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

dc.creatorJaramillo Alzate, Claudia Milena
dc.creatorAdhikari, Kaustubh
dc.creatorFontanil, Tania
dc.creatorCal, Santiago
dc.creatorMendoza Revilla, Javier
dc.creatorFuentes Guajardo, Macarena
dc.creatorChacón Duque, Juan Camilo
dc.creatorAl Saadi, Farah
dc.creatorJohansson, Jeanette A
dc.creatorQuinto Sanchez, Mirsha
dc.creatorAcuña Alonzo, Victor
dc.creatorArias Pérez, William Hernán
dc.creatorBarquera Lozano, Rodrigo
dc.creatorMacín Pérez, Gastón
dc.creatorGómez Valdés, Jorge
dc.creatorVillamil Ramírez, Hugo
dc.creatorHunemeier, Tábita
dc.creatorRamallo, Virginia
dc.creatorSilva de Cerqueira, Caio C.
dc.creatorHurtado, Malena
dc.creatorVillegas, Valeria
dc.creatorGranja, Vanessa
dc.creatorGallo, Carla
dc.creatorPoletti, Giovanni
dc.creatorSchuler Faccini, Lavinia
dc.creatorSalzano, Francisco M.
dc.creatorBortolini, Maria Cátira
dc.creatorCanizales Quinteros, Samuel
dc.creatorRothhammer, Francisco
dc.creatorBedoya Berrío, Gabriel de Jesús
dc.creatorGonzález José, Rolando
dc.creatorHeadon, Denis
dc.creatorLópez Otín, Carlos
dc.creatorTobin, Desmond J.
dc.creatorBalding, David
dc.creatorRuiz Linares, Andrés
dc.date2023-05-10T16:47:35Z
dc.date2023-05-10T16:47:35Z
dc.date2016
dc.date.accessioned2024-04-23T18:17:30Z
dc.date.available2024-04-23T18:17:30Z
dc.identifierAdhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815.
dc.identifierhttps://hdl.handle.net/10495/34948
dc.identifier10.1038/ncomms10815
dc.identifier2041-1723
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/9230632
dc.descriptionABSTRACT: 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.
dc.descriptionCOL0006723
dc.format12
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languagespa
dc.publisherNature Research
dc.publisherGenética Molecular (GENMOL)
dc.publisherLondres, Inglaterra
dc.relationNat. Commun.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectCara - fisiología
dc.subjectFace - physiology
dc.subjectRegulación de la Expresión Génica - fisiología
dc.subjectGene Expression Regulation - physiology
dc.subjectVariación Genética
dc.subjectGenetic Variation
dc.subjectEstudio de Asociación del Genoma Completo
dc.subjectGenome-Wide Association Study
dc.subjectCabello - crecimiento y desarrollo
dc.subjectHair - growth and development
dc.subjectGrupos Raciales
dc.subjectRacial Groups
dc.subjectCuero Cabelludo - fisiología
dc.subjectScalp - physiology
dc.titleA genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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