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

IF 1 4区 医学 Q4 GENETICS & HEREDITY Twin Research and Human Genetics Pub Date : 2025-01-30 DOI:10.1017/thg.2024.49
Davide Piffer
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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.

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本研究利用一个包含 1245 个古代基因组的数据集,探讨了东欧亚人群在身体和社会心理表型上的定向选择。通过分析身高、受教育程度(EA)、智商、自闭症、精神分裂症等性状的多基因评分(PGS),我们观察到跨越全新世时代的显著时间趋势。结果表明,智商、受教育程度和自闭症谱系障碍(ASD)等认知相关特征是正选择,而焦虑和抑郁则是负选择。身高方面的结果参差不齐,与距今年数(BP)呈非线性关系。这些趋势部分是由与不同祖先人群相关的遗传因素促成的。我们使用了包含混血、地理和时间变量的回归模型来解释随时间变化的种群组成偏差。纬度对 ASD PGS、EA 和身高有正向影响,而对皮肤色素沉着评分有负向影响。此外,纬度对多种表型表现出显著的非线性影响。观察到的模式凸显了气候选择压力对性状进化的影响。样条回归显示,多个多基因得分与年降水量存在非线性关系。这些发现为复杂的进化动态提供了证据,不同的选择压力在不同的时间尺度和环境中塑造了表型的多样性。
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来源期刊
Twin Research and Human Genetics
Twin Research and Human Genetics 医学-妇产科学
CiteScore
1.50
自引率
11.10%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Twin Research and Human Genetics is the official journal of the International Society for Twin Studies. Twin Research and Human Genetics covers all areas of human genetics with an emphasis on twin studies, genetic epidemiology, psychiatric and behavioral genetics, and research on multiple births in the fields of epidemiology, genetics, endocrinology, fetal pathology, obstetrics and pediatrics. Through Twin Research and Human Genetics the society aims to publish the latest research developments in twin studies throughout the world.
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