A selection pressure landscape for 870 human polygenic traits
Open accessAbstract
Characterizing the natural selection of complex traits is important for understanding human evolution and both biological and pathological mechanisms. We leveraged genome-wide summary statistics for 870 polygenic traits and attempted to quantify signals of selection on traits of different forms in European ancestry across four periods in human history and evolution. We found that 88% of these traits underwent polygenic change in the past 2,000-3,000 years. Recent selection was associated with ancient selection signals in the same trait. Traits related to pigmentation, body measurement and nutritional intake exhibited strong selection signals across different time scales. Our findings are limited by our use of exclusively European data and the use of genome-wide association study data, which identify associations between genetic variants and phenotypes that may not be causal. In sum, we provide an overview of signals of selection on human polygenic traits and their characteristics across human evolution, based on a European subset of human genetic diversity. These findings could serve as a foundation for further populational and medical genetic studies.
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Some previous studies have suggested that evolutionary forces such as positive selection and Neandertal admixture may be linked to mental disorders such as Schizophrenia.
“Some previous studies have suggested that evolutionary forces such as positive selection [41] and Neandertal admixture [42, 43] may be linked to mental disorders such as Schizophrenia.”
From Neandertal introgression partitions the genetic landscape of neuropsychiatric disorders and associated behavioral phenotypes (2022) · cites this paper as [41]
The Main section links schizophrenia to studies of selection pressure, and the section on background selection reports enrichment of schizophrenia heritability in regions under background selection. The paper also reports positive adaptation for other conditions, including ADHD and anorexia nervosa, but the passages found do not establish positive selection for schizophrenia. The Neandertal-admixture part of the citing sentence is assigned to other citations, not this one. (LLM, conf=0.84)
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Lao, Ó. (2021) · Nature Human Behaviour · doi:10.1038/s41562-021-01232-3
Problems with studying directional natural selection in humans
Mikhailova, S. (2023) · Vavilovskii zhurnal genetiki i selektsii · doi:10.18699/vjgb-23-79
Staerk, C., Klinkhammer, H., Wistuba, T., Maj, C., & Mayr, A. (2024) · Figshare · doi:10.6084/m9.figshare.26721723
Cognitive mediation of social complexity–brain volume associations in a population-based sample
Roozen, M. C., & Kas, M. J. (2026) · Evolution and Human Behavior · doi:10.1016/j.evolhumbehav.2026.106866
Rare bi-allelic MEX3B mutations in childhood herpes simplex encephalitis
Kerrouche, N. (2024) · theses.fr (ABES) · doi:10.70675/a1c17eadz8e32z4ae6z8f5dzbe60fed472de
Tamandeh, E., Kunwar, K., Bigge, J., Serohijos, A. W. R., Schumacher, J., Maj, C., & Dasmeh, P. (2026) · Genome biology · doi:10.1186/s13059-026-04253-1
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Skoglund, P., & Mathieson, I. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-026-01010-9
- Authors
- Song, W., Shi, Y., Wang, W., Pan, W., Qian, W., Yu, S., Zhao, M., & Lin, G. N.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Corresponding author
- Lin, Guan Ning
- Venue
- Nature Human Behaviour
- Published
- 2021-11-15
- Volume
- 5
- Issue
- 12
- Pages
- 1731-1743
- ISSN
- 2397-3374 (ISSN-L)
- OpenAlex
- W3113319822
- Cited by
- 25
- References
- 73
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 4 · 2023: 7 · 2022: 5 · 2021: 1
- FWCI
- 2.40
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Nature Human Behaviour (publishedVersion, public-domain)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- natural selection, polygenic traits, complex traits, selection signals, human evolution, European ancestry, pigmentation, body shape, dietary intake, recent selection
- MeSH terms
- Humans, Models, Genetic, Phenotype, Selection, Genetic, Genome, Human, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Databases, Genetic, Genome-Wide Association Study
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