Novel genetic loci affecting facial shape variation in humans.
Clicks: 393
ID: 77659
2019
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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| Authors | Xiong, Ziyi;Dankova, Gabriela;Howe, Laurence J;Lee, Myoung Keun;Hysi, Pirro G;de Jong, Markus A;Zhu, Gu;Adhikari, Kaustubh;Li, Dan;Li, Yi;Pan, Bo;Feingold, Eleanor;Marazita, Mary L;Shaffer, John R;McAloney, Kerrie;Xu, Shu-Hua;Jin, Li;Wang, Sijia;de Vrij, Femke Ms;Lendemeijer, Bas;Richmond, Stephen;Zhurov, Alexei;Lewis, Sarah;Sharp, Gemma C;Paternoster, Lavinia;Thompson, Holly;Gonzalez-Jose, Rolando;Bortolini, Maria Catira;Canizales-Quinteros, Samuel;Gallo, Carla;Poletti, Giovanni;Bedoya, Gabriel;Rothhammer, Francisco;Uitterlinden, André G;Ikram, M Arfan;Wolvius, Eppo;Kushner, Steven A;Nijsten, Tamar Ec;Palstra, Robert-Jan Ts;Boehringer, Stefan;Medland, Sarah E;Tang, Kun;Ruiz-Linares, Andres;Martin, Nicholas G;Spector, Timothy D;Stergiakouli, Evie;Weinberg, Seth M;Liu, Fan;Kayser, Manfred;, ; |
| Journal | eLife |
| Year | 2019 |
| DOI | 10.7554/eLife.49898 |
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