Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.
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.
Kayser
Manfred
M
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
Lao
Oscar
O
Anslinger
Katja
K
Augustin
Christa
C
Bargel
Grazyna
G
Edelmann
Jeanett
J
Elias
Sahar
S
Heinrich
Marielle
M
Henke
Jürgen
J
Henke
Lotte
L
Hohoff
Carsten
C
Illing
Anett
A
Jonkisz
Anna
A
Kuzniar
Piotr
P
Lebioda
Arleta
A
Lessig
Rüdiger
R
Lewicki
Slawomir
S
Maciejewska
Agnieszka
A
Monies
Dorota Marta
DM
Pawłowski
Ryszard
R
Poetsch
Micaela
M
Schmid
Dagmar
D
Schmidt
Ulrike
U
Schneider
Peter M
PM
Stradmann-Bellinghausen
Beate
B
Szibor
Reinhard
R
Wegener
Rudolf
R
Wozniak
Marcin
M
Zoledziewska
Magdalena
M
Roewer
Lutz
L
Dobosz
Tadeusz
T
Ploski
Rafal
R
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