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Ancestry Publications

Explore scientific publications on population genetics, ancient DNA, and ancestry research.

1343 Publications
16909 Authors
226 Journals
23 Years
94 of 1343 publications
Ancestry 2026-03-05

Admixture and Genetic Connectivity: Autosomal Insights Into Indo-Aryan Speakers at the Eastern Edge of the Indian Subcontinent.

Singh Vanya, V Basu Mallick, Chandana C et al.

American journal of human biology : the official journal of the Human Biology CouncilAm J Hum BiolAdmixture and Genetic Connectivity: Autosomal Insights Into Indo-Aryan Speakers at the Eastern Edge of the Indian Subcontinent.e70245e7024510.1002/ajhb.70245Assam serves as a melting pot where various ethnicities converge, shaped by its strategic location bordering the six northeastern states and neighboring countries. This study examines the genomic ancestry of Indo-Aryan speakers in Assam, a region at the eastern edge of the Indian subcontinent known for its diverse linguistic and cultural influences. Principal Components Analysis (PCA) revealed that Assamese Indo-Aryans cluster closely with Bangladeshi Indo-Aryans, diverging from the typical South Asian genetic continuum. This group shows significant ancestral influences from East and Southeast Asia. Outgroup f3 statistics indicated that Assamese Indo-Aryans exhibit greater genetic drift in relation to other Indo-Aryan populations, particularly the Harijan and Kol groups from the Ganga plain, rather than with geographically closer Bengali or Nyishi populations. Haplotype-based fine-structure and identity by descent (IBD) analyses confirmed a close genetic affinity with Bangladeshi Indo-Aryans, along with notable connections to Harijan and Kol populations. The low levels of Runs of Homozygosity (RoH) suggest a high degree of genetic diversity, most likely due to a result of admixture and a large effective population size. Admixture events are estimated to have occurred 55 to 61 generations ago, indicating a composition of 76% Indian ancestry and 24% East/Southeast Asian ancestry. These findings, with enhanced resolution, suggest a reconsideration of the previous assumption that Northeast India served as a genetic barrier. Instead, they appear to support its role as a corridor facilitating bidirectional gene flow between South and East/Southeast Asia. Furthermore, the coexistence of diverse linguistic affiliations of ethnic groups in this region reflects in their ancestry patterns. These findings highlight the complex interplay of geography, language, and genetic exchange in the region.© 2026 Wiley Periodicals LLC.SinghVanyaV0000-0002-2832-7393Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.Basu MallickChandanaC0000-0001-9459-2710Centre for Genetic Disorders, Banaras Hindu University, Varanasi, Uttar Pradesh, India.ChatterjeeMadhumatiM0000-0002-0136-6149Department of Anthropology, Dr APJ Abdul Kalam Government College, Kolkata, India.TamangRakeshR0000-0001-9873-3066Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.DesaiShaileshS0000-0002-1812-5106Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.SinghPrajjval PratapPP0000-0002-8081-5634Laboratory of Genomics and Profiling Applications, BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.MishraRahul KumarRK0000-0003-2608-7856Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.Amity Institute of Biotechnology, Amity University Chhattisgarh, Raipur, India.PandeyRudra KumarRK0000-0002-0995-923XGyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.MishraRitushaR0000-0003-4533-0727Department of Radiotherapy and Radiation Medicines, Banaras Hindu University, Varanasi, Uttar Pradesh, India.SinghAshishA0000-0002-6819-2905Dr. Lalji Singh Research Centre, Kalwari, Jaunpur, Uttar Pradesh, India.SuravajhalaPrashanthP0000-0002-8535-278XDepartment of Biosciences, Manipal University Jaipur, Jaipur, Rajasthan, India.BandyopadhyayArup RatanAR0000-0003-3119-0022Department of Anthropology, University of Calcutta, Kolkata, West Bengal, India.ChaubeyGyaneshwerG0000-0003-2899-3852Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.eng6031BHU IoE incentive grant BHU2021-6389Indian Council of Medical Research2021-11289Indian Council of Medical ResearchDepartment of Zoology, BHUJournal ArticleUnited StatesAm J Hum Biol89150291042-0533IMHumansIndiaHaplotypesGene FlowPrincipal Component AnalysisGenetic VariationEthnicitygeneticsGenetics, PopulationAsian PeoplegeneticsIndo‐AryanNortheast IndiaTibeto‐Burmanadmixtureautosomesgeneflow20263520251062026310202632071120263207102026320213ppublish4185809810.1002/ajhb.70245References

India

Ancestry 2026-01-29

Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations.

Alvin Cengnata, C Pei-Mei, Tham T et al.

