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: Headon, Denis; Balding, David; Ruiz Linares, Andrés
• 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; http://doi.org/10.1038/ncomms8500
• Palabra clave: Cartílago; Genética; Genómica; Genotipo; Haplotipos
• Rights: openAccess
• License: Atribución-NoComercial-SinDerivadas 2.5 Colombia