THE GENETIC BASIS OF VARIATION IN FACIAL AND SCALP HAIR: A GENOME-WIDE ASSOCIATION SCAN IN ADMIXED LATIN AMERICANS

ADHIKARI, K; CAL, S; FONTANIL-LÓPEZ, T; FUENTES, M; AL-SAADI, F; MENDOZA-REVILLA, J; QUINTO-SÁNCHEZ M; ACUÑA-ALONZO, V; JARAMILLO, C; ARIAS, W; PIZARRO, M; BARQUERA LOZANO, R; MACÍN PEREZ, G; GÓMEZ-VALDÉS J; VILLAMIL-RAMIREZ, H; HUNEMEIER, T; RAMALLO, V; SILVA DE CERQUEIRA, C; HURTADO M; VILLEGAS V; GRANJA V; GALLO C; POLETTI, G; SCHULER-FACCINI L; SALZANO, FM; BORTOLINI, MARIA CATIRA; CANIZALES-QUINTEROS, S; ROTHHAMMER, F; BEDOYA, G; GONZÁLEZ-JOSÉ, R; HEADON D; LÓPEZ-OTIN, C; TOBIN D; BALDING D; RUIZ-LINARES, A

NATURE COMMUNICATIONS

Macmillan Publishers Limited

Año: 2015

2041-1723

Here we report a genome-wide association scan in over 5,000 Latin Americans for features of scalp (curliness, color, graying) and facial hair (beard thickness, mono-brow, eye-brow thickness). We found genome-wide significant association at fourteen genomic regions with at least one of the traits examined (p-values 5×10-8 to 3×10-119). Two traits (scalp hair curliness and beard thickness) are associated with SNPs in the EctodysplasinA receptor gene region, a key regulator of embryonic skin appendage development. The other associated regions include novel loci for scalp hair curliness and the first reported loci for hair graying, mono-brow, and eye-brow and beard thickness. The novel variant associated with scalp hair curliness is a Q30R substitution in the Protease Serine S1 family member 53. We demonstrate that this enzyme is highly expressed in the hair follicle and that the Q30R substitution affects enzyme processing. Most of the associated regions show signals of selection, consistent with models regarding the evolution of human hair.