Contributors: Ministry of Education Key Laboratory of Contemporary Anthropology; Fudan University Shanghai -Collaborative Innovation Center for Genetics and Development; CAS Key Laboratory of Computational Biology; Chinese Academy of Sciences Beijing (CAS)-University of Chinese Academy of Sciences Beijing (UCAS); Chinese Academy of Sciences Beijing (CAS)-Shanghai Institute of Nutrition and Health; Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES); Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS); División Antropología La Plata (DA); Facultad de Ciencias Naturales y Museo La Plata (FCNyM); Universidad Nacional de la Plata Argentine (UNLP)-Universidad Nacional de la Plata Argentine (UNLP); Consejo Nacional de Investigaciones Científicas y Técnicas Buenos Aires (CONICET); Departamento de Tecnología Médica; Universidad de Tarapaca; Laboratorios de Investigación y Desarrollo (LID); Universidad Peruana Cayetano Heredia (UPCH); Génétique Evolutive Humaine - Human Evolutionary Genetics; Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité); Division of Vertebrates and Anthropology; The Natural History Museum London (NHM); Laboratorio de Genética Molecular; Universidad de Antioquia = University of Antioquia Medellín, Colombia; Molecular Genetics Laboratory; National School of Anthropology and History Mexico City, Mexico (NSAH); Department of Archaeogenetics Jena (DAG); Max Planck Institute for the Science of Human History (MPI-SHH); Max-Planck-Gesellschaft-Max-Planck-Gesellschaft; Forensic Science; Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM); Unidad de Genomica de Poblaciones Aplicada a la Salud; Scientific Police of São Paulo State Ourinhos, Brazil; Departamento de Genética e Biologia Evolutiva; Universidade de São Paulo = University of São Paulo (USP); Departamento de Genética; Universidade Federal do Rio Grande do Sul Porto Alegre (UFRGS); Instituto Patagónico de Ciencias Sociales y Humanas; School of Mathematics and Statistics Milton Keynes; Faculty of Science, Technology, Engineering and Mathematics Milton Keynes; The Open University Milton Keynes (OU)-The Open University Milton Keynes (OU); Facultad de Medicina & Instituto de Alta Investigacion; Universidad de Tarapaca-Universidade de Chile; Biogéosciences UMR 6282 (BGS); Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS); École Pratique des Hautes Études (EPHE); Université Paris Sciences et Lettres (PSL); Centre for Biodiversity and Environment Research, Department of Genetics, Evolution and Environment; University College of London London (UCL); the National Natural Science Foundation of China (#31771393), the Scientific and Technology Committee of Shanghai Municipality (18490750300), Ministry of Science and Technology of China (2020YFE0201600), Shanghai Municipal Science and Technology Major Project (2017SHZDZX01) and the 111 Project (B13016), the Leverhulme Trust (F/07 134/DF), BBSRC (BB/I021213/1), Universidad de Antioquia (CODI sostenibilidad de grupos 2013- 2014 and MASO 2013-2014), Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (Apoio a Núcleos de Excelência Program), Fundação de Aperfeiçoamento de Pessoal de Nível Superior and the National Institute of Dental and Craniofacial Research (R01-DE027023; U01-DE020078; R01-DE016148; X01-HG007821), Santander Research & Scholarship Award. B.B. is supported by a doctoral scholarship from Ecole Doctorale 251 Aix-Marseille Université.; ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011)
نبذة مختصرة : International audience ; 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 −8 ) 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.
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