2016/05/19 by Kaustubh Adhikari, Macarena Fuentes‐Guajardo, Mirsha Quinto‐Sánchez +29 · 210 citations
Biochemistry, Genetics and Molecular Biology · #dental development and anomalies #Genomics and Chromatin Dynamics #Cleft Lip and Palate Research #Genetics #Single-nucleotide polymorphism #Biology #Nasion #Chin #Genome-wide association study #Evolutionary biology #Genotype #Gene #Anatomy
paper · pdf · doi:10.1038/ncomms11616
published in Nature Communications 7(1), 11616 (Nature Portfolio)
openalex publication_date 2016/05/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/05
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.