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Novel genetic loci affecting facial shape variation in humans

Xiong, Ziyi, Dankova, Gabriela, Howe, Laurence J, Lee, Myoung Keun, Hysi, Pirro G, deJong, Markus A, Zhu, Gu, Adhikari, Kaustubh, Li, Dan, Pan, Bo, Feingold, Eleanor, Marazita, Mary L, Shaffer, John R, McAloney, Kerrie, Xu, Shuhua, Jin, Li, Wang, Sijia, de Vrij, Femke M, Lendermeijer, Bas, Richmond, Stephen ORCID:, Zhurov, Alexei ORCID:, Lewis, Sarah, Sharp, Gemma, Paternoster, Lavinia, Thompson, Holly, Gonzalez-Jose, Rolando, Bortolini, Maria Catira, Canizales-Quiteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Utterlinden, Andre G, Ikram, M Arfan, Wolvius, Eppo B, Kushner, Steven A, Nijsten, Tamar, Palstra, Robert-Jan, Boehringer, Stefan, Medland, Sarah E, Tang, Kun, Ruiz-Linares, Andres, Martin, Nicholas G, Spector, Timothy D, Stergiakouli, Evie, Weinberg, Seth M, Liu, Fan and Kayser, Manfred 2019. Novel genetic loci affecting facial shape variation in humans. eLife 8 , e49898. 10.7554/eLife.49898

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The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p<5x10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7,917 individuals confirmed 10 loci including 6 unreported ones (padjusted<2.1x10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Dentistry
Publisher: eLife Sciences Publications
ISSN: 2050-084X
Date of First Compliant Deposit: 2 December 2019
Date of Acceptance: 22 November 2019
Last Modified: 07 Nov 2023 21:29

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