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Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815.

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

Author information

1
Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
2
Departamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
3
Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
4
Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, Arica 1000009, Chile.
5
Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
6
Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
7
National Institute of Anthropology and History, México 4510, México.
8
GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
9
Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
10
Facultad de Medicina, UNAM, México 4510, México.
11
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
12
Instituto de Alta Investigación, Universidad de Tarapacá, Arica 1000000, Chile.
13
Centre for Skin Sciences, Faculty of Life Sciences, University of Bradford, Bradford BD7 1DP, Victoria, UK.
14
Schools of BioSciences and Mathematics and Statistics, University of Melbourne, Melbourne 3010, Australia.

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.

PMID:
26926045
PMCID:
PMC4773514
DOI:
10.1038/ncomms10815
[Indexed for MEDLINE]
Free PMC Article

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