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

作者：Kaustubh Adhikari, Javier Mendoza‐Revilla, Anood Sohail, Macarena Fuentes‐Guajardo, Jodie E. Lampert, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Víctor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo, Jorge Gómez‐Valdés, Hugo Villamil‐Ramírez, Caio César Silva de Cerqueira, Tábita Hünemeier, Virgínia Ramallo, Lavínia Schüler‐Faccini, Francisco M. Salzano, Rolando González‐José, María Cátira Bortolini, Samuel Canizales‐Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Desmond J. Tobin, Matteo Fumagalli, David J. Balding, Andrés Ruiz‐Linares · 发表于：Nature Communications · 年份：2019 · DOI：10.1038/s41467-018-08147-0 · 被引用次数：206 · 研究领域：melanin and skin pigmentation、Skin Protection and Aging、Connexins and lens biology

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.