Novel genetic loci affecting facial shape variation in humans
By
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,
Shuhua Xu,
Li Jin,
Sijia Wang,
Femke M. de Vrij,
Bas Lendemeijer,
Stephen Richmond,
Alexei Zhurov,
Sarah Lewis,
Gemma 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,
Mohammad Arfan Ikram,
Eppo B Wolvius,
Steven A Kushner,
Tamar Nijsten,
Robert-Jan Palstra,
Stefan Boehringer,
Sarah E. Medland,
Kun Tang,
Andrés Ruiz-Linares,
Nicholas G Martin,
Timothy D. Spector,
Evie Stergiakouli,
Seth M. Weinberg,
Fan Liu,
Manfred Kayser,
on behalf of the International Visible Trait Genetics (VisiGen) Consortium
Posted 04 Jul 2019
bioRxiv DOI: 10.1101/693002
(published DOI: 10.7554/eLife.49898)
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 of science and application. 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 genome-wide significant association, among which 17 were previously unreported. A multi-ethnic study in additional 7,917 individuals confirmed 13 loci including 8 unreported ones. A global map of 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.
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