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https://hdl.handle.net/10495/11631| Título : | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| Autor : | Jaramillo Alzate, Claudia Milena Arias Pérez, William Hernán Rosique Gracia, Javier Bedoya Berrío, Gabriel de Jesús Ruiz Linares, Andrés Adhikari, Kaustubh Fuentes Guajardo, Macarena Quinto Sánchez, Mirsha Emmanuel Mendoza Revilla, Javier Chacón Duque, Juan Camilo Acuña Alonzo, Víctor 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 Rothhammer, Francisco Headon, Denis González José, Rolando Balding, David |
| metadata.dc.subject.*: | Anatomic Variation Variación Anatómica Cadherin Related Proteins Proteínas Relacionadas con las Cadherinas Core Binding Factor Alpha 1 Subunit Subunidad alfa 1 del Factor de Unión al Sitio Principal Edar Receptor Receptor Edar Genome-Wide Association Study Estudio de Asociación del Genoma Completo Latin America América Latina Maxillofacial Development Desarrollo Maxilofacial Nerve Tissue Proteins Proteínas del Tejido Nervioso Paired Box Transcription Factors Factores de Transcripción Paired Box Polymorphism, Single Nucleotide Polimorfismo de Nucleótido Simple Zinc Finger Protein Gli3 Proteína Gli3 con Dedos de Zinc |
| Fecha de publicación : | 2016 |
| Editorial : | Nature Research |
| 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 |
| Resumen : | 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. |
| metadata.dc.identifier.eissn: | 2041-1723 |
| metadata.dc.identifier.doi: | 10.1038/ncomms11616 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Sociales |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| KaustubhAdhikeri_2016_GenomeWideAssociation.pdf | Artículo de investigación | 1.42 MB | Adobe PDF | Visualizar/Abrir |
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