Original Investigation

Human Genetics

, Volume 117, Issue 5, pp 428-443

First online:

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis

  • Manfred KayserAffiliated withDepartment of Forensic Molecular Biology, Medical-Genetic Cluster,, Erasmus University Medical Center Rotterdam Email author 
  • , Oscar LaoAffiliated withDepartment of Forensic Molecular Biology, Medical-Genetic Cluster,, Erasmus University Medical Center Rotterdam
  • , Katja AnslingerAffiliated withInstitute of Legal Medicine, University of Munich
  • , Christa AugustinAffiliated withInstitute of Legal Medicine, University of Hamburg
  • , Grazyna BargelAffiliated withHuman Molecular Genetics Lab, Departments of Forensic Medicine and Pediatrics, Medical University Warsaw
  • , Jeanett EdelmannAffiliated withInstitute of Legal Medicine, University of Leipzig
  • , Sahar EliasAffiliated withInstitute of Legal Medicine, University of Hamburg
  • , Marielle HeinrichAffiliated withInstitute of Legal Medicine, University of Muenster
  • , Jürgen HenkeAffiliated withInstitut fuer Blutgruppenforschung
    • , Lotte HenkeAffiliated withInstitut fuer Blutgruppenforschung
    • , Carsten HohoffAffiliated withInstitute of Legal Medicine, University of Muenster
    • , Anett IllingAffiliated withDepartment for Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology
    • , Anna JonkiszAffiliated withInstitute of Forensic Medicine, Medical University Wroclaw
    • , Piotr KuzniarAffiliated withHuman Molecular Genetics Lab, Departments of Forensic Medicine and Pediatrics, Medical University Warsaw
    • , Arleta LebiodaAffiliated withInstitute of Forensic Medicine, Medical University Wroclaw
    • , Rüdiger LessigAffiliated withInstitute of Legal Medicine, University of Leipzig
    • , Slawomir LewickiAffiliated withHuman Molecular Genetics Lab, Departments of Forensic Medicine and Pediatrics, Medical University Warsaw
    • , Agnieszka MaciejewskaAffiliated withInstitute of Forensic Medicine, Medical University Gdañsk
    • , Dorota Marta MoniesAffiliated withInstitute of Forensic Medicine, Medical University Lublin
    • , Ryszard PawłowskiAffiliated withInstitute of Forensic Medicine, Medical University Gdañsk
    • , Micaela PoetschAffiliated withInstitute of Legal Medicine, University of Greifswald
    • , Dagmar SchmidAffiliated withInstitute of Legal Medicine, University of Munich
    • , Ulrike SchmidtAffiliated withInstitute of Legal Medicine, University of Freiburg
    • , Peter M. SchneiderAffiliated withInstitute of Legal Medicine, University of Mainz
    • , Beate Stradmann-BellinghausenAffiliated withInstitute of Legal Medicine, University of Mainz
    • , Reinhard SziborAffiliated withInstitute of Legal Medicine, University of Magdeburg
    • , Rudolf WegenerAffiliated withInstitute of Legal Medicine, University of Rostock
    • , Marcin WozniakAffiliated withInstitute of Molecular and Forensic Genetics, Collegium Medicum, Nicolaus Copernicus University
    • , Magdalena ZoledziewskaAffiliated withInstitute of Forensic Medicine, Medical University Wroclaw
    • , Lutz RoewerAffiliated withInstitute of Legal Medicine, Charite—University Medicine
    • , Tadeusz DoboszAffiliated withInstitute of Forensic Medicine, Medical University Wroclaw
    • , Rafal PloskiAffiliated withHuman Molecular Genetics Lab, Departments of Forensic Medicine and Pediatrics, Medical University Warsaw

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Abstract

To test for human population substructure and to investigate human population history we have analysed Y-chromosome diversity using seven microsatellites (Y-STRs) and ten binary markers (Y-SNPs) in samples from eight regionally distributed populations from Poland (n=913) and 11 from Germany (n=1,215). Based on data from both Y-chromosome marker systems, which we found to be highly correlated (r=0.96), and using spatial analysis of the molecular variance (SAMOVA), we revealed statistically significant support for two groups of populations: (1) all Polish populations and (2) all German populations. By means of analysis of the molecular variance (AMOVA) we observed a large and statistically significant proportion of 14% (for Y-SNPs) and 15% (for Y-STRs) of the respective total genetic variation being explained between both countries. The same population differentiation was detected using Monmonier’s algorithm, with a resulting genetic border between Poland and Germany that closely resembles the course of the political border between both countries. The observed genetic differentiation was mainly, but not exclusively, due to the frequency distribution of two Y-SNP haplogroups and their associated Y-STR haplotypes: R1a1*, most frequent in Poland, and R1*(xR1a1), most frequent in Germany. We suggest here that the pronounced population differentiation between the two geographically neighbouring countries, Poland and Germany, is the consequence of very recent events in human population history, namely the forced human resettlement of many millions of Germans and Poles during and, especially, shortly after World War II. In addition, our findings have consequences for the forensic application of Y-chromosome markers, strongly supporting the implementation of population substructure into forensic Y chromosome databases, and also for genetic association studies.