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Nature Research, Nature Communications, 1(7), 2016

DOI: 10.1038/ncomms10815

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

Journal article published in 2016 by Kaustubh Adhikari, Tania Fontanil, Santiago Cal, Javier Mendoza-Revilla ORCID, Macarena Fuentes-Guajardo, Juan-Camilo Chacón-Duque ORCID, Farah Al-Saadi, Jeanette A. Johansson ORCID, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias ORCID, Rodrigo Barquera Lozano, Rodrigo Barquera Lozano, Gastón Macín Pérez and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractWe 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.