Abstract：
Facial morphology, a complex trait influenced by genetics, holds great significance in evolutionary research. However, due to limited fossil evidence, the facial characteristics of Neanderthals and Denisovans have remained largely unknown. In this study, we conducted a large-scale multi-ethnic meta-analysis of the genome-wide association study (GWAS), including 9674 East Asians and 10,115 Europeans, quantitatively assessing 78 facial traits using 3D facial images. We identified 71 genomic loci associated with facial features, including 21 novel loci. We developed a facial polygenic score (FPS) that enables the prediction of facial features based on genetic information. Interestingly, the distribution of FPSs among populations from diverse continental groups exhibited relevant correlations with observed facial features. Furthermore, we applied the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and aligned predictions with the fossil records. Our results suggested that Neanderthals and Denisovans likely shared similar facial features, such as a wider but shorter nose and a wider endocanthion distance. The decreased mouth width was characterized specifically in Denisovans. The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.
摘要：
面部形态学,受遗传影响的复杂特征，在进化研究中具有重要意义。然而,由于化石证据有限,尼安德特人和丹尼索瓦人的面部特征在很大程度上仍然未知。在这项研究中,我们进行了大规模的多种族基因组关联研究（GWAS）的荟萃分析，包括9674名东亚人和10115名欧洲人，使用3D面部图像定量评估78个面部特征。我们确定了71个与面部特征相关的基因组基因座，包括21个新基因座。我们开发了一种面部多基因评分（FPS），可以根据遗传信息预测面部特征。有趣的是,FPS在不同大陆群体人群中的分布与观察到的面部特征显着相关。此外，我们用FPS来预测七个尼安德特人和一个丹尼索瓦人的面部特征，并将预测与化石记录保持一致。我们的结果表明，尼安德特人和丹尼索瓦人可能有相似的面部特征，例如更宽但更短的鼻子和更宽的内生距离。在Denisovan中特别表征了口腔宽度的减小。基因组数据和面部特征分析的整合为人类面部形态的进化史和适应性变化提供了有价值的见解。
