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The emergence of genetic variants linked to brain and cognitive traits in human evolution

Title: The emergence of genetic variants linked to brain and cognitive traits in human evolution
Authors: Libedinsky, Ilan; Wei, Yongbin; de Leeuw, Christiaan; Rilling, James K.; Posthuma, Danielle; van den Heuvel, Martijn P.
Source: Libedinsky, I, Wei, Y, de Leeuw, C, Rilling, J K, Posthuma, D & van den Heuvel, M P 2025, 'The emergence of genetic variants linked to brain and cognitive traits in human evolution', Cerebral Cortex, vol. 35, no. 8, bhaf127. https://doi.org/10.1093/cercor/bhaf127
Publication Year: 2025
Subject Terms: brain; evolution; genetics; neuropsychiatry; Paleogenomics
Description: Human evolution involved major anatomical transformations, including a rapid increase in brain volume over the last 2 million years. Examination of fossil records provides insight into these physical changes but offers limited information on the evolution of brain function and cognition. A complementary approach integrates genome dating from the Human Genome Dating Project with genome-wide association studies to trace the emergence of genetic variants linked to human traits over 5 million years. We find that genetic variants underlying cortical morphology (∼300,000 years, P= 4 × 10 −28 ), fluid intelligence (∼500,000 years, P= 1.4 × 10 −4 ), and psychiatric disorders (∼475,000 years, P= 5.9 × 10 −33 ) emerged relatively recently in hominin evolution. Among psychiatric phenotypes, variants associated with depression (∼24,000 years, P= 1.6 × 10 −4 ) and alcoholism-related traits (∼40,000 years, P= 5.2 × 10 −12 ) are the youngest. Genes with recent evolutionary modifications are involved in intelligence (P= 1.7 × 10 −6 ) and cortical area (P= 3.5 × 10 −4 ) and exhibit elevated expression in language-related areas (P= 7.1 × 10 −4 ), a hallmark of human cognition. Our findings suggest that recently evolved genetic variants shaped the human brain, cognition, and psychiatric traits.
Document Type: article in journal/newspaper
Language: English
ISSN: 1047-3211; 1460-2199
Relation: info:eu-repo/semantics/altIdentifier/pmid/40801890; info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/1871.1/8fbd26c5-1292-4a4d-a57a-2b57ba9aa42f; info:eu-repo/semantics/altIdentifier/pissn/1047-3211; info:eu-repo/semantics/altIdentifier/eissn/1460-2199
DOI: 10.1093/cercor/bhaf127
Availability: https://research.vu.nl/en/publications/8fbd26c5-1292-4a4d-a57a-2b57ba9aa42f; https://doi.org/10.1093/cercor/bhaf127; https://hdl.handle.net/1871.1/8fbd26c5-1292-4a4d-a57a-2b57ba9aa42f; https://www.scopus.com/pages/publications/105013241254; https://www.scopus.com/pages/publications/105013241254#tab=citedBy
Rights: info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.221BB4D5
Database: BASE