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...

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Detalhes bibliográficos
Autores: Jaramillo Alzate, Claudia Milena, Adhikari, Kaustubh, Fontanil, Tania, Cal, Santiago, Mendoza Revilla, Javier, Fuentes Guajardo, Macarena, Chacón Duque, Juan Camilo, Al Saadi, Farah, Johansson, Jeanette A, Quinto Sanchez, Mirsha, Acuña Alonzo, Victor, Arias Pérez, William Hernán, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez Valdés, Jorge, Villamil Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria Cátira, Canizales Quinteros, Samuel, Rothhammer, Francisco, Bedoya Berrío, Gabriel de Jesús, González José, Rolando, Headon, Denis, López Otín, Carlos, Tobin, Desmond J., Balding, David, Ruiz Linares, Andrés
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Colombia
Recursos:Universidad de Antioquia
Repositorio:Repositorio UdeA
Idioma:español
OAI Identifier:oai:bibliotecadigital.udea.edu.co:10495/34948
Acesso em linha:https://hdl.handle.net/10495/34948
Access Level:acceso abierto
Palavra-chave:Cara - fisiología
Face - physiology
Regulación de la Expresión Génica - fisiología
Gene Expression Regulation - physiology
Variación Genética
Genetic Variation
Estudio de Asociación del Genoma Completo
Genome-Wide Association Study
Cabello - crecimiento y desarrollo
Hair - growth and development
Grupos Raciales
Racial Groups
Cuero Cabelludo - fisiología
Scalp - physiology
Descrição
Resumo: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.

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