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 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.

• Autores: 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
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2016
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/11631
• Acceso en línea: http://hdl.handle.net/10495/11631
• Palabra clave: 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
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/2.5/co/