Novel genetic loci affecting facial shape variation in humans.

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ID: 77659
2019
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Abstract
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 < 5 × 10), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (p < 2.1 × 10). 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 -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.
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xiong2019novelelife Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Ziyi Xiong, Gabriela Dankova, Laurence J Howe, Myoung Keun Lee, Pirro G Hysi, Markus A de Jong, Gu Zhu, Kaustubh Adhikari, Dan Li, Yi Li, Bo Pan, Eleanor Feingold, Mary L Marazita, John R Shaffer, Kerrie McAloney, Shu-Hua Xu, Li Jin, Sijia Wang, Femke Ms de Vrij, Bas Lendemeijer, Stephen Richmond, Alexei Zhurov, Sarah Lewis, Gemma C Sharp, Lavinia Paternoster, Holly Thompson, Rolando Gonzalez-Jose, Maria Catira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, André G Uitterlinden, M Arfan Ikram, Eppo Wolvius, Steven A Kushner, Tamar Ec Nijsten, Robert-Jan Ts Palstra, Stefan Boehringer, Sarah E Medland, Kun Tang, Andres Ruiz-Linares, Nicholas G Martin, Timothy D Spector, Evie Stergiakouli, Seth M Weinberg, Fan Liu, Manfred Kayser
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Journal eLife
Year 2019
DOI
10.7554/eLife.49898
URL
Keywords
genome-wide association study genetics genomics human gene regulation gwas face european images

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