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American journal of human biology : the official journal of the Human Biology CouncilAm J Hum BiolGenetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.e70171e7017110.1002/ajhb.70171To determine the genetic diversity and ancestry of male lineages across various regions of Colombia by analyzing Y-chromosome Short Tandem Repeats (STRs) and to explore how these genetic variations relate to the historical and migratory events that shaped the country's subpopulations.A total of 672 DNA samples from diverse Colombian populations were analyzed, and Y-chromosome STRs were genotyped using the Yfiler and Yfiler Plus amplification kits. Haplogroup assignments were performed using open-source software, and multivariate analyses were employed to facilitate intra- and interpopulation comparisons.Substantial genetic diversity was observed among the haplotypes of the studied populations. Haplogroup R1b, of European origin, was predominant in the Andean region, while haplogroup E1b, associated with African ancestry, was more frequent in the Pacific and San Andrés regions. In relatively conserved populations, such as those from the Amazon and La Guajira, a high frequency of haplogroup Q, characteristic of Native American lineages, was detected. Multidimensional scaling (MDS) analyses showed clear genetic separations among regions, reflecting historical and geographical influences. Populations from the Pacific and Caribbean coasts clustered closely with African lineages, while those from the interior of the country exhibited a stronger European influence. In contrast, Indigenous communities and other more conserved populations, such as those in the Amazon, were clearly differentiated, underscoring the preservation of native lineages.The results highlight the genetic complexity of Colombian populations, which have been shaped by the admixture of Native American, African, European, and, to a lesser extent, Middle Eastern lineages. These findings highlight the impact of historical processes, including European colonization, the transatlantic slave trade, and more recent migration events, on the country's genetic structure.© 2025 Wiley Periodicals LLC.Casas-VargasAndreaAGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.GuzmánAlejandra CoronelACGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.AvilaAngie JAJGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.Albarracin-BarreraJulyJGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.Aponte-RubioYuryYGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.SuárezDayanaDGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.Moncada MaderoJulieJGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.MogollónFernandaFGrupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.BravoNora ContrerasNCSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá DC, Colombia.MorelAdrienASchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá DC, Colombia.CabreraRodrigoRSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá DC, Colombia.Fonseca-MendozaDora JanethDJSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá DC, Colombia.BernalIngrid TatyanaITUniversidad Nacional de Colombia, Bogotá, Colombia.RestrepoCarlos MCMSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá DC, Colombia.Sánchez-GómezYasmínYUniversidad de Boyacá, Medisens S.A.S, Tunja, Boyacá, Colombia.Usaquén-MartínezWilliamW0000-0001-5409-7125Grupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.engMinisterio de Ciencia, Tecnología e InnovaciónDirección de Investigación, Universidad Nacional de ColombiaMinciencias632-2021Minciencias, Project in Health promoting personalized Medicine and Translational ResearchQAN BG273Universidad del RosarioJournal ArticleUnited StatesAm J Hum Biol89150291042-0533IMHumansColombiaChromosomes, Human, YgeneticsMaleGenetic VariationHaplotypesMicrosatellite RepeatsColombiaSouth AmericaY‐STRsY‐chromosomegenetic diversitypopulation genetics2025916202521820251112202512273820251227372025122343ppublish4132802010.1002/ajhb.70171References

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