Journal article

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 Varon-Gonzalez, Philip Jones, Ziyi Xiong, Macarena Fuentes-Guajardo, Sagnik Palmal, Juan Camilo Chacon-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera Show all

SCIENCE ADVANCES | AMER ASSOC ADVANCEMENT SCIENCE | Published : 2021

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 ada..

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University of Melbourne Researchers

Grants

Awarded by National Natural Science Foundation of China


Awarded by Scientific and Technology Committee of Shanghai Municipality


Awarded by Ministry of Science and Technology of China


Awarded by Shanghai Municipal Science and Technology Major Project


Awarded by 111 Project


Awarded by Leverhulme Trust


Awarded by BBSRC


Awarded by National Institute of Dental and Craniofacial Research


Funding Acknowledgements

Work leading to this publication was funded by grants from the National Natural Science Foundation of China (#31771393), the Scientific and Technology Committee of Shanghai Municipality (18490750300), the Ministry of Science and Technology of China (2020YFE0201600), the Shanghai Municipal Science and Technology Major Project (2017SHZDZX01) and the 111 Project (B13016), the Leverhulme Trust (F/07 134/DF), BBSRC (BB/I021213/1), the Excellence Initiative of Aix-Marseille University-A*MIDEX (a French "Investissements d'Avenir" program), Universidad de Antioquia (CODI sostenibilidad de grupos 2013-2014 and MASO 2013-2014), Conselho Nacional de Desenvolvimento Cientifico e Tecnologico, Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (Apoio a Nucleos de Excelencia Program), Fundacao de Aperfeicoamento de Pessoal de Nivel Superior, the National Institute of Dental and Craniofacial Research (R01-DE027023, U01-DE020078, R01-DE016148, and X01-HG007821), and a Santander Research and Scholarship Award. B.B. is supported by a doctoral scholarship from Ecole Doctorale 251 Aix-Marseille Universite.