Novel genetic loci affecting facial shape variation in humans.

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

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