Admixture's impact on Brazilian population evolution and health

• 成果类型: Article
• 署名作者: Nunes, Kelly; Castro e Silva, Marcos Araujo; Rodrigues, Maira R.; Lemes, Renan Barbosa; Pezo-Valderrama, Patricio; Kimura, Lilian; de Sena, Lucas Schenatto; Krieger, Jose Eduardo; Varela, Margareth Catoia; de Azevedo, Luiz Otavio; Camargo, Luis Marcelo Aranha; Ferreira, Ricardo G. M.; Krieger, Henrique; Bortolini, Maria Catira; Mill, Jose Geraldo; Sacuena, Putira; Guerreiro, Joao F.; de Souza, Celia M. B.; Veronese, Francisco V.; Vianna, Fernanda S. L.; Comas, David; Pereira, Alexandre C.; Pereira, Lygia V.; Hunemeier, Tabita
• 署名单位: Universidade de Sao Paulo; Consejo Superior de Investigaciones Cientificas (CSIC); CSIC-UPF - Institut de Biologia Evolutiva (IBE); Pompeu Fabra University; Consejo Superior de Investigaciones Cientificas (CSIC); CSIC-UPF - Institut de Biologia Evolutiva (IBE); Pompeu Fabra University; Universidade de Sao Paulo; Fundacao Oswaldo Cruz; Fundacao Oswaldo Cruz; Universidade de Sao Paulo; Universidade Federal do Rio Grande do Sul; Universidade Federal do Espirito Santo; Universidade Federal do Para; Hospital de Clinicas de Porto Alegre; Harvard University; Harvard Medical School
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-13773
• DOI: 10.1126/science.adl3564
• 发表日期: 2025-05-15
• 关键词: gene pool; selection; ancestry; diversity; homozygosity; adaptations; association; southern; accuracy; DYNAMICS

摘要

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.