ArticleCerebral cortex (New York, N.Y. : 1991)2021
The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area.
Article in Cerebral cortex (New York, N.Y. : 1991), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.Translational psychiatry · 2020Pooled it
- Investigating the causal relationship between multimodal brain imaging-derived phenotypes and insomnia: A Mendelian randomization study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery.Translational psychiatry · 2025Article
- The emergence of genetic variants linked to brain and cognitive traits in human evolution.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- The trait-specific timing of accelerated genomic change in the human lineage.Cell genomics · 2025Article
- Neuroimaging genomics as a window into the evolution of human sulcal organization.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- The genetic relationships between brain structure and schizophrenia.Nature communications · 2023Article
- Developmental mechanisms underlying the evolution of human cortical circuits.Nature reviews. Neuroscience · 2023Review
- Discovery of 42 genome-wide significant loci associated with dyslexia.Nature genetics · 2022Article
- Using neuroimaging genomics to investigate the evolution of human brain structure.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The interindividual variability of multimodal brain connectivity maintains spatial heterogeneity and relates to tissue microstructure.Communications biology · 2022Article
- Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens.Scientific reports · 2022Article
- The Musical Abilities, Pleiotropy, Language, and Environment (MAPLE) Framework for Understanding Musicality-Language Links Across the Lifespan.Neurobiology of language (Cambridge, Mass.) · 2022Review
- Human brain evolution: Emerging roles for regulatory DNA and RNA.Current opinion in neurobiology · 2021Review
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 3 countries.
Funding
Abstract
Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000-3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure.
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