Annals of human geneticsAnn Hum GenetDissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations.1121-1210.1111/ahg.70005Southeast Asia (SEA) is a region with enriched human diversity and complex population history. Despite numerous small-scale population genetics studies being carried out, the map of human migration in this landmass remains fragmentary. Notably, the genetic affinities of the Orang Asli from Peninsular Malaysia and other SEA natives have not been comprehensively assessed.In this study, publicly available genotypic datasets were gathered and imputed. The genetic relationships and ancestry make-up of 19 SEA native populations, covering Peninsular Malaysia, Indonesia, Papua New Guinea, the Philippines, Vietnam, and Andaman, were comprehended and benchmarked with 14 global populations.With ∼20 million SNPs coverage, we provided supporting evidence to (i) a possible ancient genetic link between the Andamanese, Papuan and the Philippines and Peninsular Negrito; (ii) gene flow from the ancestors of Andamanese to Papuan, and the Negrito from Peninsular Malaysia and the Philippines; (iii) different genetic structures between the island SEA (iSEA) and mainland (mSEA) populations; (iv) close genetic affinity between the Proto-Malay Seletar with the iSEA populations and (v) close genetic affinity between the Senoi Mah Meri with the Proto-Malays.To our knowledge, this study reported the highest genomic sequence coverage and the most comprehensive SEA native populations covered thus far. Our results not only have provided strong supporting evidence to the earlier hypothesis, but also novel insights into the genetic diversity of the SEA native populations.© 2025 University College London (UCL) and John Wiley & Sons Ltd.AlvinCengnataCFaculty of Applied Sciences, UCSI University, Kuala Lumpur, Malaysia.Pei-MeiThamTDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Hoi-ThungFooFDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Calista Zhe-QingChanCDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.XinLeeLDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Renee Lay-HongLimLFaculty of Applied Sciences, UCSI University, Kuala Lumpur, Malaysia.LianDengDState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ShuhuaXuXState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.Department of Liver Surgery and Transplantation Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, China.Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.School of Life Science and Technology, ShanghaiTech University, Shanghai, China.Boon-PengHohHDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.engFRGS/1/2021/STG01/UCSI/01/1Ministry of Higher Education (MOHE) Malaysia32030020National Natural Science Foundation of China32288101National Natural Science Foundation of China32270665National Natural Science Foundation of ChinaJournal Article20250629EnglandAnn Hum Genet04166610003-4800Orang Asli peopleIMHumansAsia, SoutheasternGene FlowGenetic VariationGenetics, PopulationHuman MigrationMalaysiaPolymorphism, Single NucleotideSoutheast Asian PeopleOrang AsliSoutheast Asiagenetic affinitygenome variationsnatives2025662025111202561120251212720202571462025630233ppublish4058339610.1111/ahg.70005References

Ancestry 2025-12-16

Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry.

Casas-Vargas Andrea, A Guzmán, Alejandra Coronel AC et al.

