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Directional Selection and Evolution of Polygenic Traits in Eastern Eurasia: Insights from Ancient DNA

Published online by Cambridge University Press:  30 January 2025

Davide Piffer Open the ORCID record for Davide Piffer [Opens in a new window]
Davide Piffer*
Affiliation:
Ulster Institute for Social Research, London, UK
*
Corresponding Author: Davide Piffer; Email: pifferdavide@gmail.com
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Abstract

This study explores directional selection on physical and psychosocial phenotypes in Eastern Eurasian populations, utilizing a dataset of 1245 ancient genomes. By analyzing polygenic scores (PGS) for traits including height, educational attainment (EA), IQ, autism, schizophrenia, and others, we observed significant temporal trends spanning the Holocene era. The results suggest positive selection for cognitive-related traits such as IQ, EA and autism spectrum disorder (ASD), alongside negative selection for anxiety and depression. The results for height were mixed and showed nonlinear relationships with Years Before Present (BP). These trends were partially mediated by genetic components linked to distinct ancestral populations. Regression models incorporating admixture, geography, and temporal variables were used to account for biases in population composition over time. Latitude showed a positive effect on ASD PGS, EA and height, while it had a negative effect on skin pigmentation scores. Additionally, latitude exhibited significant nonlinear effects on multiple phenotypes. The observed patterns highlight the influence of climate-mediated selection pressures on trait evolution. Spline regression revealed that several polygenic scores had nonlinear relationships with years BP. The findings provide evidence for complex evolutionary dynamics, with distinct selective pressures shaping phenotypic diversity across different timescales and environments.

Keywords

Ancient DNAPolygenic scoresPolygenic adaptationEast Asia
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Article
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Twin Research and Human Genetics , First View , pp. 1 - 20
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© The Author(s), 2025. Published by Cambridge University Press on behalf of International Society for Twin Studies

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