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, Andrés Ruiz-Linares
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...
January 21, 2019: Nature Communications