TY - JOUR
T1 - A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
AU - Bonfante, Betty
AU - Faux, Pierre
AU - Navarro, Nicolas
AU - Mendoza-Revilla, Javier
AU - Dubied, Morgane
AU - Montillot, Charlotte
AU - Wentworth, Emma
AU - Poloni, Lauriane
AU - Varón-González, Ceferino
AU - Jones, Philip
AU - Xiong, Ziyi
AU - Fuentes-Guajardo, Macarena
AU - Palmal, Sagnik
AU - Chacón-Duque, Juan 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 - Liu, Fan
AU - Weinberg, Seth M.
AU - Shaffer, John R.
AU - Stergiakouli, Evie
AU - Howe, Laurence J.
AU - Hysi, Pirro G.
AU - Spector, Timothy D.
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 - Bedoya, Gabriel
AU - Rothhammer, Francisco
AU - Thauvin-Robinet, Christel
AU - Faivre, Laurence
AU - Costedoat, Caroline
AU - Balding, David
AU - Cox, Timothy
AU - Kayser, Manfred
AU - Duplomb, Laurence
AU - Yalcin, Binnaz
AU - Cotney, Justin
AU - Adhikari, Kaustubh
AU - Ruiz-Linares, Andrés
N1 - Publisher Copyright:
Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
PY - 2021/2/5
Y1 - 2021/2/5
N2 - To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
AB - To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
UR - https://www.scopus.com/pages/publications/85100992453
U2 - 10.1126/sciadv.abc6160
DO - 10.1126/sciadv.abc6160
M3 - Artículo
C2 - 33547071
AN - SCOPUS:85100992453
SN - 2375-2548
VL - 7
JO - Science Advances
JF - Science Advances
IS - 6
M1 - eabc6160
ER -