UGT1A1 polymorphisms and metabolic phenotypes in indigenous peoples from the Brazilian Amazon
This is the first report on the frequency distribution of clinically relevant UGT1A1 variants and inferred UGT1A1 metabolic phenotypes in two major Native populations from indigenous reservation areas in the Brazilian Amazon, namely the Paiter-Suruí and Yanomami. The TA(5) and TA(8) repeats were absent, whereas TA(7) was common (frequency >0.50) in both cohorts. The intronic rs887829 variant ( UGT1A1 * 80 ) single nucleotide variant was found in perfect LD with the promoter TA repeats. The rs4148323 SNP was absent (Paiter-Suruí) or rare (Yanomami). The frequency of high-risk UGT1A1 poor metabolizer phenotype was 1.6- to 2-fold higher in the indigenous cohorts compared to nonindigenous Brazilians.
Authors
- Paulo Cesar Basta (ORCID: https://orcid.org/0000-0003-0804-0413)
- Leonor Gusmão (ORCID: https://orcid.org/0000-0003-0432-6481)
- Marcelo Alex Carvalho (ORCID: https://orcid.org/0000-0002-7053-0053)
- Anna Beatriz Ribeiro Elias (ORCID: https://orcid.org/0000-0003-0193-7738)
- Guilherme Suarez‐Kurtz (ORCID: https://orcid.org/0000-0002-1115-8319)
- Jamila Alessandra Perini (ORCID: https://orcid.org/0000-0002-7683-0698)
- Alessandra Silva Dias
- Larissa B. Skaf
Institutions
- Instituto Federal do Rio de Janeiro (BR)
- Universidade do Estado do Rio de Janeiro (BR)
- Escola Nacional de Saúde Pública (BR)
- Instituto Nacional de Câncer - INCA (BR)
- Fundação Oswaldo Cruz (BR)
Publication Details
- Journal
- Pharmacogenetics and Genomics
- Published
- 2025-04-11
- DOI
- https://doi.org/10.1097/fpc.0000000000000566
- Citations
- 2
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 6.99