Whole Exome Sequencing of Amazonian Riverside Populations: Genetic Variability and the Role of Selenium in Gene-Environment Interaction under Chronic Exposure to Toxic Metals

• Grant number: 25/01798-3
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: July 01, 2025
• End date: June 30, 2028
• Field of knowledge: Health Sciences - Pharmacy - Toxicological Analysis
• Principal Investigator: Fernando Barbosa Júnior
• Grantee: Nathália de Assis Aguilar Duarte
• Host Institution: Faculdade de Ciências Farmacêuticas de Ribeirão Preto (FCFRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

The riverside populations of the Amazon face chronic exposure to toxic metals, such as mercury (Hg) and lead (Pb), primarily due to the consumption of fish and manioc flour. This exposure poses a serious health risk and is associated with adverse neurological, renal, and cardiovascular effects. Evidence suggests that selenium (Se) may act as a protective factor against the toxicity of these metals. This project aims to evaluate the relationship between Hg and Pb exposure and genetic factors related to Se metabolism, investigating its potential protective role. To achieve this, biological samples of blood, plasma, urine, and hair will be analyzed for the quantification of metals and Se using ICP-MS, in addition to Whole exome sequencing (WES) of riverside individuals through next-generation sequencing (NGS) technology, with the goal of identifying genetic variants associated with susceptibility or resistance to toxic effects. The integrated approach, considering environmental, behavioral, and genetic factors, will provide a broader understanding of the health impacts on this population, contributing to the development of effective public policies. The results obtained can be also incorporated into the Genomas Brasil program, enhancing the representation of traditional Amazonian populations and enabling more accurate comparisons in future studies, reducing reliance on predominantly European genomic databases. (AU)