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

Kaustubh Adhikari, Javier Mendoza-Revilla, Anood Sohail, Macarena Fuentes-Guajardo, Jodie Lampert, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Paola Everardo, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hunemeier, Virginia Ramallo, Lavinia Schuler-Faccini, Francisco M. Salzano, Rolando Gonzalez-José, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Desmond J. Tobin, Matteo Fumagalli, David Balding and Andrés Ruiz-Linares ()
Additional contact information
Kaustubh Adhikari: University College London
Javier Mendoza-Revilla: University College London
Anood Sohail: Cambridge University
Macarena Fuentes-Guajardo: University College London
Jodie Lampert: University of Leicester
Juan Camilo Chacón-Duque: University College London
Malena Hurtado: Universidad Peruana Cayetano Heredia
Valeria Villegas: Universidad Peruana Cayetano Heredia
Vanessa Granja: Universidad Peruana Cayetano Heredia
Victor Acuña-Alonzo: University College London
Claudia Jaramillo: Universidad de Antioquia
William Arias: Universidad de Antioquia
Rodrigo Barquera Lozano: National Institute of Anthropology and History
Paola Everardo: National Institute of Anthropology and History
Jorge Gómez-Valdés: National Institute of Anthropology and History
Hugo Villamil-Ramírez: UNAM-Instituto Nacional de Medicina Genómica
Caio C. Silva de Cerqueira: Universidade Federal do Rio Grande do Sul
Tábita Hunemeier: Universidade Federal do Rio Grande do Sul
Virginia Ramallo: Universidade Federal do Rio Grande do Sul
Lavinia Schuler-Faccini: Universidade Federal do Rio Grande do Sul
Francisco M. Salzano: Universidade Federal do Rio Grande do Sul
Rolando Gonzalez-José: CONICET
Maria-Cátira Bortolini: Universidade Federal do Rio Grande do Sul
Samuel Canizales-Quinteros: UNAM-Instituto Nacional de Medicina Genómica
Carla Gallo: Universidad Peruana Cayetano Heredia
Giovanni Poletti: Universidad Peruana Cayetano Heredia
Gabriel Bedoya: Universidad de Antioquia
Francisco Rothhammer: Universidad de Tarapaca
Desmond J. Tobin: University of Bradford
Matteo Fumagalli: Imperial College London
David Balding: University College London
Andrés Ruiz-Linares: Fudan University

Nature Communications, 2019, vol. 10, issue 1, 1-16

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-018-08147-0

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