Phylogeography of Y-chromosome haplogroup I-P37.2 in Serbian population groups originating from distinct parts of the Balkan Peninsula

Abstract

Genetic structure of the contemporary Serbian population was shaped by a long history of turbulent historical and demographical events. The most important migrations of Serbs towards present day Serbia, in the recent history, occurred between the 15th to the 18th century from the regions of Old Herzegovina and Kosovo and Metohija. Previous haplogroup analysis revealed wide spectrum of main haplogroups, among which haplogroup I-P37.2 was the most frequent one in Serbian population groups originating from the Balkan Peninsula. Within this study 464 Serbian males samples from three geographical regions in the Balkan Peninsula inhabited by Serbs: present-day Serbia, regions of Old Herzegovina and Kosovo and Metohija, previously classified as haplogroup I-P37.2, were genotyped using the 22 Y-single nucleotide polymorphisms (Y-SNPs) in order to determine deeper phylogenetic and phylogeographic analysis of haplogroup I-P37.2. Based on SNP typing all samples in the Old Herzegovina and present-day Serbia dataset and 122 out of 128 samples from Kosovo and Metohija were assigned to haplogroup I-L621. Further SNP typing revealed very similar haplogroup distribution in all datasets, with the predominant haplogroup being I-PH908, followed by haplogroup I-Z17855. Analysis within haplogroup I-PH908 distinguished haplogroup I-FT14506 as the most frequent in the Kosovo and Metohija dataset, while haplogroup I-FT16449 was the most frequent in the Old Herzegovina dataset. In the present-day Serbia dataset, occurrence of haplogroups I-FT14506 and I-FT16449 was almost equal, comprising 40.2 % and 34.4 %, respectively. Low level of differentiation, within haplogroup I-PH908, was detected between all datasets, with the lowest one detected between present-day Serbia and Old Herzegovina datasets and highest one between Kosovo and Metohija and Old Herzegovina datasets. Furthermore, median-joining network analysis and shared haplotypes statistics revealed closer genetic relationship between Old Herzegovina and present-day Serbia haplotypes. Results obtained within this study support the thesis that migrations from historical region of Old Herzegovina and geographical region of Kosovo and Metohija, had great contribution on the present-day Serbian population genetic structure. Furthermore, here presented results, gave insight into geographic distribution of detected haplogroups I-Z17855, I-Y4460, I-PH908, I-Y5596, I-Y4882, I-FT14506, I-FT16449 and I-A5913 and analyzed SNPs, enabling further improvement of the geographic resolution of paternal ancestry inference.