Novel genetic loci affecting facial shape variation in humans
Laurence J Howe,
Myoung Keun Lee,
Pirro G. Hysi,
Markus A. de Jong,
Mary L. Marazita,
John R. Shaffer,
Femke M. de Vrij,
Maria Catira Bortolini,
André G. Uitterlinden,
M. Arfan Ikram,
Eppo B Wolvius,
Steven A Kushner,
Sarah E. Medland,
Nicholas G Martin,
Timothy D. Spector,
Seth M. Weinberg,
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)
Posted 04 Jul 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 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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