The maternal perspective for five Slovenian regions: The importance of regional sampling

Abstract

Background: The Slovenian territory is geographically positioned between the Alps, Adriatic Sea, Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway for various populations in different periods of time. Turbulent historic events and diverse geography of the region have produced a diverse contemporary population whose genetic analysis could provide insight into past demographic events.

Aim: The aims of this study were to characterize the Slovenian mitochondrial gene pool at the micro-geographic level and to compare it with surrounding populations.

Subjects and methods: A total of 402 individuals from five Slovenian regions were analysed in this study by typing HVR I, HVR II and coding region polymorphisms of mtDNA.

Results: Analysis revealed 47 haplogroups and sub-haplogroups, the most common of which were H*, H1, J1c, T2 and U5a. Intra-population comparisons revealed a sharp gradient of the J1c haplogroup between Slovenian regions, with a peak frequency of 24.5% being observed in the population of the Littoral Region.

Conclusion: The sharp gradient of the J1c haplogroup between Slovenian regions is in line with the archaeological horizon known as Impressed Ware culture and could, therefore, represent a genetic trace of the early Neolithic expansion route along the East Adriatic coastal region.

• Impressed ware culture
• J1c haplogroup
• mtDNA diversity
• neolithic
• Slavs
• Slovenian population

Acknowledgements

The authors thank all donors for making this work possible; we also thank Dr Primož Rožman, MD and Dr Tadeja Dovč Drnovšek for their contributions to sample collection. The Slovenian Research Agency (program P3-054) supported this work, which is part of the PhD thesis of Andrej Zupan, BSc, in Biochemistry.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Supplementary material available online

Supplementary Tables S1-S3 and Figures S1-S2.