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

KAUSTUBH ADHIKARI; TANIA FONTANIL; SANTIAGO CAL; JAVIER MENDOZA-REVILLA; MACARENA FUENTES-GUAJARDO; JUAN-CAMILO CHACÓN-DUQUE; FARAH AL-SAADI; JEANETTE A. JOHANSSON; MIRSHA QUINTO-SANCHEZ; VICTOR ACUÑA-ALONZO; CLAUDIA JARAMILLO; WILLIAM ARIAS; RODRIGO BARQUERA LOZANO; GASTÓN MACÍN PÉREZ; JORGE GÓMEZ-VALDÉS; HUGO VILLAMIL-RAMÍREZ; TÁBITA HUNEMEIER; VIRGINIA RAMALLO; CAIO C. SILVA DE CERQUEIRA; MALENA HURTADO; VALERIA VILLEGAS; VANESSA GRANJA; CARLA GALLO; GIOVANNI POLETTI; LAVINIA SCHULER-FACCINI; FRANCISCO M. SALZANO; MARIA-CÁTIRA BORTOLINI; SAMUEL CANIZALES-QUINTEROS; FRANCISCO ROTHHAMMER; GABRIEL BEDOYA; ROLANDO GONZALEZ-JOSÉ; DENIS HEADON; CARLOS LÓPEZ-OTÍN; DESMOND J. TOBIN; DAVID BALDING; ANDRÉS RUIZ-LINARES

NATURE COMMUNICATIONS

Macmillan Publishers Limited

Año: 2016

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 SPs 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.