A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
Author
dc.contributor.author
Adhikari, Kaustubh
Author
dc.contributor.author
Mendoza-Revilla, Javier
Author
dc.contributor.author
Sohail, Anood
Author
dc.contributor.author
Fuentes Guajardo, Macarena
Author
dc.contributor.author
Lampert, Jodie
Author
dc.contributor.author
Chacón-Duque, Juan Camilo
Author
dc.contributor.author
Hurtado, Malena
Author
dc.contributor.author
Villegas, Valeria
Author
dc.contributor.author
Granja, Vanessa
Author
dc.contributor.author
Acuña-Alonzo, Victor
Author
dc.contributor.author
Jaramillo, Claudia
Author
dc.contributor.author
Arias, William
Author
dc.contributor.author
Lozano, Rodrigo Barquera
Author
dc.contributor.author
Admission date
dc.date.accessioned
2019-10-15T12:23:34Z
Available date
dc.date.available
2019-10-15T12:23:34Z
Publication date
dc.date.issued
2019
Cita de ítem
dc.identifier.citation
Nature Communications, Volumen 10, Issue 1, 2019,
Identifier
dc.identifier.issn
20411723
Identifier
dc.identifier.other
10.1038/s41467-018-08147-0
Identifier
dc.identifier.uri
https://repositorio.uchile.cl/handle/2250/171572
Abstract
dc.description.abstract
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 the