TY - JOUR
T1 - A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
AU - Adhikari, Kaustubh
AU - Fontanil, Tania
AU - Cal, Santiago
AU - Mendoza-Revilla, Javier
AU - Fuentes-Guajardo, Macarena
AU - Chacón-Duque, Juan Camilo
AU - Al-Saadi, Farah
AU - Johansson, Jeanette A.
AU - Quinto-Sanchez, Mirsha
AU - Acuña-Alonzo, Victor
AU - Jaramillo, Claudia
AU - Arias, William
AU - Lozano, Rodrigo Barquera
AU - Pérez, Gastón Macín
AU - Gómez-Valdés, Jorge
AU - Villamil-Ramírez, Hugo
AU - Hunemeier, Tábita
AU - Ramallo, Virginia
AU - De Cerqueira, Caio C.Silva
AU - Hurtado, Malena
AU - Villegas, Valeria
AU - Granja, Vanessa
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Schuler-Faccini, Lavinia
AU - Salzano, Francisco M.
AU - Bortolini, Maria Cátira
AU - Canizales-Quinteros, Samuel
AU - Rothhammer, Francisco
AU - Bedoya, Gabriel
AU - Gonzalez-José, Rolando
AU - Headon, Denis
AU - López-Otín, Carlos
AU - Tobin, Desmond J.
AU - Balding, David
AU - Ruiz-Linares, Andrés
PY - 2016/3/1
Y1 - 2016/3/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/84959515522
U2 - 10.1038/ncomms10815
DO - 10.1038/ncomms10815
M3 - Article
C2 - 26926045
AN - SCOPUS:84959515522
SN - 2041-1723
VL - 7
JO - Nature Communications
JF - Nature Communications
M1 - 10815
ER -