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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.

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