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

Betty Bonfante; Pierre Faux; Nicolas Navarro; Javier Mendoza-Revilla; Morgane Dubied; Charlotte Montillot; Emma Wentworth; Lauriane Poloni; Ceferino Varón-González; Philip Jones; Ziyi Xiong; Macarena Fuentes-Guajardo; Sagnik Palmal; Juan Camilo Chacón-Duque; Malena Hurtado; Valeria Villegas; Vanessa Granja; Claudia Jaramillo; William Arias; Rodrigo Barquera; Paola Everardo-Martínez; Mirsha Sánchez-Quinto; Jorge Gómez-Valdés; Hugo Villamil-Ramírez; Caio Silva de Cerqueira; Tábita Hünemeier; Virginia Ramallo; Fan Liu; Seth Weinberg; John Shaffer; Evie Stergiakouli; Laurence Howe; Pirro Hysi; Timothy Spector; Rolando Gonzalez-José; Lavinia Schüler-Faccini; Maria-Cátira Bortolini; Victor Acuña-Alonzo; Samuel Canizales-Quinteros; Carla Gallo; Giovanni Poletti; Gabriel Bedoya; Francisco Rothhammer; Christel Thauvin-Robinet; Laurence Faivre; Caroline Costedoat; David Balding; Timothy Cox; Manfred Kayser; Laurence Duplomb; Binnaz Yalcin; Justin Cotney; Kaustubh Adhikari; Andrés Ruiz-Linares

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

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Date

5 février 2021

Discipline

Anthropologie biologique

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Anglais

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ISIDORE Id: 10670/1.534ad8...
hal: hal-03268308
doi: 10.1126/sciadv.abc6160
PUBMED: 33547071
PUBMEDCENTRAL: PMC7864580

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HAL SHS (Sciences de l’Homme et de la Société)

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info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc6160

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/33547071

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Centre pour la communication scientifique directe

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http://creativecommons.org/licenses/by-nc/ , info:eu-repo/semantics/OpenAccess

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-bio]

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Biological structure Form in biology Comparative morphology Structure in biology Biological form Human face

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Betty Bonfante et al., « A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation », HAL SHS (Sciences de l’Homme et de la Société), ID : 10.1126/sciadv.abc6160

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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.

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

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