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

作者：Adhikari Kaustubh; Fontanil Tania; Cal Santiago; Mendoza Revilla Javier; Fuentes Guajardo Macarena; Chacon Duque Juan Camilo; Al Saadi Farah; Johansson Jeanette A; Quinto Sanchez Mirsha; Acuna Alonzo Victor; Jaramillo Claudia; Arias William; Barquera Lozano Rodrigo; Macin Perez Gaston; Gomez Valdes Jorge; Villamil Ramirez Hugo; Hunemeier Tabita; Ramallo Virginia; Silva de Cerqueira Caio C; Hurtado Malena; Villegas Valeria; Granja Vanessa; Gallo Carla; Poletti Giovanni

来源：Nature Communications, 2016, 7(1): 10815.

DOI：10.1038/ncomms10815

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 x 10(-8) to 3 x 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.

• 出版日期2016-3