Produção Nacional
Revisado por pares
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
2016; Nature Portfolio; Volume: 7; Issue: 1 Linguagem: Inglês
10.1038/ncomms10815
ISSN2041-1723
AutoresKaustubh Adhikari, Tania Fontanil, Santiago Cal, Javier Mendoza‐Revilla, Macarena Fuentes‐Guajardo, Juan Camilo Chacón-Duque, Farah Al-Saadi, Jeanette A. Johansson, Mirsha Quinto‐Sánchez, Víctor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera, Gastón Macín Pérez, Jorge Gómez‐Valdés, Hugo Villamil‐Ramírez, Tábita Hünemeier, Virgínia Ramallo, Caio César Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavínia Schüler‐Faccini, Francisco M. Salzano, María Cátira Bortolini, Samuel Canizales‐Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rolando González‐José, Denis J. Headon, Carlos López-Otı́n, Desmond J. Tobin, David J. Balding, Andrés Ruiz‐Linares,
Tópico(s)Cancer-related molecular mechanisms research
ResumoAbstract 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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