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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Author

Listed:
  • Kaustubh Adhikari

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

  • Tania Fontanil

    (IUOPA, Universidad de Oviedo)

  • Santiago Cal

    (IUOPA, Universidad de Oviedo)

  • Javier Mendoza-Revilla

    (Evolution and Environment, and UCL Genetics Institute, University College London
    Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • Macarena Fuentes-Guajardo

    (Evolution and Environment, and UCL Genetics Institute, University College London
    Facultad de Ciencias de la Salud, Universidad de Tarapacá)

  • Juan-Camilo Chacón-Duque

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

  • Farah Al-Saadi

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

  • Jeanette A. Johansson

    (Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh)

  • Mirsha Quinto-Sanchez

    (Centro Nacional Patagónico, CONICET)

  • Victor Acuña-Alonzo

    (Evolution and Environment, and UCL Genetics Institute, University College London
    National Institute of Anthropology and History)

  • Claudia Jaramillo

    (GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia)

  • William Arias

    (GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia)

  • 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
    Present address: Departamento de Genética e Biologia Evolutiva, Universidade de São Paulo, 05508-090, SP, Brasil)

  • Virginia Ramallo

    (Centro Nacional Patagónico, CONICET
    Universidade Federal do Rio Grande do Sul)

  • Caio C. Silva de Cerqueira

    (Centro Nacional Patagónico, CONICET
    Universidade Federal do Rio Grande do Sul)

  • Malena Hurtado

    (Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • Valeria Villegas

    (Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • Vanessa Granja

    (Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • Carla Gallo

    (Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • Giovanni Poletti

    (Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú)

  • 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)

  • Gabriel Bedoya

    (GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia)

  • Rolando Gonzalez-José

    (Centro Nacional Patagónico, CONICET)

  • Denis Headon

    (Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh)

  • Carlos López-Otín

    (IUOPA, Universidad de Oviedo)

  • Desmond J. Tobin

    (Centre for Skin Sciences, Faculty of Life Sciences, University of Bradford)

  • David Balding

    (Evolution and Environment, and UCL Genetics Institute, University College London
    Schools of BioSciences and Mathematics and Statistics, University of Melbourne)

  • Andrés Ruiz-Linares

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

Abstract

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

Suggested Citation

  • Kaustubh Adhikari & Tania Fontanil & Santiago Cal & Javier Mendoza-Revilla & Macarena Fuentes-Guajardo & Juan-Camilo Chacón-Duque & Farah Al-Saadi & Jeanette A. Johansson & Mirsha Quinto-Sanchez & Vic, 2016. "A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features," Nature Communications, Nature, vol. 7(1), pages 1-12, April.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10815
    DOI: 10.1038/ncomms10815
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    Cited by:

    1. Sabrina Katrin Henne & Rana Aldisi & Sugirthan Sivalingam & Lara Maleen Hochfeld & Oleg Borisov & Peter Michael Krawitz & Carlo Maj & Markus Maria Nöthen & Stefanie Heilmann-Heimbach, 2023. "Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss," Nature Communications, Nature, vol. 14(1), pages 1-13, December.

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