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


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.

SUBMITTER: Li Q 

PROVIDER: S-EPMC10167347 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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

Li Qing Q   Chen Jieyi J   Faux Pierre P   Delgado Miguel Eduardo ME   Bonfante Betty B   Fuentes-Guajardo Macarena M   Mendoza-Revilla Javier J   Chacón-Duque J Camilo JC   Hurtado Malena M   Villegas Valeria V   Granja Vanessa V   Jaramillo Claudia C   Arias William W   Barquera Rodrigo R   Everardo-Martínez Paola P   Sánchez-Quinto Mirsha M   Gómez-Valdés Jorge J   Villamil-Ramírez Hugo H   Silva de Cerqueira Caio C CC   Hünemeier Tábita T   Ramallo Virginia V   Wu Sijie S   Du Siyuan S   Giardina Andrea A   Paria Soumya Subhra SS   Khokan Mahfuzur Rahman MR   Gonzalez-José Rolando R   Schüler-Faccini Lavinia L   Bortolini Maria-Cátira MC   Acuña-Alonzo Victor V   Canizales-Quinteros Samuel S   Gallo Carla C   Poletti Giovanni G   Rojas Winston W   Rothhammer Francisco F   Navarro Nicolas N   Wang Sijia S   Adhikari Kaustubh K   Ruiz-Linares Andrés A  

Communications biology 20230508 1


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<sup>-8</sup>) 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 mic  ...[more]

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