Artículos de revistas
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
Fecha
2016-05Registro en:
Adhikari, Kaustubh; Fuentes Guajardo, Macarena; Quinto Sanchez, Mirsha Emmanuel; Mendoza Revilla, Javier; Chacon Duque, Juan Camilo; et al.; A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation; Nature; Nature Communications; 7; 5-2016; 1-11; 11616
2041-1723
CONICET Digital
CONICET
Autor
Adhikari, Kaustubh
Fuentes Guajardo, Macarena
Quinto Sanchez, Mirsha Emmanuel
Mendoza Revilla, Javier
Chacon Duque, Juan Camilo
Acuña Alonzo, Víctor
Jaramillo, Claudia
Arias, William
Barquera Lozano, Rodrigo
Macín Pérez, Gastón
Gómez Valdés, Jorge
Villamil Ramírez, Hugo
Hunemeier, Tábita
Ramallo, Virginia
Silva de Cerqueira, Caio Cesar
Hurtado, Malena
Villegas, Valeria
Granja, Vanessa
Gallo, Carla
Poletti, Giovanni
Schuler Faccini, Lavinia
Salzano, Francisco M.
Bortolini, Maria Catira
Canizales Quinteros, Samuel
Cheeseman, Michael
Rosique, Javier
Bedoya Berrío, Gabriel
Rothhammer, Francisco
Headon, Denis
González José, Rolando
Balding, David
Ruiz Linares, Andrés
Resumen
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.