A multi-ancestry GWAS meta-analysis of facial features and its application in predicting archaic human features.

IF 6.6 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Siyuan Du, Jieyi Chen, Jiarui Li, Wei Qian, Sijie Wu, Qianqian Peng, Yu Liu, Ting Pan, Yi Li, Sibte Syed Hadi, Jingze Tan, Ziyu Yuan, Jiucun Wang, Kun Tang, Zhuo Wang, Yanqin Wen, Xinran Dong, Wenhao Zhou, Andrés Ruiz-Linares, Yongyong Shi, Li Jin, Fan Liu, Manfei Zhang, Sijia Wang
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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.

对面部特征及其在预测古人类特征中的应用进行多种姓 GWAS 元分析。
面部形态是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不为人所知。在这项研究中,我们进行了一项大规模的多种族全基因组关联研究(GWAS)荟萃分析,包括 9674 名东亚人和 10115 名欧洲人,利用三维面部图像对 78 个面部特征进行了定量评估。我们发现了 71 个与面部特征相关的基因组位点,其中包括 21 个新位点。我们开发了面部多基因评分(FPS),可根据遗传信息预测面部特征。有趣的是,FPS 在不同大陆群体中的分布与观察到的面部特征有显著的相关性。此外,我们还利用古DNA应用FPS预测了7个尼安德特人和1个丹尼索瓦人的面部特征,并将预测结果与化石记录进行了比对。我们的研究结果表明,尼安德特人和丹尼索瓦人可能具有相似的面部特征,如鼻子较宽但较短,内齿距较宽。丹尼索瓦人的特征是嘴部宽度减小。基因组数据与面部特征分析的整合为人类面部形态的进化历史和适应性变化提供了宝贵的见解。
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来源期刊
Journal of Genetics and Genomics
Journal of Genetics and Genomics 生物-生化与分子生物学
CiteScore
8.20
自引率
3.40%
发文量
4756
审稿时长
14 days
期刊介绍: The Journal of Genetics and Genomics (JGG, formerly known as Acta Genetica Sinica ) is an international journal publishing peer-reviewed articles of novel and significant discoveries in the fields of genetics and genomics. Topics of particular interest include but are not limited to molecular genetics, developmental genetics, cytogenetics, epigenetics, medical genetics, population and evolutionary genetics, genomics and functional genomics as well as bioinformatics and computational biology.
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