A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

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 inc...

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Detalles Bibliográficos
Autores principales: Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Quinto-Sánchez, Mirsha, Mendoza-Revilla, Javier, Camilo Chacón-Duque, Juan, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Pérez, Gastón Macín, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Cheeseman, Michael, Rosique, Javier, Bedoya, Gabriel, Rothhammer, Francisco, Headon, Denis, González-José, Rolando, Balding, David, Ruiz-Linares, Andrés
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874031/
https://www.ncbi.nlm.nih.gov/pubmed/27193062
http://dx.doi.org/10.1038/ncomms11616
Descripción
Sumario: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.

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