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

Title
Authors
Journal
Region
Date
Actions
Jepsen Alberte Honoré, AH Poggiali et al.
Forensic science international. Genetics
2026-04-15
Tavares Gustavo Medina, GM Missaggia et al.
Genetics and molecular biology
2026-04-03
Singh Vanya, V Basu Mallick et al.
American journal of human biology : the official journal of the Human Biology CouncilAm J Hum BiolAdmixture and Genetic Connectivity: Autosomal Insights Into Indo-Aryan Speakers at the Eastern Edge of the Indian Subcontinent.e70245e7024510.1002/ajhb.70245Assam serves as a melting pot where various ethnicities converge, shaped by its strategic location bordering the six northeastern states and neighboring countries. This study examines the genomic ancestry of Indo-Aryan speakers in Assam, a region at the eastern edge of the Indian subcontinent known for its diverse linguistic and cultural influences. Principal Components Analysis (PCA) revealed that Assamese Indo-Aryans cluster closely with Bangladeshi Indo-Aryans, diverging from the typical South Asian genetic continuum. This group shows significant ancestral influences from East and Southeast Asia. Outgroup f3 statistics indicated that Assamese Indo-Aryans exhibit greater genetic drift in relation to other Indo-Aryan populations, particularly the Harijan and Kol groups from the Ganga plain, rather than with geographically closer Bengali or Nyishi populations. Haplotype-based fine-structure and identity by descent (IBD) analyses confirmed a close genetic affinity with Bangladeshi Indo-Aryans, along with notable connections to Harijan and Kol populations. The low levels of Runs of Homozygosity (RoH) suggest a high degree of genetic diversity, most likely due to a result of admixture and a large effective population size. Admixture events are estimated to have occurred 55 to 61 generations ago, indicating a composition of 76% Indian ancestry and 24% East/Southeast Asian ancestry. These findings, with enhanced resolution, suggest a reconsideration of the previous assumption that Northeast India served as a genetic barrier. Instead, they appear to support its role as a corridor facilitating bidirectional gene flow between South and East/Southeast Asia. Furthermore, the coexistence of diverse linguistic affiliations of ethnic groups in this region reflects in their ancestry patterns. These findings highlight the complex interplay of geography, language, and genetic exchange in the region.© 2026 Wiley Periodicals LLC.SinghVanyaV0000-0002-2832-7393Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.Basu MallickChandanaC0000-0001-9459-2710Centre for Genetic Disorders, Banaras Hindu University, Varanasi, Uttar Pradesh, India.ChatterjeeMadhumatiM0000-0002-0136-6149Department of Anthropology, Dr APJ Abdul Kalam Government College, Kolkata, India.TamangRakeshR0000-0001-9873-3066Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.DesaiShaileshS0000-0002-1812-5106Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.SinghPrajjval PratapPP0000-0002-8081-5634Laboratory of Genomics and Profiling Applications, BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.MishraRahul KumarRK0000-0003-2608-7856Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.Amity Institute of Biotechnology, Amity University Chhattisgarh, Raipur, India.PandeyRudra KumarRK0000-0002-0995-923XGyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.MishraRitushaR0000-0003-4533-0727Department of Radiotherapy and Radiation Medicines, Banaras Hindu University, Varanasi, Uttar Pradesh, India.SinghAshishA0000-0002-6819-2905Dr. Lalji Singh Research Centre, Kalwari, Jaunpur, Uttar Pradesh, India.SuravajhalaPrashanthP0000-0002-8535-278XDepartment of Biosciences, Manipal University Jaipur, Jaipur, Rajasthan, India.BandyopadhyayArup RatanAR0000-0003-3119-0022Department of Anthropology, University of Calcutta, Kolkata, West Bengal, India.ChaubeyGyaneshwerG0000-0003-2899-3852Gyan Lab, Cytogenetics Unit, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India.eng6031BHU IoE incentive grant BHU2021-6389Indian Council of Medical Research2021-11289Indian Council of Medical ResearchDepartment of Zoology, BHUJournal ArticleUnited StatesAm J Hum Biol89150291042-0533IMHumansIndiaHaplotypesGene FlowPrincipal Component AnalysisGenetic VariationEthnicitygeneticsGenetics, PopulationAsian PeoplegeneticsIndo‐AryanNortheast IndiaTibeto‐Burmanadmixtureautosomesgeneflow20263520251062026310202632071120263207102026320213ppublish4185809810.1002/ajhb.70245References
India
2026-03-05
Kumar Kiran H, KH Rubinacci et al.
American journal of human genetics
2026-03-05
Temple Seth D, SD Chapman et al.
American journal of human genetics
2026-03-05
Alvin Cengnata, C Pei-Mei et al.
Annals of human geneticsAnn Hum GenetDissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations.1121-1210.1111/ahg.70005Southeast Asia (SEA) is a region with enriched human diversity and complex population history. Despite numerous small-scale population genetics studies being carried out, the map of human migration in this landmass remains fragmentary. Notably, the genetic affinities of the Orang Asli from Peninsular Malaysia and other SEA natives have not been comprehensively assessed.In this study, publicly available genotypic datasets were gathered and imputed. The genetic relationships and ancestry make-up of 19 SEA native populations, covering Peninsular Malaysia, Indonesia, Papua New Guinea, the Philippines, Vietnam, and Andaman, were comprehended and benchmarked with 14 global populations.With ∼20 million SNPs coverage, we provided supporting evidence to (i) a possible ancient genetic link between the Andamanese, Papuan and the Philippines and Peninsular Negrito; (ii) gene flow from the ancestors of Andamanese to Papuan, and the Negrito from Peninsular Malaysia and the Philippines; (iii) different genetic structures between the island SEA (iSEA) and mainland (mSEA) populations; (iv) close genetic affinity between the Proto-Malay Seletar with the iSEA populations and (v) close genetic affinity between the Senoi Mah Meri with the Proto-Malays.To our knowledge, this study reported the highest genomic sequence coverage and the most comprehensive SEA native populations covered thus far. Our results not only have provided strong supporting evidence to the earlier hypothesis, but also novel insights into the genetic diversity of the SEA native populations.© 2025 University College London (UCL) and John Wiley & Sons Ltd.AlvinCengnataCFaculty of Applied Sciences, UCSI University, Kuala Lumpur, Malaysia.Pei-MeiThamTDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Hoi-ThungFooFDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Calista Zhe-QingChanCDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.XinLeeLDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.Renee Lay-HongLimLFaculty of Applied Sciences, UCSI University, Kuala Lumpur, Malaysia.LianDengDState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ShuhuaXuXState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.Department of Liver Surgery and Transplantation Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, China.Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.School of Life Science and Technology, ShanghaiTech University, Shanghai, China.Boon-PengHohHDivision of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.engFRGS/1/2021/STG01/UCSI/01/1Ministry of Higher Education (MOHE) Malaysia32030020National Natural Science Foundation of China32288101National Natural Science Foundation of China32270665National Natural Science Foundation of ChinaJournal Article20250629EnglandAnn Hum Genet04166610003-4800Orang Asli peopleIMHumansAsia, SoutheasternGene FlowGenetic VariationGenetics, PopulationHuman MigrationMalaysiaPolymorphism, Single NucleotideSoutheast Asian PeopleOrang AsliSoutheast Asiagenetic affinitygenome variationsnatives2025662025111202561120251212720202571462025630233ppublish4058339610.1111/ahg.70005References
2026-01-29
Pérez-González Alejandra Paulina, AP Aguilar-Ordoñez et al.
Journal of community genetics
2025-12-30
Casas-Vargas Andrea, A Guzmán et al.
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
2025-12-16
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