3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.
Adolescent
Biometric Identification
Child
Child, Preschool
Craniofacial Abnormalities
/ genetics
Datasets as Topic
Europe
/ ethnology
Face
/ abnormalities
Female
Genetic Association Studies
Genomics
Humans
Imaging, Three-Dimensional
Male
Multifactorial Inheritance
/ genetics
Phenotype
Siblings
White People
/ genetics
Journal
PLoS genetics
ISSN: 1553-7404
Titre abrégé: PLoS Genet
Pays: United States
ID NLM: 101239074
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
28
07
2020
accepted:
01
04
2021
entrez:
13
5
2021
pubmed:
14
5
2021
medline:
23
9
2021
Statut:
epublish
Résumé
The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17-0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing our knowledge on the genetic architecture of normal-range facial variation.
Identifiants
pubmed: 33983923
doi: 10.1371/journal.pgen.1009528
pii: PGENETICS-D-20-01171
pmc: PMC8118281
doi:
Banques de données
figshare
['10.6084/m9.figshare.7649024']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1009528Subventions
Organisme : NIDCR NIH HHS
ID : U01 DE024430
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : Medical Research Council
ID : G9815508
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_19009
Pays : United Kingdom
Organisme : NIDCR NIH HHS
ID : R01 DE027023
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIDCR NIH HHS
ID : U01 DE020078
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201200008C
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_15018
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 102215/2/13/2
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : HHSN268201200008I
Pays : United States
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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