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

Autores: Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza Revilla, Javier; Dubied, Morgane; Montillot, Charlotte; Wentworth, Emma; Poloni, Lauriane; Varón González, Ceferino; Jones, Philip; Xiong, Ziyi; Fuentes Guajardo, Macarena; Palmal, Sagnik; Chacón Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Barquera, Rodrigo; Everardo-Martínez, Paola; Sánchez-Quinto, Mirsha; Gómez-Valdés, Jorge; Villamil Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hünemeier, Tábita; Ramallo, Virginia; Liu, Fan
Año de publicación: 2021
Idioma: inglés
Tipo de recurso: artículo
Estado: versión publicada
Descripción: 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.
Fil: Bonfante, Betty. Centre National de la Recherche Scientifique; Francia
Fil: Faux, Pierre. Centre National de la Recherche Scientifique; Francia
Fil: Navarro, Nicolas. No especifíca;
Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú
Fil: Dubied, Morgane. No especifíca;
Fil: Montillot, Charlotte. No especifíca;
Fil: Wentworth, Emma. No especifíca;
Fil: Poloni, Lauriane. École Pratique Des Hautes Études; Francia
Fil: Varón González, Ceferino. Université Pierre et Marie Curie; Francia
Fil: Jones, Philip. Colegio Universitario de Londres; Reino Unido
Fil: Xiong, Ziyi. No especifíca;
Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile
Fil: Palmal, Sagnik. No especifíca;
Fil: Chacón Duque, Juan Camilo. Natural History Museum; Reino Unido
Fil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; Perú
Fil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; Perú
Fil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; Perú
Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia
Fil: Arias, William. Universidad de Antioquia; Colombia
Fil: Barquera, Rodrigo. National School Of Anthropology And History; México
Fil: Everardo-Martínez, Paola. National School Of Anthropology And History; México
Fil: Sánchez-Quinto, Mirsha. Universidad Nacional Autónoma de México; México
Fil: Gómez-Valdés, Jorge. National School Of Anthropology And History; México
Fil: Villamil Ramírez, Hugo. Instituto Nacional de Medicina Genómica ; México
Fil: Silva de Cerqueira, Caio C.. No especifíca;
Fil: Hünemeier, Tábita. Universidade de Sao Paulo; Brasil
Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
Fil: Liu, Fan. Chinese Academy of Sciences; República de China
Materia: GWAS
HUMAN POPULATION
DENOSIVAN HAPLOTYPE
Nivel de accesibilidad: acceso abierto
Condiciones de uso: https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
Institución: Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador: oai:ri.conicet.gov.ar:11336/138033

