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

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),...

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Detalles Bibliográficos
Autores: 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 Emmanuel, Acuña Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez Valdés, Jorge, Villamil Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio Cesar, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria Catira, Canizales Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, González José, Rolando, Headon, Denis, López Otín, Carlos, Tobin, Desmond J., Balding, David, Ruiz Linares, Andrés
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/39187
Acceso en línea:http://hdl.handle.net/11336/39187
Access Level:acceso abierto
Palabra clave:genome-wide association studies
population genetics
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
Descripción
Sumario: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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