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

2023; Nature Portfolio; Volume: 6; Issue: 1 Linguagem: Inglês

10.1038/s42003-023-04838-7

2399-3642

Qing Li, Jieyi Chen, Pierre Faux, Miguel Delgado, Betty Bonfante, Macarena Fuentes‐Guajardo, Javier Mendoza‐Revilla, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo, Mirsha Sánchez-Quinto, Jorge Gómez‐Valdés, Hugo Villamil‐Ramírez, Caio César Silva de Cerqueira, Tábita Hünemeier, Virgínia Ramallo, Sijie Wu, Siyuan Du, Andrea Giardina, Soumya Subhra Paria, Mahfuzur Rahman Khokan, Rolando González‐José, Lavínia Schüler‐Faccini, María Cátira Bortolini, Víctor Acuña-Alonzo, Samuel Canizales‐Quinteros, Carla Gallo, Giovanni Poletti, Winston Rojas, Francisco Rothhammer, Nicolas Navarro, Sijia Wang, Kaustubh Adhikari, Andrés Ruiz‐Linares,

Genetic and phenotypic traits in livestock

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.