Acceder

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network_acronym_str	CONICETDig
repository_id_str	3498
network_name_str	CONICET Digital (CONICET)
spelling	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variationBonfante, BettyFaux, PierreNavarro, NicolasMendoza Revilla, JavierDubied, MorganeMontillot, CharlotteWentworth, EmmaPoloni, LaurianeVarón González, CeferinoJones, PhilipXiong, ZiyiFuentes Guajardo, MacarenaPalmal, SagnikChacón Duque, Juan CamiloHurtado, MalenaVillegas, ValeriaGranja, VanessaJaramillo, ClaudiaArias, WilliamBarquera, RodrigoEverardo-Martínez, PaolaSánchez-Quinto, MirshaGómez-Valdés, JorgeVillamil Ramírez, HugoSilva de Cerqueira, Caio C.Hünemeier, TábitaRamallo, VirginiaLiu, FanGWASHUMAN POPULATIONDENOSIVAN HAPLOTYPEhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1To 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.Fil: Bonfante, Betty. Centre National de la Recherche Scientifique; FranciaFil: Faux, Pierre. Centre National de la Recherche Scientifique; FranciaFil: Navarro, Nicolas. No especifíca;Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; PerúFil: Dubied, Morgane. No especifíca;Fil: Montillot, Charlotte. No especifíca;Fil: Wentworth, Emma. No especifíca;Fil: Poloni, Lauriane. École Pratique Des Hautes Études; FranciaFil: Varón González, Ceferino. Université Pierre et Marie Curie; FranciaFil: Jones, Philip. Colegio Universitario de Londres; Reino UnidoFil: Xiong, Ziyi. No especifíca;Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; ChileFil: Palmal, Sagnik. No especifíca;Fil: Chacón Duque, Juan Camilo. Natural History Museum; Reino UnidoFil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; PerúFil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; PerúFil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; PerúFil: Jaramillo, Claudia. Universidad de Antioquia; ColombiaFil: Arias, William. Universidad de Antioquia; ColombiaFil: Barquera, Rodrigo. National School Of Anthropology And History; MéxicoFil: Everardo-Martínez, Paola. National School Of Anthropology And History; MéxicoFil: Sánchez-Quinto, Mirsha. Universidad Nacional Autónoma de México; MéxicoFil: Gómez-Valdés, Jorge. National School Of Anthropology And History; MéxicoFil: Villamil Ramírez, Hugo. Instituto Nacional de Medicina Genómica ; MéxicoFil: Silva de Cerqueira, Caio C.. No especifíca;Fil: Hünemeier, Tábita. Universidade de Sao Paulo; BrasilFil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Liu, Fan. Chinese Academy of Sciences; República de ChinaScience Advances is the American Association for the Advancement of Science2021-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/138033Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza Revilla, Javier; Dubied, Morgane; et al.; A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation; Science Advances is the American Association for the Advancement of Science; Science Advances; 7; 6; 2-2021; 1-182375-2548CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc6160info:eu-repo/semantics/altIdentifier/url/https://advances.sciencemag.org/content/7/6/eabc6160info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:15:06Zoai:ri.conicet.gov.ar:11336/138033instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:15:07.168CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
title	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
spellingShingle	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation Bonfante, Betty GWAS HUMAN POPULATION DENOSIVAN HAPLOTYPE
title_short	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
title_full	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
title_fullStr	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
title_full_unstemmed	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
title_sort	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
dc.creator.none.fl_str_mv	Bonfante, Betty Faux, Pierre Navarro, Nicolas Mendoza Revilla, Javier Dubied, Morgane Montillot, Charlotte Wentworth, Emma Poloni, Lauriane Varón González, Ceferino Jones, Philip Xiong, Ziyi Fuentes Guajardo, Macarena Palmal, Sagnik Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Jaramillo, Claudia Arias, William Barquera, Rodrigo Everardo-Martínez, Paola Sánchez-Quinto, Mirsha Gómez-Valdés, Jorge Villamil Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Liu, Fan
author	Bonfante, Betty
author_facet	Bonfante, Betty Faux, Pierre Navarro, Nicolas Mendoza Revilla, Javier Dubied, Morgane Montillot, Charlotte Wentworth, Emma Poloni, Lauriane Varón González, Ceferino Jones, Philip Xiong, Ziyi Fuentes Guajardo, Macarena Palmal, Sagnik Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Jaramillo, Claudia Arias, William Barquera, Rodrigo Everardo-Martínez, Paola Sánchez-Quinto, Mirsha Gómez-Valdés, Jorge Villamil Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Liu, Fan
author_role	author
author2	Faux, Pierre Navarro, Nicolas Mendoza Revilla, Javier Dubied, Morgane Montillot, Charlotte Wentworth, Emma Poloni, Lauriane Varón González, Ceferino Jones, Philip Xiong, Ziyi Fuentes Guajardo, Macarena Palmal, Sagnik Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Jaramillo, Claudia Arias, William Barquera, Rodrigo Everardo-Martínez, Paola Sánchez-Quinto, Mirsha Gómez-Valdés, Jorge Villamil Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Liu, Fan
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	GWAS HUMAN POPULATION DENOSIVAN HAPLOTYPE
topic	GWAS HUMAN POPULATION DENOSIVAN HAPLOTYPE
purl_subject.fl_str_mv	https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv	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. Fil: Bonfante, Betty. Centre National de la Recherche Scientifique; Francia Fil: Faux, Pierre. Centre National de la Recherche Scientifique; Francia Fil: Navarro, Nicolas. No especifíca; Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú Fil: Dubied, Morgane. No especifíca; Fil: Montillot, Charlotte. No especifíca; Fil: Wentworth, Emma. No especifíca; Fil: Poloni, Lauriane. École Pratique Des Hautes Études; Francia Fil: Varón González, Ceferino. Université Pierre et Marie Curie; Francia Fil: Jones, Philip. Colegio Universitario de Londres; Reino Unido Fil: Xiong, Ziyi. No especifíca; Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile Fil: Palmal, Sagnik. No especifíca; Fil: Chacón Duque, Juan Camilo. Natural History Museum; Reino Unido Fil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; Perú Fil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; Perú Fil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; Perú Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia Fil: Arias, William. Universidad de Antioquia; Colombia Fil: Barquera, Rodrigo. National School Of Anthropology And History; México Fil: Everardo-Martínez, Paola. National School Of Anthropology And History; México Fil: Sánchez-Quinto, Mirsha. Universidad Nacional Autónoma de México; México Fil: Gómez-Valdés, Jorge. National School Of Anthropology And History; México Fil: Villamil Ramírez, Hugo. Instituto Nacional de Medicina Genómica ; México Fil: Silva de Cerqueira, Caio C.. No especifíca; Fil: Hünemeier, Tábita. Universidade de Sao Paulo; Brasil Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Liu, Fan. Chinese Academy of Sciences; República de China
description	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.
publishDate	2021
dc.date.none.fl_str_mv	2021-02
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/11336/138033 Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza Revilla, Javier; Dubied, Morgane; et al.; A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation; Science Advances is the American Association for the Advancement of Science; Science Advances; 7; 6; 2-2021; 1-18 2375-2548 CONICET Digital CONICET
url	http://hdl.handle.net/11336/138033
identifier_str_mv	Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza Revilla, Javier; Dubied, Morgane; et al.; A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation; Science Advances is the American Association for the Advancement of Science; Science Advances; 7; 6; 2-2021; 1-18 2375-2548 CONICET Digital CONICET
dc.language.none.fl_str_mv	eng
language	eng
dc.relation.none.fl_str_mv	info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc6160 info:eu-repo/semantics/altIdentifier/url/https://advances.sciencemag.org/content/7/6/eabc6160
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv	openAccess
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv	application/pdf application/pdf
dc.publisher.none.fl_str_mv	Science Advances is the American Association for the Advancement of Science
publisher.none.fl_str_mv	Science Advances is the American Association for the Advancement of Science
dc.source.none.fl_str_mv	reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str	CONICET Digital (CONICET)
collection	CONICET Digital (CONICET)
instname_str	Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv	CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score	13.070432

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

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