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Publicacion

Titulo:	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
Autores:	ADHIKARI K MENDOZA-REVILLA J SOHAIL A FUENTES-GUAJARDO M LAMPERT J CHACON-DUQUE JC HURTADO M VILLEGAS V GRANJA V ACUNA-ALONZO V JARAMILLO C ARIAS W LOZANO RB EVERARDO P GOMEZ-VALDES J VILLAMIL-RAMIREZ H SILVA DE CERQUEIRA CC HUNEMEIER T RAMALLO V SCHULER-FACCINI L SALZANO FM GONZALEZ-JOSE R BORTOLINI MC SAMUEL CANIZALES QUINTEROS GALLO C POLETTI G BEDOYA G ROTHHAMMER F TOBIN DJ FUMAGALLI M BALDING D RUIZ-LINARES A
Tipo de Licencia:	http://creativecommons.org/licenses/by/4.0
Fecha de Publicación:	21 de Enero de 2019
Resumen:	We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
Editorial:	Nature Communications
Idioma:	Ingles
Palabras Clave:	Alleles Asian Continental Ancestry Group Biological Evolution Epistasis Genetic Ethnic Groups European Continental Ancestry Group Eye Color/genetics Female Gene Expression Gene Frequency Genetics Population Genome Human Genome-Wide Association Study Guanine Nucleotide Exchange Factors/genetics Humans Latin America Male Membrane Proteins/genetics Membrane Transport Proteins/genetics Polymorphism Single Nucleotide Quantitative Trait Loci Receptor Metabotropic Glutamate 5/genetics Skin Pigmentation/*genetics
URL:	https://repositorio.inmegen.gob.mx/record/465

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