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

Author

Listed:
  • 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
    National Institute of Anthropology and History)

  • 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
    Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica)

  • Gastón Macín Pérez

    (National Institute of Anthropology and History
    Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica)

  • 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
    Universidade Federal do Rio Grande do Sul)

  • 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
    Royal National Throat Nose and Ear Hospital)

  • Steve E. Humphries

    (Evolution and Environment, UCL Genetics Institute, University College London
    Centre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK)

  • 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
    Schools of BioSciences and Mathematics & Statistics, University of Melbourne)

  • Andrés Ruiz-Linares

    (Evolution and Environment, UCL Genetics Institute, University College London)

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.

Suggested Citation

  • 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 Pizar, 2015. "A genome-wide association study identifies multiple loci for variation in human ear morphology," Nature Communications, Nature, vol. 6(1), pages 1-10, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8500
    DOI: 10.1038/ncomms8500
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