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dc.contributor.authorAdhikari, Kaustubh-
dc.contributor.authorFuentes Guajardo, Macarena-
dc.contributor.authorQuinto Sanchez, Mirsha Emmanuel-
dc.contributor.authorMendoza Revilla, Javier-
dc.contributor.authorChacón Duque, Juan Camilo-
dc.contributor.authorAcuña Alonzo, Victor-
dc.contributor.authorJaramillo, Claudia-
dc.contributor.authorArias Pérez, William Hernán-
dc.contributor.authorBarquera Lozano, Rodrigo-
dc.contributor.authorMacín Pérez, Gastón-
dc.contributor.authorGómez Valdés, Jorge-
dc.contributor.authorVillamil Ramírez, Hugo-
dc.contributor.authorRamallo, Virginia-
dc.contributor.authorSilva de Cerqueira, Caio Cesar-
dc.contributor.authorHurtado, Malena-
dc.contributor.authorGranja, Vanessa-
dc.contributor.authorGallo, Carla-
dc.contributor.authorPoletti, Giovanni-
dc.contributor.authorSchuler Faccini, Lavinia-
dc.contributor.authorSalzano, Francisco M.-
dc.contributor.authorCátira Bortolini, Maria-
dc.contributor.authorCanizales Quinteros, Samuel-
dc.contributor.authorCheeseman, Michael-
dc.contributor.authorRosique Gracia, Javier-
dc.contributor.authorBedoya Berrío, Gabriel de Jesús-
dc.contributor.authorRothhammer, Francisco-
dc.contributor.authorHeadon, Denis-
dc.contributor.authorGonzález Jose, Rolando-
dc.contributor.authorBalding, David-
dc.contributor.authorRuiz Linares, Andres-
dc.date.accessioned2019-08-09T19:40:23Z-
dc.date.available2019-08-09T19:40:23Z-
dc.date.issued2016-
dc.identifier.citationAdhikari, K., Fuentes Guajardo, M., Quinto Sanchez, M. E., Mendoza Revilla, J., Chacón Duque, J. C., & Acuña Alonzo, V. (2016). A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications, (7), 1-11. DOI: 10.1038/ncomms11616es_ES
dc.identifier.issn20411723 E-
dc.identifier.urihttp://hdl.handle.net/10495/11631-
dc.description.abstractWe report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 10 8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of B3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.es_ES
dc.format.extent1-11es_ES
dc.format.mimetypeapplication/pdfes_ES
dc.language.isoenes_ES
dc.type.hasversioninfo:eu-repo/semantics/publishedVersiones_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.sourceinstname: Universidad de Antioquiaes_ES
dc.sourcereponame: Repositorio Institucional Universidad de Antioquiaes_ES
dc.sourceNature Communicationses_ES
dc.subjectGenoma humanoes_ES
dc.subjectAntropología físicaes_ES
dc.subjectMorfología faciales_ES
dc.subjectLatinoamericanoses_ES
dc.titleA genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variationes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.publisher.groupGrupo de Investigación Medio Ambiente y Sociedad (MASO)es_ES
dc.identifier.doiDOI 10.1038/ncomms11616-
dc.relation.numero7es_ES
Aparece en las colecciones: CISH (Centro de Investigaciones Sociales y Humanas)

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