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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

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dc.contributor.author Adhikari K. es_PE
dc.contributor.author Mendoza-Revilla J. es_PE
dc.contributor.author Sohail A. es_PE
dc.contributor.author Fuentes-Guajardo M. es_PE
dc.contributor.author Lampert J. es_PE
dc.contributor.author Chacón-Duque J.C. es_PE
dc.contributor.author Hurtado M. es_PE
dc.contributor.author Villegas V. es_PE
dc.contributor.author Granja V. es_PE
dc.contributor.author Acuña-Alonzo V. es_PE
dc.contributor.author Jaramillo C. es_PE
dc.contributor.author Arias W. es_PE
dc.contributor.author Lozano R.B. es_PE
dc.contributor.author Everardo P. es_PE
dc.contributor.author Gómez-Valdés J. es_PE
dc.contributor.author Villamil-Ramírez H. es_PE
dc.contributor.author Silva de Cerqueira C.C. es_PE
dc.contributor.author Hunemeier T. es_PE
dc.contributor.author Ramallo V. es_PE
dc.contributor.author Schuler-Faccini L. es_PE
dc.contributor.author Salzano F.M. es_PE
dc.contributor.author Gonzalez-José R. es_PE
dc.contributor.author Bortolini M.-C. es_PE
dc.contributor.author Canizales-Quinteros S. es_PE
dc.contributor.author Gallo C. es_PE
dc.contributor.author Poletti G. es_PE
dc.contributor.author Bedoya G. es_PE
dc.contributor.author Rothhammer F. es_PE
dc.contributor.author Tobin D.J. es_PE
dc.contributor.author Fumagalli M. es_PE
dc.contributor.author Balding D. es_PE
dc.contributor.author Ruiz-Linares A. es_PE
dc.date.accessioned 2024-05-30T23:13:38Z
dc.date.available 2024-05-30T23:13:38Z
dc.date.issued 2019
dc.description J.M.-R. was supported by a doctoral scholarship from CONCYTEC-PERU (224–2014-FONDECYT).
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 their split from Europeans.
dc.description.sponsorship Fondo Nacional de Desarrollo Científico y Tecnológico - Fondecyt
dc.identifier.doi https://doi.org/10.1038/s41467-018-08147-0
dc.identifier.scopus 2-s2.0-85060188734
dc.identifier.uri https://hdl.handle.net/20.500.12390/487
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Nature Communications
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/4.0/
dc.subject Melanin
dc.subject guanine nucleotide exchange factor es_PE
dc.subject amino acid substitution es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.title A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
dc.type info:eu-repo/semantics/article
dspace.entity.type Publication
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