@article {330089,
	title = {A multi-ancestry GWAS meta-analysis of facial features and its application in predicting archaic human features},
	journal = {Journal of Genetics and Genomics},
	year = {2024},
	month = {2024/07/11/},
	abstract = {<p>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 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 significant 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 Denisovan. The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.</p>
},
	keywords = {Ancient DNA, Archaic human, Facial morphology, Facial polygenic score, Genome-Wide Association Study, Multi-ethnic meta-analysis},
	isbn = {1673-8527},
	doi = {https://doi.org/10.1016/j.jgg.2024.07.005},
	url = {https://www.sciencedirect.com/science/article/pii/S1673852724001814},
	author = {Du, Siyuan and Chen, Jieyi and Li, Jiarui and Qian, Wei and Wu, Sijie and Peng, Qianqian and Liu, Yu and Pan, Ting and Li, Yi and Hadi, Sibte Syed and Tan, Jingze and Yuan, Ziyu and Wang, Jiucun and Tang, Kun and Wang, Zhuo and Wen, Yanqin and Dong, Xinran and Zhou, Wenhao and Ruiz-Linares, Andres and Shi, Yongyong and Jin, Li and Liu, Fan and Zhang, Manfei and Wang, Sijia}
}
