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Publicacion

Titulo:	A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
Autores:	BONFANTE B FAUX P NAVARRO N MENDOZA-REVILLA J DUBIED M MONTILLOT C WENTWORTH E POLONI L VARON-GONZALEZ C JONES P XIONG Z FUENTES-GUAJARDO M PALMAL S CHACON-DUQUE JC HURTADO M VILLEGAS V GRANJA V JARAMILLO C ARIAS W BARQUERA R EVERARDO-MARTINEZ P SANCHEZ-QUINTO M GOMEZ-VALDES J VILLAMIL-RAMIREZ H SILVA DE CERQUEIRA CC HUNEMEIER T RAMALLO V LIU F WEINBERG SM SHAFFER JR STERGIAKOULI E HOWE LJ HYSI PG SPECTOR TD GONZALEZ-JOSE R SCHULER-FACCINI L BORTOLINI MC ACUNA-ALONZO V SAMUEL CANIZALES QUINTEROS GALLO C POLETTI G BEDOYA G ROTHHAMMER F THAUVIN-ROBINET C FAIVRE L COSTEDOAT C BALDING D COX T KAYSER M DUPLOMB L YALCIN B COTNEY J ADHIKARI K RUIZ-LINARES A
Tipo de Licencia:	http://creativecommons.org/licenses/by-nc/4.0
Fecha de Publicación:	5 de Febrero de 2021
Resumen:	To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
Editorial:	Science advances
Idioma:	Ingles
Palabras Clave:	Animals Face/anatomy & histology Genome-Wide Association Study Genotype Hispanic or Latino/genetics Humans Mice Phenotype Polymorphism Single Nucleotide *Vesicular Transport Proteins/genetics
URL:	https://repositorio.inmegen.gob.mx/record/535

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