DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Scalp hair shape. The EFO term hair shape measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: hair shape measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Adhikari, T Fontanil, S Cal, J Mendoza-Revilla, M Fuentes-Guajardo, JC Chacón-Duque, F Al-Saadi, JA Johansson, M Quinto-Sanchez, V Acuña-Alonzo, C Jaramillo, W Arias, R Barquera Lozano, G Macín Pérez, J Gómez-Valdés, H Villamil-Ramírez, T Hunemeier, V Ramallo, CC Silva de Cerqueira, M Hurtado, V Villegas, V Granja, C Gallo, G Poletti, L Schuler-Faccini, FM Salzano, MC Bortolini, S Canizales-Quinteros, F Rothhammer, G Bedoya, R Gonzalez-José, D Headon, C López-Otín, DJ Tobin, D Balding, A Ruiz-Linares

TITLE:

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

JOURNAL:

Nature communications Mar 2016, Vol 7, pp. 10815

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. PUBMED: 26926045
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