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

ABSTRACT: We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 10 8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella...

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Detalles Bibliográficos
Autores: Adhikari, Kaustubh, Fuentes Guajardo, Macarena, Quinto Sánchez, Mirsha Emmanuel, Mendoza Revilla, Javier, Chacón Duque, Juan Camilo, Acuña Alonzo, Víctor, Jaramillo, Claudia, Arias Pérez, William Hernán, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez Valdés, Jorge, Villamil Ramírez, Hugo, Ramallo, Virginia, Silva de Cerqueira, Caio Cesar, Hurtado, Malena, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler Faccini, Lavinia, Salzano, Francisco M., Cátira Bortolini, Maria, Canizales Quinteros, Samuel, Cheeseman, Michael, Rosique Gracia, Javier, Bedoya Berrío, Gabriel de Jesús, Rothhammer, Francisco, Headon, Denis, González José, Rolando, Balding, David, Ruiz Linares, Andrés
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Colombia
Institución:Universidad de Antioquia
Repositorio:Repositorio UdeA
OAI Identifier:oai:bibliotecadigital.udea.edu.co:10495/11631
Acceso en línea:http://hdl.handle.net/10495/11631
Access Level:acceso abierto
Palabra clave:Genoma humano
Antropología física
Morfología facial
Latinoamericanos
Descripción
Sumario:ABSTRACT: We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 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 B3,000 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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