美国麻省理工学院和哈佛大学的布罗德研究所David Reich团队开发出古代DNA揭示了欧亚大陆西部普遍存在的定向选择。相关论文于2026年4月15日发表于国际顶尖学术期刊《自然》杂志上。

在这里，该课题组人员提出了一种在古代DNA时间序列数据中检测定向选择的方法，该方法测试了等位基因频率随时间变化的一致趋势，并将其应用于15,836名西欧亚人（10,016名新数据）。先前的研究表明，在人类进化的大跨度中，经典的硬扫描驱动优势突变到固定是罕见的。相比之下，在过去的一万年中，研究人员发现数百个等位基因受到强烈的定向选择的影响。该课题组人员还记录了等位基因组合在现代变异规模上的一个标准偏差变化，这些变化今天预测了复杂的性状。这包括预测体脂和精神分裂症的减少，以及认知能力的提高。这些影响是在土著化社会中测量的，目前尚不清楚这些影响与过去适应性的表型之间的关系。研究组估计选择系数在970万个变异，使研究达尔文的力量如何耦合等位基因效应和塑造复杂性状的遗传结构。

据悉，古DNA已经改变了他们对种群历史的理解，但由于样本量有限，而且难以区分等位基因频率持续上升、适应性增强和定向选择（由于迁移、种群结构或非适应性净化或稳定选择），古DNA揭示人类进化生物学的潜力尚未实现。

附：英文原文

Title: Ancient DNA reveals pervasive directional selection across West Eurasia

Author: Akbari, Ali, Perry, Annabel, Barton, Alison R., Kariminejad, Mohammadreza, Gazal, Steven, Li, Zheng, Zeng, Yating, Mittnik, Alissa, Patterson, Nick, Mah, Matthew, Zhou, Xiang, Price, Alkes L., Lander, Eric S., Pinhasi, Ron, Rohland, Nadin, Mallick, Swapan, Reich, David

Issue&Volume: 2026-04-15

Abstract: Ancient DNA has transformed our understanding of population history1, but its potential to reveal as much about human evolutionary biology has not been realized because of limited sample sizes and the difficulty of distinguishing sustained rises in allele frequency increasing fitness—directional selection—from shifts due to migrations, population structure, or non-adaptive purifying or stabilizing selection2,3,4,5,6,7. Here we present a method for detecting directional selection in ancient DNA time-series data that tests for consistent trends in allele frequency change over time, and apply it to 15,836 West Eurasians (10,016 with new data). Previous work has shown that classic hard sweeps driving advantageous mutations to fixation have been rare over the broad span of human evolution8,9. By contrast, in the past ten millennia, we find that many hundreds of alleles have been affected by strong directional selection. We also document one-standard-deviation changes on the scale of modern variation in combinations of alleles that today predict complex traits. This includes decreases in predicted body fat and schizophrenia, and increases in measures of cognitive performance. These effects were measured in industrialized societies, and it remains unclear how these relate to phenotypes that were adaptive in the past. We estimate selection coefficients at 9.7 million variants, enabling study of how Darwinian forces couple to allelic effects and shape the genetic architecture of complex traits.

DOI: 10.1038/s41586-026-10358-1

Source: https://www.nature.com/articles/s41586-026-10358-1