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Título:
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A genome-wide association study identifies multiple loci for variation in human ear morphology
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Autores:
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Adhikari, Kaustubh ;
Reales, Guillermo ;
Smith, Andrew J. P. ;
Konka, Esra ;
Palmen, Jutta ;
Quinto-Sanchez, Mirsha ;
Acuna-Alonzo, Victor ;
Jaramillo, Claudia ;
Arias, William ;
Fuentes, Macarena ;
Pizarro, Maria ;
Barquera Lozano, Rodrigo ;
Macin Perez, Gaston ;
Gomez-Valdes, Jorge ;
Villamil-Ramirez, Hugo ;
Hunemeier, Tabita ;
Ramallo, Virginia ;
Silva de Cerqueira, Caio C. ;
Hurtado, Malena ;
Villegas, Valeria ;
Granja, Vanessa ;
Gallo, Carla ;
Poletti, Giovanni ;
Schuler-Faccini, Lavinia ;
Salzano, Francisco M. ;
Bortolini, Maria-Cátira ;
Canizales-Quinteros, Samuel ;
Rothhammer, Francisco ;
Bedoya, Gabriel ;
Calderon, Rosario ;
Rosique, Javier ;
Cheeseman, Michael ;
Bhutta, Mahmood F. ;
Humphries, Steve E. ;
González-José, Rolando ;
Headon, Denis ;
Balding, David ;
Ruiz-Linares, Andrés
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Tipo de documento:
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texto impreso
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Editorial:
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Nature Research, 2019-02-06T14:53:07Z
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Nota general:
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info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Idiomas:
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Inglés
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Palabras clave:
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Editados por otras instituciones
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Artículos
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Artículos en revistas indizadas
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Resumen:
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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 x 10(-8) to 3 x 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.
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En línea:
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http://doi.org/10.1038/ncomms8500
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