Universidad Peruana Cayetano Heredia

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

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dc.contributor.author Bonfante, Betty
dc.contributor.author Faux, Pierre
dc.contributor.author Navarro, Nicolas
dc.contributor.author Mendoza-Revilla, Javier
dc.contributor.author Dubied, Morgane
dc.contributor.author Montillot, Charlotte
dc.contributor.author Wentworth, Emma
dc.contributor.author Poloni, Lauriane
dc.contributor.author Varón-González, Ceferino
dc.contributor.author Jones, Philip
dc.contributor.author Xiong, Ziyi
dc.contributor.author Fuentes-Guajardo, Macarena
dc.contributor.author Palmal, Sagnik
dc.contributor.author Chacón-Duque, Juan Camilo
dc.contributor.author Hurtado, Malena
dc.contributor.author Villegas, Valeria
dc.contributor.author Granja, Vanessa
dc.contributor.author Jaramillo, Claudia
dc.contributor.author Arias, William
dc.contributor.author Barquera, Rodrigo
dc.contributor.author Everardo-Martínez, Paola
dc.contributor.author Sánchez-Quinto, Mirsha
dc.contributor.author Gómez-Valdés, Jorge
dc.contributor.author Villamil-Ramírez, Hugo
dc.contributor.author Silva de Cerqueira, Caio C.
dc.contributor.author Hünemeier, Tábita
dc.contributor.author Ramallo, Virginia
dc.contributor.author Liu, Fan
dc.contributor.author Weinberg, Seth M.
dc.contributor.author Shaffer, John R.
dc.contributor.author Stergiakouli, Evie
dc.contributor.author Howe, Laurence J.
dc.contributor.author Hysi, Pirro G.
dc.contributor.author Spector, Timothy D.
dc.contributor.author Gonzalez-José, Rolando
dc.contributor.author Schüler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Cátira
dc.contributor.author Acuña-Alonzo, Victor
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Bedoya, Gabriel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Thauvin-Robinet, Christel
dc.contributor.author Faivre, Laurence
dc.contributor.author Costedoat, Caroline
dc.contributor.author Balding, David
dc.contributor.author Cox, Timothy
dc.contributor.author Kayser, Manfred
dc.contributor.author Duplomb, Laurence
dc.contributor.author Yalcin, Binnaz
dc.contributor.author Cotney, Justin
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Ruiz-Linares, Andrés
dc.date.accessioned 2021-04-13T20:50:58Z
dc.date.available 2021-04-13T20:50:58Z
dc.date.issued 2021
dc.identifier.uri https://hdl.handle.net/20.500.12866/9115
dc.description.abstract 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. en_US
dc.language.iso eng
dc.publisher American Association for the Advancement of Science
dc.relation.ispartofseries Science Advances
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject adult en_US
dc.subject controlled study en_US
dc.subject human en_US
dc.subject male en_US
dc.subject Mammals en_US
dc.subject nonhuman en_US
dc.subject animal experiment en_US
dc.subject article en_US
dc.subject American Indian en_US
dc.subject craniofacial development en_US
dc.subject face en_US
dc.subject Facial feature en_US
dc.subject facies en_US
dc.subject Genome-wide association studies en_US
dc.subject genome-wide association study en_US
dc.subject Genomic regions en_US
dc.subject haplotype en_US
dc.subject Homo denisovan en_US
dc.subject introgression en_US
dc.subject Latin americans en_US
dc.subject Morphology en_US
dc.subject mouse en_US
dc.subject Native Americans en_US
dc.subject photography en_US
dc.subject regulatory sequence en_US
dc.subject Regulatory sequences en_US
dc.subject single nucleotide polymorphism en_US
dc.subject Single nucleotide polymorphisms en_US
dc.subject thickness en_US
dc.subject Two-dimensional profiles en_US
dc.title A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1126/sciadv.abc6160
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 2375-2548


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