info:eu-repo/semantics/article
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
Registro en:
Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815.
10.1038/ncomms10815
2041-1723
Autor
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
Institución
Resumen
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. COL0006723