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dc.contributor.authorAdhikari, K
dc.contributor.authorFontanil, T
dc.contributor.authorCal, S
dc.contributor.authorMendoza-Revilla, J
dc.contributor.authorFuentes-Guajardo, M
dc.contributor.authorChacon-Duque, J-C
dc.contributor.authorAl-Saadi, F
dc.contributor.authorJohansson, JA
dc.contributor.authorQuinto-Sanchez, M
dc.contributor.authorAcuna-Alonzo, V
dc.contributor.authorJaramillo, C
dc.contributor.authorArias, W
dc.contributor.authorBarquera Lozano, R
dc.contributor.authorMacin Perez, G
dc.contributor.authorGomez-Valdes, J
dc.contributor.authorVillamil-Ramirez, H
dc.contributor.authorHunemeier, T
dc.contributor.authorRamallo, V
dc.contributor.authorSilva de Cerqueira, CC
dc.contributor.authorHurtado, M
dc.contributor.authorVillegas, V
dc.contributor.authorGranja, V
dc.contributor.authorGallo, C
dc.contributor.authorPoletti, G
dc.contributor.authorSchuler-Faccini, L
dc.contributor.authorSalzano, FM
dc.contributor.authorBortolini, M-C
dc.contributor.authorCanizales-Quinteros, S
dc.contributor.authorRothhammer, F
dc.contributor.authorBedoya, G
dc.contributor.authorGonzalez-Jose, R
dc.contributor.authorHeadon, D
dc.contributor.authorLopez-Otin, C
dc.contributor.authorTobin, DJ
dc.contributor.authorBalding, D
dc.contributor.authorRuiz-Linares, A
dc.date.accessioned2021-02-05T01:05:16Z
dc.date.available2021-02-05T01:05:16Z
dc.date.issued2016-03-01
dc.identifierpii: ncomms10815
dc.identifier.citationAdhikari, K., Fontanil, T., Cal, S., Mendoza-Revilla, J., Fuentes-Guajardo, M., Chacon-Duque, J. -C., Al-Saadi, F., Johansson, J. A., Quinto-Sanchez, M., Acuna-Alonzo, V., Jaramillo, C., Arias, W., Barquera Lozano, R., Macin Perez, G., Gomez-Valdes, J., Villamil-Ramirez, H., Hunemeier, T., Ramallo, V., Silva de Cerqueira, C. C. ,... Ruiz-Linares, A. (2016). A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. NATURE COMMUNICATIONS, 7 (1), https://doi.org/10.1038/ncomms10815.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11343/260265
dc.description.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.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleA genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
dc.typeJournal Article
dc.identifier.doi10.1038/ncomms10815
melbourne.affiliation.departmentSchool of Mathematics and Statistics
melbourne.affiliation.facultyScience
melbourne.source.titleNature Communications
melbourne.source.volume7
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1046443
melbourne.contributor.authorBalding, David
dc.identifier.eissn2041-1723
melbourne.accessrightsOpen Access


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