The human cerebral cortex is important for cognition, and it is of interest to see how genetic variants affect its structure. DMPI faculty members Allison Ashley-Koch and Mike Hauser and DMPI staff member Melanie Garrett were part of a team of researchers who combined genetic data with brain magnetic resonance imaging from more than 50,000 people to generate a genome-wide analysis of how human genetic variation influences human cortical surface area and thickness. From this analysis, they identified variants associated with cortical structure, some of which affect signaling and gene expression. They observed overlap between genetic loci affecting cortical structure, brain development, and neuropsychiatric disease, and the correlation between these phenotypes is of interest for further study.
This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, evidence suggests that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function.