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A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
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A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
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Journal Article
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
2016
Overview
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (
P
values<5 × 10
−8
) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in
PAX3
. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the
EDAR
,
DCHS2
,
RUNX2
and
GLI3
genes, respectively. Associated SNPs in 20p11 extend to
PAX1
. Consistent with the effect of
EDAR
on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.
Humans show great diversity in facial appearance and this variation is highly heritable. Here, Andres Ruiz-Linares and colleagues examined facial features in admixed Latin Americans and identify genome-wide associations for 14 facial traits, including four gene loci (
RUNX2
,
GLI3
,
DCHS2
and
PAX1
) influencing nose morphology.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 64/60
/ Adult
/ Animals
/ Cadherin Related Proteins - genetics
/ Core Binding Factor Alpha 1 Subunit - genetics
/ Genes
/ Genome-Wide Association Study
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Maxillofacial Development - genetics
/ Mice
/ Nerve Tissue Proteins - genetics
/ Nose
/ Paired Box Transcription Factors - genetics
/ Polymorphism, Single Nucleotide
/ Science
