TY - JOUR
T1 - Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape
AU - Li, Qing
AU - Chen, Jieyi
AU - Faux, Pierre
AU - Delgado, Miguel Eduardo
AU - Bonfante, Betty
AU - Fuentes-Guajardo, Macarena
AU - Mendoza-Revilla, Javier
AU - Chacón-Duque, J. Camilo
AU - Hurtado, Malena
AU - Villegas, Valeria
AU - Granja, Vanessa
AU - Jaramillo, Claudia
AU - Arias, William
AU - Barquera, Rodrigo
AU - Everardo-Martínez, Paola
AU - Sánchez-Quinto, Mirsha
AU - Gómez-Valdés, Jorge
AU - Villamil-Ramírez, Hugo
AU - Silva de Cerqueira, Caio C.
AU - Hünemeier, Tábita
AU - Ramallo, Virginia
AU - Wu, Sijie
AU - Du, Siyuan
AU - Giardina, Andrea
AU - Paria, Soumya Subhra
AU - Khokan, Mahfuzur Rahman
AU - Gonzalez-José, Rolando
AU - Schüler-Faccini, Lavinia
AU - Bortolini, Maria Cátira
AU - Acuña-Alonzo, Victor
AU - Canizales-Quinteros, Samuel
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Rojas, Winston
AU - Rothhammer, Francisco
AU - Navarro, Nicolas
AU - Wang, Sijia
AU - Adhikari, Kaustubh
AU - Ruiz-Linares, Andrés
N1 - Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85158126431
U2 - 10.1038/s42003-023-04838-7
DO - 10.1038/s42003-023-04838-7
M3 - Article
C2 - 37156940
AN - SCOPUS:85158126431
SN - 2399-3642
VL - 6
JO - Communications Biology
JF - Communications Biology
IS - 1
M1 - 481
ER -