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.

• Autores: Jaramillo Alzate, Claudia Milena; Arias Pérez, William Hernán; Ruíz Linares, Andrés; Rojas Montoya, Winston; Faux, Pierre; Delgado, Miguel Eduardo; Bonfante, Betty; Fuentes Guajardo, Macarena; Mendoza Revilla, Javier; Chacón Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Barquera, Rodrigo; Everardo Martínez, Paola; Sánchez Quinto, Mirsha; Gómez Valdés, Jorge; Villamil Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hünemeier, Tábita; Ramallo, Virginia; Wu, Sijie; Du, Siyuan; Giardina, Andrea; Subhra Paria, Soumya; Khokan, Mahfuzur Rahman; González José, Rolando; Schüler Faccini, Lavinia; Bortolini, María Cátira; Acuña Alonzo, Víctor; Canizales Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Rothhammer, Francisco; Navarro, Nicolás; Wang, Sijia; Adhikari, Kaustubh; Chen, Jieyi; Li, Qing
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2023
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/41002
• Acceso en línea: https://hdl.handle.net/10495/41002
• Palabra clave: Cell Differentiation; Diferenciación Celular; Genome-Wide Association Study; Estudio de Asociación del Genoma Completo; Neanderthals; Hombre de Neandertal; Nose; Nariz; https://id.nlm.nih.gov/mesh/D002454; https://id.nlm.nih.gov/mesh/D055106; https://id.nlm.nih.gov/mesh/D059125
• Rights: openAccess
• License: http://creativecommons.org/licenses/by/2.5/co/