@article {309190,
	title = {A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.},
	journal = {Nat Commun},
	volume = {7},
	year = {2016},
	month = {05/2016},
	pages = {11616},
	abstract = {<p>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\&lt;5 {\texttimes} 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.</p>
},
	issn = {2041-1723},
	doi = {10.1038/ncomms11616},
	url = {http://www.nature.com/ncomms/2016/160519/ncomms11616/full/ncomms11616.html},
	author = {Adhikari, Kaustubh and Fuentes-Guajardo, Macarena and Quinto-S{\'a}nchez, Mirsha and Mendoza-Revilla, Javier and Camilo Chac{\'o}n-Duque, Juan and Acu{\~n}a-Alonzo, Victor and Jaramillo, Claudia and Arias, William and Lozano, Rodrigo Barquera and P{\'e}rez, Gast{\'o}n Mac{\'\i}n and G{\'o}mez-Vald{\'e}s, Jorge and Villamil-Ram{\'\i}rez, Hugo and H{\"u}nemeier, T{\'a}bita and Ramallo, Virginia and Silva de Cerqueira, Caio C and Hurtado, Malena and Villegas, Valeria and Granja, Vanessa and Gallo, Carla and Poletti, Giovanni and Schuler-Faccini, Lavinia and Salzano, Francisco M and Bortolini, Maria-C{\'a}tira and Canizales-Quinteros, Samuel and Cheeseman, Michael and Rosique, Javier and Bedoya, Gabriel and Rothhammer, Francisco and Headon, Denis and Gonz{\'a}lez-Jos{\'e}, Rolando and Balding, David and Ruiz-Linares, Andres}
}
