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

• DOI: 10.1038/s41467-018-08147-0
• Publication Date: 2019-01-21T11:02:40Z
• Authors: Kaustubh Adhikari; Javier Mendoza-Re...; Anood Sohail; Macarena Fuentes-...; Jodie Lampert; Juan Camilo Chacó...; Malena Hurtado; Valeria Villegas; Vanessa Granja; Victor Acuña-Alonzo; Claudia Jaramillo; William Arias; Rodrigo Barquera ...; Paola Everardo; Jorge Gómez-Valdés; Hugo Villamil-Ram...; Caio C. Silva de ...; Tábita Hunemeier; Virginia Ramallo; Lavinia Schuler-F...; Francisco M. Salzano; Rolando Gonzalez-...; Maria-Cátira Bort...; Samuel Canizales-...; Carla Gallo; Giovanni Poletti; Gabriel Bedoya; Francisco Rothhammer; Desmond J. Tobin; Matteo Fumagalli; David Balding; Andrés Ruiz-Linares
• Keywords: Epistasis; Genome-wide Association Study; Genetic Association; 1000 Genomes Project

Abstract We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. found eighteen signals at twelve genomic regions. These include one novel locus (in 10q26) three loci eye 1q32, 20q13 22q12). demonstrate the presence multiple independent 11q14 15q13 regions (comprising GRM5/TYR HERC2/OCA2 genes, respectively) several epistatic interactions among independently associated alleles. Strongest with 19p13 was observed an Y182H missense variant (common only East Asians Native Americans) MFSD12 , gene recently Africans. show that frequency derived allele is significantly correlated lower solar radiation intensity Asia infer under selection Asians, probably after their split from Europeans.