Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations
PLoS Genetics, Volume 17, No. 8, Article e1009695, Year 2021
Notification
URL copied to clipboard!
Description
Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with few studies focusing on other ancestral groups. Consequently, the degree to which facial traits share a common genetic basis across diverse sets of humans remains largely unknown. We therefore investigated the genetic basis of facial morphology in an East African cohort. We applied an openended data-driven phenotyping approach to a sample of 2,595 3D facial images collected on Tanzanian children. This approach segments the face into hierarchically arranged, multivariate features that capture the shape variation after adjusting for age, sex, height, weight, facial size and population stratification. Genome scans of these multivariate shape phenotypes revealed significant (p < 2.5 × 10-8) signals at 20 loci, which were enriched for active chromatin elements in human cranial neural crest cells and embryonic craniofacial tissue, consistent with an early developmental origin of the facial variation. Two of these associations were in highly conserved regions showing craniofacial-specific enhancer activity during embryological development (5q31.1 and 12q21.31). Six of the 20 loci surpassed a stricter threshold accounting for multiple phenotypes with study-wide significance (p < 6.25 × 10-10). Cross-population comparisons indicated 10 association signals were shared with Europeans (seven sharing the same associated SNP), and facilitated fine-mapping of causal variants at previously reported loci. Taken together, these results may point to both shared and population-specific components to the genetic architecture of facial variation. © 2021 Liu et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s001.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s002.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s003.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s004.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s005.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s006.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s007.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s008.tif
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s009.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s010.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s011.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s012.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC8375984/bin/pgen.1009695.s013.pdf
Authors & Co-Authors
Lee, Myoungkeun
United States, Pittsburgh
University of Pittsburgh
Liu, Dongjing Jing
United States, Pittsburgh
University of Pittsburgh
Matthews, Harold S.
Belgium, Leuven
Ku Leuven
Australia, Melbourne
Murdoch Children's Research Institute
Li, Jiarui
Belgium, Leuven
Ku Leuven
Richmond, Stephen
United Kingdom, Cardiff
Cardiff University
Manyama, Mange F.
Qatar, Doha
Weill Cornell Medicine-qatar
Hallgrímsson, Benedikt
Canada, Calgary
Alberta Children's Hospital
Spritz, Richard A.
United States, Aurora
University of Colorado Anschutz Medical Campus
Feingold, E.
United States, Pittsburgh
University of Pittsburgh
Marazita, Mary Louise
United States, Pittsburgh
University of Pittsburgh
Wysocka, Joanna
United States, Palo Alto
Stanford University
United States, Chevy Chase
Howard Hughes Medical Institute
Shriver, Mark D.
United States, University Park
Pennsylvania State University
Claes, Peter D.
Belgium, Leuven
Ku Leuven
Australia, Melbourne
Murdoch Children's Research Institute
Weinberg, Seth M.
United States, Pittsburgh
University of Pittsburgh
Shaffer, John R.
United States, Pittsburgh
University of Pittsburgh
Statistics
Citations: 10
Authors: 15
Affiliations: 11
Identifiers
Doi:
10.1371/journal.pgen.1009695
ISSN:
15537390
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Cross Sectional Study
Cohort Study