Article Dans Une Revue Genes, Brain and Behavior Année : 2025

Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics

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Schizophrenia is a frequent and disabling disease. The persistence of the disorder despite its harmful consequences represents an evolutionary paradox. Based on recent discoveries in genetics, scientists have formulated the "price-to-pay" hypothesis: schizophrenia would be intimately related to human evolution, particularly to brain development and human-specific higher cognitive functions. The objective of the present work is to question scientific literature about the relationship between schizophrenia and human evolution from a genetic point of view. In the last two decades, research investigated the association between schizophrenia and a few genetic evolutionary markers: Human accelerated regions, segmental duplications, and highly repetitive DNA such as the Olduvai domain. Other studies focused on the action of natural selection on schizophrenia-associated genetic variants, also thanks to the complete sequencing of archaic hominins' genomes (Neanderthal, Denisova). Results suggested that a connection between human evolution and schizophrenia may exist; nonetheless, much research is still needed, and it is possible that a definitive answer to the evolutionary paradox of schizophrenia will never be found.
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hal-04888153 , version 1 (15-01-2025)

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Veronica Sandroni, Boris Chaumette. Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics. Genes, Brain and Behavior, 2025, 24 (1), pp.e70013. ⟨10.1111/gbb.70013⟩. ⟨hal-04888153⟩
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