A genome-wide association study identifies multiple loci for variation in human ear morphology

ABSTRACT: Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 10 8 to 3 10 14). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.

• Autores: Jaramillo Alzate, Claudia Milena; Ruiz Linares, Andrés; Arias Pérez, William Hernán; Rosique Gracia, Javier; Bedoya Berrío, Gabriel de Jesús; Adhikari, Kaustubh; Headon, Denis; Balding, David; Reales, Guillermo; Smith, Andrew J. P.; Konka, Esra; Palmen, Jutta; Quinto Sánchez, Mirsha; Acuña Alonzo, Víctor; Fuentes, Macarena; Pizarro, María; 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 Cátira; Canizales Quinteros, Samuel; Rothhammer, Francisco; Calderón, Rosario; Cheeseman, Michael; Bhutta, Mahmood F.; Humphries, Steve E.; González José, Rolando
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2015
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: spa
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/8477
• Acceso en línea: http://hdl.handle.net/10495/8477
• Palabra clave: Indios Norteamericanos o Nativos de Alaska; American Indians or Alaska Natives; Cell Line, Tumor; Línea Celular Tumoral; Ear Auricle; Pabellón Auricular; Edar Receptor; Receptor Edar; Genome-Wide Association Study; Estudio de Asociación del Genoma Completo; Genotype; Genotipo; Polymorphism, Single Nucleotide; Polimorfismo de Nucleótido Simple; T-Box Domain Proteins; Proteínas de Dominio T Box; White People
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/2.5/co/