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Prof Des Tobin is co-author on a top 100 ranked paper in Altmetric

Published: 13/12/2016
Prof Des Tobin is co-author on a top 100 ranked paper in Altmetric

A recent Nature Communications paper with research contribution from Tobin's lab has been ranked #85 in Almetric top 100 for 2016 (of 2.7 million papers).

The study was from the CANDELA cohort, a large (6630) admixed South American population with European, Native American and African ancestry (Adhikari, Fontanil et al. 2016). 



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 5x108 to 3x10119), 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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