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

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, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, 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, Rolando Gonzalez-José, Denis Headon, Carlos López-Otín, Desmond J. Tobin, David Balding and Andrés Ruiz-Linares ()
Additional contact information
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
Macarena Fuentes-Guajardo: Evolution and Environment, and UCL Genetics Institute, University College London
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
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
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: Centro Nacional Patagónico, CONICET
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
Andrés Ruiz-Linares: Evolution and Environment, and UCL Genetics Institute, University College London

Nature Communications, 2016, vol. 7, issue 1, 1-12

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms10815

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