Admixture’s impact on Brazilian population evolution and health
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.
Authors
- Renan Barbosa Lemes (ORCID: https://orcid.org/0000-0002-5177-3105)
- Maíra R. Rodrigues (ORCID: https://orcid.org/0000-0003-3193-9558)
- David Comas (ORCID: https://orcid.org/0000-0002-5075-0956)
- Fernanda Sales Luiz Vianna (ORCID: https://orcid.org/0000-0001-6339-4869)
- Eliene Rodrigues Putira Sacuena (ORCID: https://orcid.org/0000-0001-9836-8054)
- Alexandre C. Pereira (ORCID: https://orcid.org/0000-0002-7782-5540)
- Luís Marcelo Aranha Camargo (ORCID: https://orcid.org/0000-0001-9486-6195)
- Lygia V. Pereira (ORCID: https://orcid.org/0000-0002-0002-725X)
- Célia Mariana Barbosa de Souza (ORCID: https://orcid.org/0000-0001-6870-1637)
- María Cátira Bortolini (ORCID: https://orcid.org/0000-0003-0598-3854)
- João Farias Guerreiro (ORCID: https://orcid.org/0000-0003-1979-3656)
- Tábita Hünemeier (ORCID: https://orcid.org/0000-0002-3156-2079)
- Patricio Pezo (ORCID: https://orcid.org/0000-0001-5027-7145)
- José Geraldo Mill (ORCID: https://orcid.org/0000-0002-0987-368X)
- Ricardo de Godoi Mattos Ferreira (ORCID: https://orcid.org/0000-0003-2363-1289)
- Marcos Araújo Castro e Silva (ORCID: https://orcid.org/0000-0002-9873-3717)
- Margareth Catoia Varela (ORCID: https://orcid.org/0000-0002-8161-1158)
- Kelly Nunes (ORCID: https://orcid.org/0000-0003-0864-2414)
- Luiz Otávio Azevedo (ORCID: https://orcid.org/0000-0002-4876-5948)
- Lucas Schenatto Sena (ORCID: https://orcid.org/0000-0003-4398-5797)
- Lilian Kimura (ORCID: https://orcid.org/0000-0003-1018-4109)
- José Eduardo Krieger (ORCID: https://orcid.org/0000-0001-5464-1792)
- Francisco Veríssimo Veronese (ORCID: https://orcid.org/0000-0003-3278-6661)
- Henrique Krieger
Institutions
- Universidade Federal de Rondônia (BR)
- Universidade Federal do Rio Grande do Sul (BR)
- Harvard University (US)
- Universitat Pompeu Fabra (ES)
- Universidade de São Paulo (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Institut de Biologia Evolutiva (ES)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Universidade Federal do Espírito Santo (BR)
- Fundação Oswaldo Cruz (BR)
- Universidade Federal do Pará (BR)
Publication Details
- Journal
- Science
- Published
- 2025-05-15
- DOI
- https://doi.org/10.1126/science.adl3564
- Citations
- 62
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 112.67