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dc.contributor.authorAdhikari, Kaustubhpt_BR
dc.contributor.authorFuentes Guajardo, Macarenapt_BR
dc.contributor.authorQuinto Sanchez, Mirshapt_BR
dc.contributor.authorMendoza Revilla, Javierpt_BR
dc.contributor.authorChacón Duque, Juan Camilopt_BR
dc.contributor.authorAcunã Alonzo, Víctorpt_BR
dc.contributor.authorJaramillo, Claudiapt_BR
dc.contributor.authorArias, Williampt_BR
dc.contributor.authorBarquera Lozano, Rodrigopt_BR
dc.contributor.authorMacín Pérez, Gastónpt_BR
dc.contributor.authorGómez Valdés, Jorge A.pt_BR
dc.contributor.authorVillamil Ramírez, Hugopt_BR
dc.contributor.authorHunemeier, Tábitapt_BR
dc.contributor.authorRamallo, Virgíniapt_BR
dc.contributor.authorCerqueira, Caio Cesar Silva dept_BR
dc.contributor.authorHurtado, Malenapt_BR
dc.contributor.authorVillegas, Valeriapt_BR
dc.contributor.authorGranja, Vanessapt_BR
dc.contributor.authorGallo, Carlapt_BR
dc.contributor.authorPoletti, Giovannipt_BR
dc.contributor.authorFaccini, Lavinia Schulerpt_BR
dc.contributor.authorSalzano, Francisco Mauropt_BR
dc.contributor.authorBortolini, Maria Cátirapt_BR
dc.contributor.authorCanizales-Quinteros, Samuelpt_BR
dc.contributor.authorCheeseman, Michaelpt_BR
dc.contributor.authorRosique, Javierpt_BR
dc.contributor.authorBedoya, Gabrielpt_BR
dc.contributor.authorRothhammer, Franciscopt_BR
dc.contributor.authorHeadon, Denispt_BR
dc.contributor.authorGonzález-José, Rolandopt_BR
dc.contributor.authorBalding, Davidpt_BR
dc.contributor.authorRuiz-Linares, Andrespt_BR
dc.date.accessioned2022-08-31T04:56:05Zpt_BR
dc.date.issued2016pt_BR
dc.identifier.issn2041-1723pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/248329pt_BR
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.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofNature Communications. London. Vol. 7, n. 11616 (Maio 2016), 11 p.pt_BR
dc.rightsOpen Accessen
dc.subjectFacept_BR
dc.subjectGenoma humanopt_BR
dc.titleA genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variationpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001016561pt_BR
dc.type.originEstrangeiropt_BR


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