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Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

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dc.contributor.author Li, Qing
dc.contributor.author Chen, Jieyi
dc.contributor.author Faux, Pierre
dc.contributor.author Delgado, Miguel Eduardo
dc.contributor.author Bonfante, Betty
dc.contributor.author Fuentes-Guajardo, Macarena
dc.contributor.author Mendoza Revilla, Javier Alberto
dc.contributor.author Chacón-Duque, J. Camilo
dc.contributor.author Hurtado Chiong, Gloria Malena
dc.contributor.author Villegas Bernaola, Valeria
dc.contributor.author Granja Burbano, Vanessa Patricia
dc.contributor.author Jaramillo, Claudia
dc.contributor.author Arias, William
dc.contributor.author Barquera, Rodrigo
dc.contributor.author Everardo-Martínez, Paola
dc.contributor.author Sánchez-Quinto, Mirsha
dc.contributor.author Gómez-Valdés, Jorge
dc.contributor.author Villamil-Ramírez, Hugo
dc.contributor.author Silva de Cerqueira, Caio C.
dc.contributor.author Hünemeier, Tábita
dc.contributor.author Ramallo, Virginia
dc.contributor.author Wu, Sijie
dc.contributor.author Du, Siyuan
dc.contributor.author Giardina, Andrea
dc.contributor.author Paria, Soumya Subhra
dc.contributor.author Khokan, Mahfuzur Rahman
dc.contributor.author Gonzalez-José, Rolando
dc.contributor.author Schüler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Cátira
dc.contributor.author Acuña-Alonzo, Victor
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti Ferrara, Giovanni Angelo
dc.contributor.author Rojas, Winston
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Navarro, Nicolas
dc.contributor.author Wang, Sijia
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Ruiz-Linares, Andrés
dc.date.accessioned 2023-06-12T16:25:56Z
dc.date.available 2023-06-12T16:25:56Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/13631
dc.description.abstract 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. en_US
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartofseries Communications Biology
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Genome-wide association studies en_US
dc.subject Quantitative trait en_US
dc.subject.mesh Estudio de Asociación del Genoma Completo
dc.subject.mesh Sitios de Carácter Cuantitativo
dc.title Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s42003-023-04838-7
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.relation.issn 2399-3642


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