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

Kaustubh Adhikari, Guillermo Reales, Andrew J. P. Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rosario Calderón, Javier Rosique, Michael Cheeseman, Mahmood F. Bhutta, Steve E. Humphries, Rolando Gonzalez-José, Denis Headon, David Balding and Andrés Ruiz-Linares ()
Additional contact information
Kaustubh Adhikari: Evolution and Environment, UCL Genetics Institute, University College London
Guillermo Reales: Evolution and Environment, UCL Genetics Institute, University College London
Andrew J. P. Smith: Centre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK
Esra Konka: Evolution and Environment, UCL Genetics Institute, University College London
Jutta Palmen: Centre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK
Mirsha Quinto-Sanchez: Centro Nacional Patagónico, CONICET
Victor Acuña-Alonzo: Evolution and Environment, UCL Genetics Institute, University College London
Claudia Jaramillo: GENMOL (Genética Molecular), Universidad de Antioquia
William Arias: GENMOL (Genética Molecular), Universidad de Antioquia
Macarena Fuentes: Instituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto
María Pizarro: Instituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto
Rodrigo Barquera Lozano: National Institute of Anthropology and History
Gastón Macín Pérez: National Institute of Anthropology and History
Jorge Gómez-Valdés: Facultad de Medicina, UNAM
Hugo Villamil-Ramírez: Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica
Tábita Hunemeier: Universidade Federal do Rio Grande do Sul
Virginia Ramallo: Centro Nacional Patagónico, CONICET
Caio C. Silva de Cerqueira: Universidade Federal do Rio Grande do Sul
Malena Hurtado: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia
Valeria Villegas: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia
Vanessa Granja: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia
Carla Gallo: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia
Giovanni Poletti: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia
Lavinia Schuler-Faccini: Universidade Federal do Rio Grande do Sul
Francisco M. Salzano: Universidade Federal do Rio Grande do Sul
Maria- Cátira Bortolini: Universidade Federal do Rio Grande do Sul
Samuel Canizales-Quinteros: Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica
Francisco Rothhammer: Instituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto
Gabriel Bedoya: GENMOL (Genética Molecular), Universidad de Antioquia
Rosario Calderón: Universidad Complutense de Madrid
Javier Rosique: Facultad de Ciencias Sociales y Humanas, Universidad de Antioquia
Michael Cheeseman: The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh
Mahmood F. Bhutta: UCL Ear Institute, University College London
Steve E. Humphries: Evolution and Environment, UCL Genetics Institute, University College London
Rolando Gonzalez-José: Centro Nacional Patagónico, CONICET
Denis Headon: The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh
David Balding: Evolution and Environment, UCL Genetics Institute, University College London
Andrés Ruiz-Linares: Evolution and Environment, UCL Genetics Institute, University College London

Nature Communications, 2015, vol. 6, issue 1, 1-10

Abstract: 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.

Date: 2015
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms8500 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8500

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms8500

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().