Universidad Peruana Cayetano Heredia
Novel genetic loci affecting facial shape variation in humans.
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| dc.contributor.author | Xiong, Ziyi | |
| dc.contributor.author | Dankova, Gabriela | |
| dc.contributor.author | Howe, Laurence J. | |
| dc.contributor.author | Lee, Myoung Keun | |
| dc.contributor.author | Hysi, Pirro G. | |
| dc.contributor.author | de Jong, Markus A. | |
| dc.contributor.author | Zhu, Gu | |
| dc.contributor.author | Adhikari, Kaustubh | |
| dc.contributor.author | Li, Dan | |
| dc.contributor.author | Li, Yi | |
| dc.contributor.author | Pan, Bo | |
| dc.contributor.author | Feingold, Eleanor | |
| dc.contributor.author | Marazita, Mary L. | |
| dc.contributor.author | Shaffer, John R. | |
| dc.contributor.author | McAloney, Kerrie | |
| dc.contributor.author | Xu, Shu-Hua | |
| dc.contributor.author | Jin, Li | |
| dc.contributor.author | Wang, Sijia | |
| dc.contributor.author | de Vrij, Femke Ms | |
| dc.contributor.author | Lendemeijer, Bas | |
| dc.contributor.author | Richmond, Stephen | |
| dc.contributor.author | Zhurov, Alexei | |
| dc.contributor.author | Lewis, Sarah | |
| dc.contributor.author | Sharp, Gemma C. | |
| dc.contributor.author | Paternoster, Lavinia | |
| dc.contributor.author | Thompson, Holly | |
| dc.contributor.author | Gonzalez-Jose, Rolando | |
| dc.contributor.author | Bortolini, Maria Catira | |
| dc.contributor.author | Canizales-Quinteros, Samuel | |
| dc.contributor.author | Gallo López-Aliaga, Carla Maria | |
| dc.contributor.author | Poletti, Giovanni | |
| dc.contributor.author | Bedoya, Gabriel | |
| dc.contributor.author | Rothhammer, Francisco | |
| dc.contributor.author | Uitterlinden, Andre G. | |
| dc.contributor.author | Ikram, M. Arfan | |
| dc.contributor.author | Wolvius, Eppo | |
| dc.contributor.author | Kushner, Steven A. | |
| dc.contributor.author | Nijsten, Tamar Ec | |
| dc.contributor.author | Palstra, Robert-Jan Ts | |
| dc.contributor.author | Boehringer, Stefan | |
| dc.contributor.author | Medland, Sarah E. | |
| dc.contributor.author | Tang, Kun | |
| dc.contributor.author | Ruiz-Linares, Andres | |
| dc.contributor.author | Martin, Nicholas G. | |
| dc.contributor.author | Spector, Timothy D. | |
| dc.contributor.author | Stergiakouli, Evie | |
| dc.contributor.author | Weinberg, Seth M. | |
| dc.contributor.author | Liu, Fan | |
| dc.contributor.author | Kayser, Manfred | |
| dc.date.accessioned | 2019-12-06T21:04:50Z | |
| dc.date.available | 2019-12-06T21:04:50Z | |
| dc.date.issued | 2019 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12866/7643 | |
| dc.description.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<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. | en_US |
| dc.language.iso | eng | |
| dc.publisher | eLife Sciences Publications | |
| dc.relation.ispartofseries | eLife | |
| dc.rights | info:eu-repo/semantics/restrictedAccess | |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es | |
| dc.subject | genetics | en_US |
| dc.subject | genomics | en_US |
| dc.subject | human | en_US |
| dc.title | Novel genetic loci affecting facial shape variation in humans. | en_US |
| dc.type | info:eu-repo/semantics/article | |
| dc.identifier.doi | https://doi.org/10.7554/eLife.49898 | |
| dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#1.06.03 | |
| dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#3.01.03 | |
| dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#3.01.04 | |
| dc.relation.issn | 2050-084X |
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