Conclusions

This study provides a comprehensive overview of paternal lineages and their regional patterns of variation within Colombia. The analysis of Colombian haplotypes in this study reinforces the extensive regional genetic diversity within the country. Genetic distance results among regions revealed marked differences in paternal lineages across the five main geographical regions of Colombia, preventing the use of a unified national database of Y-haplotype frequencies for an accurate evaluation of forensic evidence at regional level. This diversity pattern, also reported in studies using other genetic markers, reflects the country’s colonization history, which begins with the exclusive presence of Native American groups, followed by European colonization in 15th century, and subsequently the forced introduction of enslaved Africans.

As a consequence, genetic distance analyses based on Y-STR data from different Colombian regions, compared with reference populations of European, African, and admixed South American groups, unsurprisingly indicate closer affinities with Iberian populations, particularly for Andean, Orinoquía, and Caribbean regions. This pattern is further supported by the predominance of the European haplogroup R1b-P312 among male lineages in the Andes and Caribbean, a lineage commonly found at high frequencies in the Iberian Peninsula, reinforcing historical records of the predominant contribution of Iberian settlers. In contrast, the Amazonian region shows closer affinities with Native American populations, whereas the Pacific region displays stronger genetic proximity to African groups.

The studied populations exhibited high HD, consistent with what has been observed for South American populations shaped by admixture from at least three different continental sources. The PowerPlex Y23 markers demonstrated a high capacity for intrapopulation discrimination among Colombian regional groups, supporting their use in forensic applications.