Genomic Study Reveals New Variants in Brazil's Diverse Population Linked to Health Risks

A groundbreaking international research effort has produced the most comprehensive genetic map of Brazil to date, uncovering over 8 million previously unidentified genetic variants. This extensive study, which analyzed 2,723 high-coverage whole-genome sequences from diverse regions across Brazil, highlights the country's significant genomic diversity resulting from centuries of natural selection, nonrandom mating, and ongoing admixture since the 1500s. The research underscores the influence of ancestral backgrounds—including Indigenous, European, and African roots—on health-related genetic traits in the population.

The study found a notable number of potentially harmful variants, including those associated with heart disease, obesity, and infectious illnesses such as malaria, hepatitis, and tuberculosis. These variants are disproportionately linked to Native American and African ancestries, emphasizing the need to consider ethnic diversity in genetic research. The findings also reveal how historical demographic events, like colonization and forced migrations, have shaped the genetic landscape of present-day Brazil, with higher African ancestry noted in northern regions and more European heritage in the south.

By examining the population's genetic makeup, scientists observed recent natural selection processes influencing fertility, immune response, and metabolism. The surprisingly high prevalence of certain inherited diseases, such as Machado-Joseph disease with European origins, reflects founder effects and complex migration patterns. Furthermore, the data demonstrate that most Y-chromosome lineages are European, while mitochondrial lineages are predominantly African or Native American, indicating historical gender-based mating patterns.

This pioneering genomic database illuminates the intricate history and health implications of Brazil's population, fostering a deeper understanding of human evolution. It also offers vital insights into population-specific disease risks and genetic traits, aiding in future personalized medicine initiatives. Ultimately, mapping Brazil’s genetic diversity not only benefits public health but also enhances our understanding of human history across the globe.

Source: https://medicalxpress.com/news/2025-05-genome-brazil-diverse-population-uncovers.html