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

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: col...

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Detalles Bibliográficos
Autores: Adhikari, Kaustubh, Fuentes Guajardo, Macarena, Quinto Sanchez, Mirsha Emmanuel, Mendoza Revilla, Javier, Chacon Duque, Juan Camilo, Acuña Alonzo, Víctor, Jaramillo, Claudia, Arias, William, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez Valdés, Jorge, Villamil Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio Cesar, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria Catira, Canizales Quinteros, Samuel, Cheeseman, Michael, Rosique, Javier, Bedoya Berrío, Gabriel, Rothhammer, Francisco, Headon, Denis, González José, Rolando, Balding, David, Ruiz Linares, Andrés
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/39487
Acceso en línea:http://hdl.handle.net/11336/39487
Access Level:acceso abierto
Palabra clave:genome-wide association studies
Population genetics
morphogenesis
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
Descripción
Sumario: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.

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