Nunes Kelly, Araújo Castro E Silva Marcos, Rodrigues Maíra R, Lemes Renan Barbosa, Pezo-Valderrama Patricio, Kimura Lilian, de Sena Lucas Schenatto, Krieger José Eduardo, Catoia Varela Margareth, de Azevedo Luiz Otávio, Aranha Camargo Luis Marcelo, Ferreira Ricardo G M, Krieger Henrique, Bortolini Maria Cátira, Mill José Geraldo, Sacuena Putira, Guerreiro João F, de Souza Celia M B, Veronese Francisco V, Vianna Fernanda S L, Comas David, Pereira Alexandre C, Pereira Lygia V, Hünemeier Tábita
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
Institut de Biologia Evolutiva, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
Science. 2025 May 15;388(6748):eadl3564. doi: 10.1126/science.adl3564.
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.
巴西是拉丁美洲最大的国家，尽管拥有世界上最大的近期混合人口群体，但在基因组研究中的代表性不足。在本研究中，我们从巴西人群中生成了2723个高覆盖度全基因组序列，其中包括代表不同种族背景的城市、农村和河流社区人群。我们揭示了巴西人令人印象深刻的基因组多样性，鉴定出超过800万个此前未知的变异，其中包括36637个预测有害且可能影响人群健康的变异。我们发现这些有害变异与祖先血统之间存在正相关。巴西人的基因组是由非随机交配塑造的全球单倍型镶嵌体，在18和19世纪出现混合高峰。在这种多样性中，特定祖先的单倍型呈现出不均匀的时空分布。我们还在这个多样化的人群中鉴定出了可能受到选择的基因，主要与生育能力、免疫反应和代谢特征相关。
