Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

ABSTRACT: Cognitive deficits are common across many neurodevelopmental and psychiatric conditions, including those studied in the current set of PGC-CNV papers. How changes in regional gene expression across the cerebral cortex influence cognitive ability remains unknown. Population variation in gene dosage-which significantly impacts gene expression-represents a unique paradigm to address this question. We developed a cerebral-cortex gene-set burden analysis (CC-GSBA) to associate a trait with genomic deletions and duplications that disrupt genes with similar expression profiles across 180 cortical regions. We performed CC-GSBA across 180 cortical regions to test associations with cognitive ability in 260,000 individuals from general population cohorts. Most cortical gene sets were associated with

SUBMITTER: Kumar K 

PROVIDER: S-EPMC12642440 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature