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Título : A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
Autor : 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
Palabras clave : Genoma humano
Antropología física
Morfología facial
Latinoamericanos
Fecha de publicación : 2016
Citación : Adhikari, K., Fuentes Guajardo, M., Quinto Sanchez, M. E., Mendoza Revilla, J., Chacón Duque, J. C., & Acuña Alonzo, V. (2016). A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications, (7), 1-11. DOI: 10.1038/ncomms11616
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.
Grupo de INV. : Grupo de Investigación Medio Ambiente y Sociedad (MASO)
URI : http://hdl.handle.net/10495/11631
ISSN : 20411723 E
Aparece en las colecciones: CISH (Centro de Investigaciones Sociales y Humanas)

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