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 (1) , Claudia Jaramillo , William Arias , Rodrigo Barquera Lozano , Paola Everardo , Jorge Gómez-Valdés , Hugo Villamil-Ramírez , Caio Silva de Cerqueira , Tábita Hünemeier (2) , Virginia Ramallo , Lavinia Schuler-Faccini , Francisco Salzano , Rolando González-José (3) , Maria-Cátira Bortolini , Samuel Canizales-Quinteros (4) , Carla Gallo (5) , Giovanni Poletti (5) , Gabriel Bedoya (5) , Francisco Rothhammer (6) , Desmond J. Tobin (7) , Matteo Fumagalli (8) , David Balding , Andrés Ruiz-Linares (8)

1 Molecular Genetics Laboratory
2 Departamento de Genética
3 CONICET - Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires]
4 Unit of Molecular Biology and Genomic Medicine
5 Laboratorio de Genética Molecular
6 Facultad de Medicina & Instituto de Alta Investigacion
7 Center for Skin Sciences
8 UCL-GEE - Dept of Genetics, Evolution and Environment [London]

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.

Domaines: Sciences du Vivant [q-bio]

Kaustubh Adhikari, Javier Mendoza-Revilla, Anood Sohail, Macarena Fuentes-Guajardo, Jodie Lampert, et al.. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. Nature Communications, 2019, 10 (1), pp.358. ⟨10.1038/s41467-018-08147-0⟩. ⟨hal-02052560⟩