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

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  • Kaustubh Adhikari
  • Macarena Fuentes-Guajardo
  • Mirsha Quinto-Sánchez
  • Javier Mendoza-Revilla
  • Juan Camilo Chacón-Duque
  • Victor Acuña-Alonzo
  • Claudia Jaramillo
  • William Arias
  • Rodrigo Barquera Lozano
  • Gastón Macín Pérez
  • Jorge Gómez-Valdés
  • Hugo Villamil-Ramírez
  • Tábita Hunemeier
  • Virginia Ramallo
  • Caio C Silva de Cerqueira
  • Malena Hurtado
  • Valeria Villegas
  • Vanessa Granja
  • Carla Gallo
  • Giovanni Poletti
  • Lavinia Schuler-Faccini
  • Francisco M Salzano
  • Maria-Cátira Bortolini
  • Samuel Canizales-Quinteros
  • Javier Rosique
  • Gabriel Bedoya
  • Francisco Rothhammer
  • Rolando González-José
  • David Balding
  • Andrés Ruiz-Linares

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Original languageEnglish
Article number11616
JournalNature Communications
Publication statusPublished - 19 May 2016


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.

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