In:
PLOS Genetics, Public Library of Science (PLoS), Vol. 17, No. 5 ( 2021-5-13), p. e1009528-
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1553-7404
DOI:
10.1371/journal.pgen.1009528
DOI:
10.1371/journal.pgen.1009528.g001
DOI:
10.1371/journal.pgen.1009528.g002
DOI:
10.1371/journal.pgen.1009528.g003
DOI:
10.1371/journal.pgen.1009528.g004
DOI:
10.1371/journal.pgen.1009528.s001
DOI:
10.1371/journal.pgen.1009528.s002
DOI:
10.1371/journal.pgen.1009528.s003
DOI:
10.1371/journal.pgen.1009528.s004
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10.1371/journal.pgen.1009528.s005
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10.1371/journal.pgen.1009528.s006
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10.1371/journal.pgen.1009528.s007
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10.1371/journal.pgen.1009528.s008
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10.1371/journal.pgen.1009528.s009
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10.1371/journal.pgen.1009528.s010
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10.1371/journal.pgen.1009528.s011
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10.1371/journal.pgen.1009528.s012
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10.1371/journal.pgen.1009528.s013
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10.1371/journal.pgen.1009528.s014
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10.1371/journal.pgen.1009528.s015
DOI:
10.1371/journal.pgen.1009528.s016
DOI:
10.1371/journal.pgen.1009528.s017
DOI:
10.1371/journal.pgen.1009528.s018
DOI:
10.1371/journal.pgen.1009528.s019
DOI:
10.1371/journal.pgen.1009528.s020
DOI:
10.1371/journal.pgen.1009528.s021
DOI:
10.1371/journal.pgen.1009528.s022
DOI:
10.1371/journal.pgen.1009528.s023
DOI:
10.1371/journal.pgen.1009528.s024
DOI:
10.1371/journal.pgen.1009528.s025
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2021
detail.hit.zdb_id:
2186725-2
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