A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Journal
Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
05
05
2020
accepted:
17
12
2020
entrez:
6
2
2021
pubmed:
7
2
2021
medline:
12
4
2022
Statut:
epublish
Résumé
To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
Identifiants
pubmed: 33547071
pii: 7/6/eabc6160
doi: 10.1126/sciadv.abc6160
pmc: PMC7864580
pii:
doi:
Substances chimiques
VPS13B protein, human
0
Vesicular Transport Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCR NIH HHS
ID : R00 DE024194
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE027023
Pays : United States
Organisme : NIDCR NIH HHS
ID : U01 DE020078
Pays : United States
Informations de copyright
Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
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