Title
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
Date Issued
19 May 2016
Access level
open access
Resource Type
journal article
Author(s)
Adhikari K.
Fuentes-Guajardo M.
Quinto-Sánchez M.
Camilo Chacón-Duque J.
Acuña-Alonzo V.
Jaramillo C.
Arias W.
Lozano R.B.
Pérez G.M.
Gómez-Valdés J.
Villamil-Ramírez H.
Hunemeier T.
Ramallo V.
Silva De Cerqueira C.C.
Hurtado M.
Granja V.
Schuler-Faccini L.
Salzano F.M.
Bortolini M.C.
Canizales-Quinteros S.
Cheeseman M.
Rosique J.
Bedoya G.
Rothhammer F.
Headon D.
González-José R.
Balding D.
Ruiz-Linares A.
Publisher(s)
Nature Publishing Group
Abstract
We report a genome-wide association scan for facial features in â 1/46,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10 â '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 â 1/43,000 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.
Volume
7
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-84970949897
PubMed ID
Source
Nature Communications
ISSN of the container
20411723
Sponsor(s)
Engineering and Physical Sciences Research Council - EP/C533542/1 EPSRC
Biotechnology and Biological Sciences Research Council- BB/I021213/1 BBSRC
Sources of information:
Directorio de Producción Científica
Scopus