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

First Author  Adhikari K Year  2016
Journal  Nat Commun Volume  7
Pages  10815 PubMed ID  26926045
Mgi Jnum  J:236349 Mgi Id  MGI:5805761
Doi  10.1038/ncomms10815 Citation  Adhikari K, et al. (2016) A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun 7:10815
abstractText  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 x 10(-8) to 3 x 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.
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