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Abstract

We examined the multifarious genetic heterogeneity of Europe and neighboring regions from a geographical perspective. We created composite maps outlining the estimated geographical distribution of major groups of genetically similar individuals on the basis of forensic Y-chromosomal markers. We analyzed Y-chromosomal haplotypes composed of 7 highly polymorphic STR loci, genotyped for 33,010 samples, collected at 249 sites in Europe, Western Asia and North Africa, deposited in the YHRD database (www.yhrd.org). The data set comprised 4176 different haplotypes, which we grouped into 20 clusters. For each cluster, the frequency per site was calculated. All geostatistical analysis was performed with the geographic information system GRASS-GIS. We interpolated frequency values across the study area separately for each cluster. Juxtaposing all 20 interpolated surfaces, we point-wisely screened for the highest cluster frequencies and stored it in parallel with the respective cluster label. We combined these two types of data in a composite map. We repeated this procedure for the second highest frequencies in Europe. Major groups were assigned to Northern, Western and Eastern Europe. North Africa built a separate region, Southeastern Europe, Turkey and Near East were divided into several regions. The spatial distribution of the groups accounting for the second highest frequencies in Europe overlapped with the territories of the largest countries. The genetic structure presented in the composite maps fits major historical geopolitical regions and is in agreement with previous studies of genetic frequencies, validating our approach. Our genetic geostatistical approach provides, on the basis of two composite maps, detailed evidence of the geographical distribution and relative frequencies of the most predominant groups of the extant male European population, examined on the basis of forensic Y-STR haplotypes. The existence of considerable genetic differences among geographic subgroups in Europe has important consequences for the statistical inference in forensic Y-STR haplotype analyses.