在这项研究中，该课题组研究人员从巴西人口中生成了2723个高覆盖率的全基因组序列，包括代表不同种族背景的城市、农村和河流社区。课题组揭示了巴西人令人印象深刻的基因组多样性，确定了800万个以前未知的变异，包括36637个预测的有害变异，并可能影响人口健康。课题组人员发现这些变异与祖先之间存在正相关关系。
巴西基因组是由非随机交配形成的全球单倍型马赛克，在18世纪和19世纪达到顶峰。在这种多样性中，祖先特异性单倍型表现出不均匀的时空分布。小组还在这个多样化的群体中确定了假定选择的基因，这些基因主要与生育能力、免疫反应和代谢特征有关。
据了解，巴西是拉丁美洲最大的国家，尽管拥有世界上最大的混血人口，但在基因组研究方面的代表性不足。
附：英文原文
Title: Admixture’s impact on Brazilian population evolution and health
Author: Kelly Nunes, Marcos Araújo Castro e Silva, Maíra R. Rodrigues, Renan Barbosa Lemes, Patricio Pezo-Valderrama, Lilian Kimura, Lucas Schenatto de Sena, José Eduardo Krieger, Margareth Catoia Varela, Luiz Otávio de Azevedo, Luis Marcelo Aranha Camargo, Ricardo G. M. Ferreira, Henrique Krieger, Maria Cátira Bortolini, José Geraldo Mill, Putira Sacuena, Joo F. Guerreiro, Celia M. B. de Souza, Francisco V. Veronese, Fernanda S. L. Vianna, David Comas, Alexandre C. Pereira, Lygia V. Pereira, Tábita Hünemeier
Issue&Volume: 2025-05-15
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.
DOI: adl3564
Source: https://www.science.org/doi/10.1126/science.adl3564