variants responsible for them were most active during embryonic and fetal development. They also found some possible links between the variants they found (and subsequent structural differences) and brain disorders—they note that prior research has shown that many people with brain disorders such as autism have a reduced number of white matter connections.

The researchers conclude by suggesting that reductions in white matter connections associated with structural impairment due to genetic variants are a risk factor for several types of brain disorders.

More information:
Zhiqiang Sha et al, Genetic architecture of the white matter connectome of the human brain, Science Advances (2023). DOI: 10.1126/sciadv.add2870

Journal information:
Science Advances

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