The Analysis of Autosomal STRs Draws the Current Genetic Map and Evolutionary History of Northernmost South America

Objectives: To analyze Colombia’s current human population employing a population genetics approach enriched by genealogical, demographic, cultural, and historical data to learn about its evolutionary history and to elucidate ethnic belonging and relationship patterns between its various population groups. Materials and Methods: This study relies on ten autosomal microsatellite markers (STRs) from 1364 individuals surveyed throughout the country. Aside from employing descriptive population genetics, substructure, and distance analysis, this investigation evaluated genealogical, demographic, cultural, and historical data gathered from fieldwork surveys. Results: We present a genetic diversity and ethnic belonging map of Colombia that suggests a nine-population classification (under afro-descendant, Native American, and Admixed ethnicity labels) that reveals traces of evolutionary processes discussed in the light of recent literature based on modern molecular markers. Colombia's genetic trace from Africa varies among territories, as shown here by two differentiated afro ancestry components: Chocó and San Andrés, in addition to the afro admixture category. Some Native American peoples like the Wayúu, Zenú, Ticuna, Huitoto and Cocama have a genetic configuration that remains relatively preserved. Nevertheless, other self-determined indigenous peoples who remained in their ancestral territories, exhibit genetic introgression that is also reflected by their acculturation levels such as the Pijaos, Kankuamos, and Mokaná. The population classified as European admixture also shows an ancestry component that seems to be more fixed throughout neighboring territories, but whose fluctuation depends on their specific demographic histories. Conclusions: This study combines STRs, a targeted sampling strategy, and advanced analytical tools to explore Colombia’s genetic diversity and evolutionary history. Locally, the findings they enhance understanding of genetics in a post-conflict society, crucial for human identification. Globally, they contribute to human population genetics, helping address evolutionary questions using data from diverse human ancestries and geographies.