Title
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
Date Issued
05 February 2021
Access level
open access
Resource Type
journal article
Author(s)
Bonfante B.
Faux P.
Navarro N.
Dubied M.
Montillot C.
Wentworth E.
Poloni L.
Varón-González C.
Jones P.
Xiong Z.
Fuentes-Guajardo M.
Palmal S.
Chacón-Duque J.C.
Hurtado M.
Granja V.
Jaramillo C.
Arias W.
Barquera R.
Everardo-Martínez P.
Sánchez-Quinto M.
Gómez-Valdés J.
Villamil-Ramírez H.
Silva de Cerqueira C.C.
Hünemeier T.
Ramallo V.
Liu F.
Weinberg S.M.
Shaffer J.R.
Stergiakouli E.
Howe L.J.
Hysi P.G.
Spector T.D.
Gonzalez-José R.
Schüler-Faccini L.
Bortolini M.C.
Acuña-Alonzo V.
Canizales-Quinteros S.
Bedoya G.
Rothhammer F.
Thauvin-Robinet C.
Faivre L.
Costedoat C.
Balding D.
Cox T.
Kayser M.
Duplomb L.
Yalcin B.
Cotney J.
Adhikari K.
Ruiz-Linares A.
Publisher(s)
American Association for the Advancement of Science
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.
Volume
7
Issue
6
Language
English
OCDE Knowledge area
Genética humana Genética, Herencia
Scopus EID
2-s2.0-85100992453
PubMed ID
Source
Science Advances
ISSN of the container
23752548
Sponsor(s)
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 Científico e Tecnológico, Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (Apoio a Núcleos de Excelência Program), Fundação de Aperfeiçoamento de Pessoal de Nível 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 Université.
Sources of information: Directorio de Producción Científica Scopus