Human-specific evolutionary markers linked to foetal neurodevelopment modulate brain surface area in schizophrenia.

ABSTRACT: Schizophrenia may represent a trade-off in the evolution of human-specific ontogenetic mechanisms that guide neurodevelopment. Human Accelerated Regions (HARs) are evolutionary markers functioning as neurodevelopmental transcription enhancers that have been associated with brain configuration, neural information processing, and schizophrenia risk. Here, we have investigated the influence of HARs' polygenic load on neuroanatomical measures through a case-control approach (128 patients with schizophrenia and 115 controls). To this end, we have calculated the global schizophrenia Polygenic Risk Score (Global PRS_SZ) and that specific to HARs (HARs PRS_SZ). We have also estimated the polygenic burden restricted to the HARs linked to transcriptional regulatory elements activ

SUBMITTER: Guardiola-Ripoll M 

PROVIDER: S-EPMC10576001 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature