title: A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
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.
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
authors.forename: Kaustubh
authors.initials: K
authors.lastname: Adhikari
authors.affiliation: Departamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
authors.forename: Tania
authors.initials: T
authors.lastname: Fontanil
authors.affiliation: Departamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
authors.forename: Santiago
authors.initials: S
authors.lastname: Cal
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Javier
authors.initials: J
authors.lastname: Mendoza-Revilla
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, Arica 1000009, Chile.
authors.forename: Macarena
authors.initials: M
authors.lastname: Fuentes-Guajardo
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
authors.forename: Juan-Camilo
authors.initials: JC
authors.lastname: Chacón-Duque
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
authors.forename: Farah
authors.initials: F
authors.lastname: Al-Saadi
authors.affiliation: Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
authors.forename: Jeanette A
authors.identifier: http://orcid.org/0000-0002-2581-9368
authors.initials: JA
authors.lastname: Johansson
authors.affiliation: Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
authors.forename: Mirsha
authors.initials: M
authors.lastname: Quinto-Sanchez
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.|National Institute of Anthropology and History, México 4510, México.
authors.forename: Victor
authors.initials: V
authors.lastname: Acuña-Alonzo
authors.affiliation: GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
authors.forename: Claudia
authors.initials: C
authors.lastname: Jaramillo
authors.affiliation: GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
authors.forename: William
authors.initials: W
authors.lastname: Arias
authors.affiliation: National Institute of Anthropology and History, México 4510, México.|Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Barquera Lozano
authors.affiliation: National Institute of Anthropology and History, México 4510, México.|Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
authors.forename: Gastón
authors.initials: G
authors.lastname: Macín Pérez
authors.affiliation: Facultad de Medicina, UNAM, México 4510, México.
authors.forename: Jorge
authors.initials: J
authors.lastname: Gómez-Valdés
authors.affiliation: Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
authors.forename: Hugo
authors.initials: H
authors.lastname: Villamil-Ramírez
authors.affiliation: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Tábita
authors.initials: T
authors.lastname: Hunemeier
authors.affiliation: Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.|Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Virginia
authors.initials: V
authors.lastname: Ramallo
authors.affiliation: Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.|Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Caio C
authors.initials: CC
authors.lastname: Silva de Cerqueira
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Malena
authors.initials: M
authors.lastname: Hurtado
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Valeria
authors.initials: V
authors.lastname: Villegas
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Vanessa
authors.initials: V
authors.lastname: Granja
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Carla
authors.initials: C
authors.lastname: Gallo
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
authors.forename: Giovanni
authors.initials: G
authors.lastname: Poletti
authors.affiliation: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schuler-Faccini
authors.affiliation: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Francisco M
authors.initials: FM
authors.lastname: Salzano
authors.affiliation: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
authors.forename: Maria-Cátira
authors.initials: MC
authors.lastname: Bortolini
authors.affiliation: Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
authors.forename: Samuel
authors.initials: S
authors.lastname: Canizales-Quinteros
authors.affiliation: Instituto de Alta Investigación, Universidad de Tarapacá, Arica 1000000, Chile.
authors.forename: Francisco
authors.initials: F
authors.lastname: Rothhammer
authors.affiliation: GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Bedoya
authors.affiliation: Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
authors.forename: Rolando
authors.initials: R
authors.lastname: Gonzalez-José
authors.affiliation: Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
authors.forename: Denis
authors.initials: D
authors.lastname: Headon
authors.affiliation: Departamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: López-Otín
authors.affiliation: Centre for Skin Sciences, Faculty of Life Sciences, University of Bradford, Bradford BD7 1DP, Victoria, UK.
authors.forename: Desmond J
authors.initials: DJ
authors.lastname: Tobin
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.|Schools of BioSciences and Mathematics and Statistics, University of Melbourne, Melbourne 3010, Australia.
authors.forename: David
authors.identifier: http://orcid.org/0000-0002-1480-6115
authors.initials: D
authors.lastname: Balding
authors.affiliation: Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
authors.forename: Andrés
authors.initials: A
authors.lastname: Ruiz-Linares
mesh_terms: D005145:Face / Q000502:physiology*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology*; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006197:Hair / Q000254:growth & development*; D006801:Humans; D008297:Male; D044469:Racial Groups; D012535:Scalp / Q000502:physiology*