| Title: |
Novel genetic loci affecting facial shape variation in humans |
| Authors: |
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, S-H; Jin, L; Wang, S; de Vrij, FMS; Lendemeijer, B; Richmond, S; Zhurov, A; Lewis, S; Sharp, GC; Paternoster, L; Thompson, H; Gonzalez-Jose, R; Bortolini, MC; Canizales-Quinteros, S; Gallo, C; Poletti, G; Bedoya, G; Rothhammer, F; Uitterlinden, APG; Ikram, MA; Wolvius, E; Kushner, SA; Nijsten, TEC; Palstra, R-JTS; Boehringer, S; Medland, SE; Tang, K; Ruiz-Linares, A; Martin, NG; Spector, TD; Stergiakouli, E; Weinberg, SM; Liu, F; Kayser, M |
| Source: |
eLife , 8 , Article e49898. (2019) |
| Publisher Information: |
ELIFE SCIENCES PUBLICATIONS LTD |
| Publication Year: |
2019 |
| Collection: |
University College London: UCL Discovery |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10089308/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10089308/1/elife-49898-v3.pdf; https://discovery.ucl.ac.uk/id/eprint/10089308/ |
| Rights: |
open |
| Accession Number: |
edsbas.1F38858B |
| Database: |
BASE |