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

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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.

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Acknowledgements

We are grateful to Anett Bagans, Silke Brauer, Anita Dettlaff-Kakol, Dennis Kappei, Carmen Krüger, Anja Manek, Nicola Meier, Regina Paszkowska, Monika Reichert, Kerstin Richter, Anke Riedel, and Katja Tremel for expert technical assistance. Richard Cordaux and Vano Nasidze are acknowledged for sharing PCR protocols prior to their original publication. M. Kayser is grateful to Mark Stoneking for providing laboratory facilities at MPI-EVA as well as for his general support, and thanks Gunter Weiss for statistical advice. M. Wozniak acknowledges the support by the Ludwik Rydygier University School of Medical Sciences in Bydgoszcz (grant BW 87/2003). R. Ploski, G. Bargel, and P. Kuzniar all acknowledge the support by the Polish State Committee for Scientific Research (grant 0T00C00322), and by the Medical University of Warsaw (grant 1MB/N/2004). M. Kayser and O. Lao acknowledge the support by the Erasmus University Medical Center Rotterdam and the Netherlands Forensic Institute.

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Authors and Affiliations

  1. Department of Forensic Molecular Biology, Medical-Genetic Cluster,, Erasmus University Medical Center Rotterdam, PO Box 1738, 3000, DR Rotterdam, The Netherlands

    Manfred Kayser & Oscar Lao

  2. Institute of Legal Medicine, University of Munich, Munich, Germany

    Katja Anslinger & Dagmar Schmid

  3. Institute of Legal Medicine, University of Hamburg, Hamburg, Germany

    Christa Augustin & Sahar Elias

  4. Institute of Legal Medicine, University of Leipzig, Leipzig, Germany

    Jeanett Edelmann & Rüdiger Lessig

  5. Institute of Legal Medicine, University of Muenster, Muenster, Germany

    Marielle Heinrich & Carsten Hohoff

  6. Institut fuer Blutgruppenforschung, Cologne, Germany

    Jürgen Henke & Lotte Henke

  7. Department for Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany

    Anett Illing

  8. Institute of Forensic Medicine, Medical University Lublin, Lublin, Poland

    Dorota Marta Monies

  9. Institute of Forensic Medicine, Medical University Gdañsk, Gdañsk, Poland

    Agnieszka Maciejewska & Ryszard Pawłowski

  10. Institute of Legal Medicine, University of Greifswald, Greifswald, Germany

    Micaela Poetsch

  11. Institute of Legal Medicine, University of Freiburg, Freiburg, Germany

    Ulrike Schmidt

  12. Institute of Legal Medicine, University of Mainz, Mainz, Germany

    Peter M. Schneider & Beate Stradmann-Bellinghausen

  13. Institute of Legal Medicine, University of Magdeburg, Magdeburg, Germany

    Reinhard Szibor

  14. Institute of Legal Medicine, University of Rostock, Rostock, Germany

    Rudolf Wegener

  15. Institute of Molecular and Forensic Genetics, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland

    Marcin Wozniak

  16. Institute of Legal Medicine, Charite—University Medicine, Berlin, Germany

    Lutz Roewer

  17. Institute of Forensic Medicine, Medical University Wroclaw, Wroclaw, Poland

    Anna Jonkisz, Arleta Lebioda, Magdalena Zoledziewska & Tadeusz Dobosz

  18. Human Molecular Genetics Lab, Departments of Forensic Medicine and Pediatrics, Medical University Warsaw, Warsaw, Poland

    Grazyna Bargel, Piotr Kuzniar, Slawomir Lewicki & Rafal Ploski

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  1. Manfred Kayser
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  28. Marcin Wozniak
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  29. Magdalena Zoledziewska
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  30. Lutz Roewer
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  31. Tadeusz Dobosz
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  32. Rafal Ploski
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Corresponding author

Correspondence to Manfred Kayser.

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Kayser, M., Lao, O., Anslinger, K. et al. Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Hum Genet 117, 428–443 (2005). https://doi.org/10.1007/s00439-005-1333-9

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