Towards a Better Understanding of The Genetics of the Human Cortical Folding

The folding of the human cerebral cortex is partly influenced by genetics, and understanding folding shapes is complicated given their wide variability. Here, we report the first genomic association study on a comprehensive representation of folding patterns. Via a multivariate statistical test applied to latent spaces generated by contrastive learning (Champollion V0) on 18,118 UKBioBank subjects (mean age, 62.5 years; 47.0% male), we identified in the orbitofrontal cortical region (OFC), respectively in the left and the right hemispheres, 15 and 11 loci (p < 5 × 10−8 ), 11 and 5 genes (p < 2 × 10−6 ) related to brain folding. Finally, we introduce a method for interpreting genetic associations in terms of folding shapes. These findings pave the way for future research to map cortical folding patterns to genetic factors.