Novel genetic loci affecting facial shape variation in humans

Xiong Z.; Dankova G.; Howe L.J.; Lee M.K.; Hysi P.G.; De Jong M.A.; Zhu G.; Adhikar K.; Li D.; Li Y.; Pan B.; Feingold E.; Marazita M.L.; Shaffer J.R.; McAloney K.; et. al.

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 < 5 x 10(-8)), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (P-adjusted < 2.1 x 10(-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 faceassociated 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.

Más información

Título según WOS: Novel genetic loci affecting facial shape variation in humans
Título según SCOPUS: Novel genetic loci affecting facial shape variation in humans
Título de la Revista: ELIFE
Volumen: 8
Editorial: eLIFE SCIENCES PUBL LTD
Fecha de publicación: 2019
Idioma: English
DOI:

10.7554/eLife.49898

Notas: ISI, SCOPUS