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Genetic overlap between educational attainment, schizophrenia and autism

By Varun Warrier, Richard A.I. Bethlehem, Daniel H. Geschwind, Simon Baron-Cohen

Posted 12 Dec 2016
bioRxiv DOI: 10.1101/093575

Abstract Importance: The genetic relationship between cognition, autism, and schizophrenia is complex. It is unclear how genes that contribute to cognition also contribute to risk for autism and schizophrenia. Objective: To investigate the interaction between genes related to cognition (measured via proxy through educational attainment, which we call edu genes) and genes/biological pathways that are atypical in autism and schizophrenia. Design: Genetic correlation and enrichment analysis were conducted to identify the interaction between edu genes and risk genes and biological pathways for autism or schizophrenia. Results: First, edu genes are enriched in a specific developmental co-expression module that is also enriched for high confidence autism risk genes. Second, modules enriched for genes that are dysregulated in autism and schizophrenia are also enriched for edu genes. Finally, genes that overlap between the two above modules and educational attainment are significantly enriched for genes that flank human accelerated regions, suggesting increased positive selection for the overlapping gene sets. Conclusion: Our results identify distinct co-expression modules where risk genes for the two psychiatric conditions interact with edu genes. This suggests specific pathways that contribute to both cognitive deficits and cognitive talents, in individuals with schizophrenia or autism.

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