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.

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

“…Westward of the Rhine overall R1a1a frequency is low, signaling a genetic boundary with R1b varieties. 39 However, the patterns of currently observed Y-chromosome diversity in East/Central Europe are unlikely to be explained solely by population movements of the last century. 40 Although the median STR haplotype of the derived M458G allele differs from the median type of the ancestral M458A chromosomes at 3 of the 10 STR loci considered in our analyses, the STR data alone are not informative for unambiguous inference of whether an individual has the A or G allele (Supplementary Figures S1 and S2) underscoring the extent of STR saturation and the importance of SNP genotyping to assess phylogenetic ancestry even among closely related lineages.…”

Family-Based Study of AVPR1B Association and Interaction with Stressful Life Events on Depression and Anxiety in Suicide Attempts

“…Notably, genetic boundaries were determined to a greater extent by geographic rather than linguistic boundaries, ie, genetic boundaries between Hungary and its neighbors were not significant relative to continental geographic boundaries (Rosser et al, 2000). In separate studies, Poles and Ukrainians were found to share a common patrilineal heritage together with southwestern Russians (Balanovsky et al, 2008) while Poles and Germans were genetically separated according to the present political boundary (Kayser et al, 2005). Nevertheless, intraEuropean selection signatures on AVPR1B have not been studied and thus any correlation with patrilineal boundaries is speculative.…”

Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics

“…The genetic difference between the Netherlands and Belgium thus increased after 1900 and may be explained by the breakup of the United Kingdom of the Netherlands in these two countries in 1830. As it is observed between Germany and Poland based on Y-chr, 35 administrative borders may affect the current population genetic structure because of the fact that migration occurs mainly within a country. Once there was a notable administrative border between the Netherlands and Belgium, North Brabant received for its textile industry many immigrants from the North where the frequency of R-U106 is relatively high, and the region of Antwerp received more immigrants from the South where this frequency is much lower.…”