Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Yangpu District, Shanghai, 200438, China.
CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai, 200031, China.
Commun Biol. 2023 May 8;6(1):481. doi: 10.1038/s42003-023-04838-7.
We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features.
我们对 6000 多名拉丁美洲人的面部特征进行了全基因组关联研究，这些人基于 2D 人像的自动地标定位，并对与地标间距离的关联进行了检测。我们在 42 个基因组区域检测到了显著的关联（P 值 <5×10），其中 9 个区域之前已经有报道。在后续分析中，33 个新区域中的 26 个在东亚人、欧洲人和非洲人中复制，并且一个与老鼠同源的区域影响老鼠的颅面形态。1q32.3 中的新区域显示出与尼安德特人的基因渗入，我们发现，渗入的片段增加了鼻高（与尼安德特人和现代人的分化一致）。新区域包括先前涉及颅面发育的候选基因和基因组调控元件，并显示出在颅神经嵴细胞中的优先转录。这里使用的自动方法应该简化了来自世界各地的大型研究样本的收集，从而促进了对全球面部特征遗传的研究。
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