TY - JOUR
T1 - A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
AU - Adhikari, Kaustubh
AU - Fuentes-Guajardo, Macarena
AU - Quinto-Sánchez, Mirsha
AU - Mendoza-Revilla, Javier
AU - Camilo Chacón-Duque, Juan
AU - Acuña-Alonzo, Victor
AU - Jaramillo, Claudia
AU - Arias, William
AU - Lozano, Rodrigo Barquera
AU - Pérez, Gastón Macín
AU - Gómez-Valdés, Jorge
AU - Villamil-Ramírez, Hugo
AU - Hunemeier, Tábita
AU - Ramallo, Virginia
AU - Silva De Cerqueira, Caio C.
AU - Hurtado, Malena
AU - Villegas, Valeria
AU - Granja, Vanessa
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Schuler-Faccini, Lavinia
AU - Salzano, Francisco M.
AU - Bortolini, Maria Cátira
AU - Canizales-Quinteros, Samuel
AU - Cheeseman, Michael
AU - Rosique, Javier
AU - Bedoya, Gabriel
AU - Rothhammer, Francisco
AU - Headon, Denis
AU - González-José, Rolando
AU - Balding, David
AU - Ruiz-Linares, Andrés
PY - 2016/5/19
Y1 - 2016/5/19
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/84970949897
U2 - 10.1038/ncomms11616
DO - 10.1038/ncomms11616
M3 - Article
C2 - 27193062
AN - SCOPUS:84970949897
SN - 2041-1723
VL - 7
JO - Nature Communications
JF - Nature Communications
M1 - 11616
ER -