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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, Carla
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
dc.relation.ispartof urn:issn:2050-084X
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#3.02.00 es_PE
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


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