title: Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.
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.
authors.affiliation: Department of Forensic Molecular Biology, Medical-Genetic Cluster, Erasmus University Medical Center Rotterdam, PO Box 1738, 3000, DR Rotterdam, The Netherlands. m.kayser@erasmusmc.nl
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.forename: Oscar
authors.initials: O
authors.lastname: Lao
authors.forename: Katja
authors.initials: K
authors.lastname: Anslinger
authors.forename: Christa
authors.initials: C
authors.lastname: Augustin
authors.forename: Grazyna
authors.initials: G
authors.lastname: Bargel
authors.forename: Jeanett
authors.initials: J
authors.lastname: Edelmann
authors.forename: Sahar
authors.initials: S
authors.lastname: Elias
authors.forename: Marielle
authors.initials: M
authors.lastname: Heinrich
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.forename: Carsten
authors.initials: C
authors.lastname: Hohoff
authors.forename: Anett
authors.initials: A
authors.lastname: Illing
authors.forename: Anna
authors.initials: A
authors.lastname: Jonkisz
authors.forename: Piotr
authors.initials: P
authors.lastname: Kuzniar
authors.forename: Arleta
authors.initials: A
authors.lastname: Lebioda
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Lessig
authors.forename: Slawomir
authors.initials: S
authors.lastname: Lewicki
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska
authors.forename: Dorota Marta
authors.initials: DM
authors.lastname: Monies
authors.forename: Ryszard
authors.initials: R
authors.lastname: Pawłowski
authors.forename: Micaela
authors.initials: M
authors.lastname: Poetsch
authors.forename: Dagmar
authors.initials: D
authors.lastname: Schmid
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schmidt
authors.forename: Peter M
authors.initials: PM
authors.lastname: Schneider
authors.forename: Beate
authors.initials: B
authors.lastname: Stradmann-Bellinghausen
authors.forename: Reinhard
authors.initials: R
authors.lastname: Szibor
authors.forename: Rudolf
authors.initials: R
authors.lastname: Wegener
authors.forename: Marcin
authors.initials: M
authors.lastname: Wozniak
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zoledziewska
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dobosz
authors.forename: Rafal
authors.initials: R
authors.lastname: Ploski
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D003710:Demography; D004641:Emigration and Immigration; D014644:Genetic Variation; D005843:Geography; D005858:Germany; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D047789:World War II