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

Adhikari, Kaustubh; Mendoza-Revilla, Javier; Sohail, Anood; Fuentes-Guajardo, Macarena; Lampert, Jodie; Chacón-Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Everardo, Paola; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hunemeier, Tábita; Ramallo, Virginia; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Gonzalez-José, Rolando; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Tobin, Desmond J.; Fumagalli, Matteo; Balding, David and Ruiz-Linares, Andrés (2019). A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. Nature Communications, 10, article no. 358.

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DOI (Digital Object Identifier) Link: https://doi.org/10.1038/s41467-018-08147-0
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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.

Item Type: Journal Item
Copyright Holders: 2019 The Author(s)
ISSN: 2041-1723
Keywords: Evolution; Genome-wide association studies; Quantitative trait
Academic Unit/School: Faculty of Science, Technology, Engineering and Mathematics (STEM) > Mathematics and Statistics
Faculty of Science, Technology, Engineering and Mathematics (STEM)
Item ID: 68435
Depositing User: Kaustubh Adhikari
Date Deposited: 10 Dec 2019 14:23
Last Modified: 31 Mar 2020 02:26
URI: http://oro.open.ac.uk/id/eprint/68435
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