Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

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

Science · 2025

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Summary

This population genetics study presents whole-genome sequencing data from 2,723 Brazilians across urban, rural, and riverine communities, substantially expanding genomic representation of recently admixed populations. The authors characterised >8 million genetic variants, identifying ancestry-correlated deleterious alleles and ancestry-specific haplotypes shaped by 18th–19th century admixture, whilst identifying putative selection signals in metabolic, immune, and fertility-related genes. These findings address a significant gap in global genomic databases and may inform understanding of population-specific disease risk architecture.

Regional applicability

The findings have limited direct applicability to UK farming, soil, or food systems research. However, the methodological approach to characterising genetic diversity and ancestry-specific health variants may inform UK population health research and precision medicine initiatives, particularly in genetically diverse urban populations.

Key measures

Whole-genome sequences (high-coverage); novel genetic variants; deleterious variants by ancestry; haplotype frequency and distribution; ancestry-specific selection signatures

Outcomes reported

The study identified over 8 million previously unknown genetic variants in 2,723 Brazilian whole-genome sequences, including 36,637 predicted deleterious variants correlated with ancestry. The research characterised the spatiotemporal distribution of ancestry-specific haplotypes and identified putatively selected genes linked to fertility, immune response, and metabolic traits.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Observational cohort
Source type
Peer-reviewed study
Status
Published
Geography
Brazil
System type
Human clinical
DOI
10.1126/science.adl3564
Catalogue ID
SNmois7sjm-51n51c

Topic tags

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