Admixture’s impact on Brazilian population evolution and health
Kelly Nunes, Marcos Araújo Castro e Silva, Maíra R. Rodrigues, Renan Barbosa Lemes, Patricio Pezo, Lilian Kimura, Lucas Schenatto Sena, José Eduardo Krieger, Margareth Catoia Varela, Luiz Otávio Azevedo, Luís Marcelo Aranha Camargo, Ricardo de Godoi Mattos Ferreira, Henrique Krieger, María Cátira Bortolini, José Geraldo Mill, Eliene Rodrigues Putira Sacuena, João Farias Guerreiro, Célia Mariana Barbosa de Souza, Francisco Veríssimo Veronese, Fernanda Sales Luiz Vianna, David Comas, Alexandre C. Pereira, Lygia V. Pereira, Tábita Hünemeier
Abstract
Brazil, the largest Latin American country, is underrepresented in genomic research despite boasting the world's largest recently admixed population. In this study, we generated 2723 high-coverage whole-genome sequences from the Brazilian population, including urban, rural, and riverine communities representing diverse ethnic backgrounds. We reveal the impressive genomic diversity of Brazilians, identifying >8 million previously unknown variants, including 36,637 predicted deleterious and potentially affecting population health. We found a positive correlation between these deleterious variants and ancestry. Brazilian genomes are a global haplotype mosaic shaped by nonrandom mating, with peak admixture in the 18th and 19th centuries. Within this diversity, ancestry-specific haplotypes exhibit an uneven spatiotemporal distribution. We also identified putatively selected genes in this diverse population, primarily linked to fertility, immune response, and metabolic traits.