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 × 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 (padjusted < 2.1 × 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 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.
journal_name
Elifejournal_title
eLifeauthors
Xiong Z,Dankova G,Howe LJ,Lee MK,Hysi PG,de Jong MA,Zhu G,Adhikari K,Li D,Li Y,Pan B,Feingold E,Marazita ML,Shaffer JR,McAloney K,Xu SH,Jin L,Wang S,de Vrij FM,Lendemeijer B,Richmond S,Zhurov A,Lewis S,Sharpdoi
10.7554/eLife.49898subject
Has Abstractpub_date
2019-11-26 00:00:00issn
2050-084Xpii
49898journal_volume
8pub_type
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