Abstract
The Slovenian territory played a crucial role in the past serving as gateway for several human migrations. Previous studies used Slovenians as a source population to interpret different demographic events happened in Europe but not much is known about the genetic background and the demographic history of this population. Here, we analyzed genome-wide data from 96 individuals to shed light on the genetic role and history of the Slovenian population. Y chromosome diversity splits into two major haplogroups R1b and R1a with the latter suggesting a genetic contribution from the steppe. Slovenian individuals are more closely related to Northern and Eastern European populations than Southern European populations even though they are geographically closer. This pattern is confirmed by an admixture and clustering analysis. We also identified a single stream of admixture events between the Slovenians with Sardinians and Russians around ∼2630 BCE (2149-3112). Using ancient samples, we found a significant admixture in Slovenians using Yamnaya and the early Neolithic Hungarians as sources, dated around ∼1762 BCE (1099-2426) suggesting a strong contribution from the steppe to the foundation of the observed modern genetic diversity. Finally, we looked for signals of selection in candidate variants and we found significant hits in HERC2 and FADS responsible for blue eye color and synthesis of long-chain unsaturated fatty acids, respectively, when Slovenians were compared to Southern Europeans. While the comparison was done with Eastern Europeans, we identified significant signals in PKD2L1 and IL6R which are genes associated with taste and coronary artery disease, respectively.
Highlights
The Slovenian territory is geographically located between the Alps, the Adriatic Sea and the Pannonian basin and as such it could have been used as a gateway for different populations over several periods of time
We performed principal component analysis on autosomal data to further investigate the presence of structure within the Slovenian population
We modeled the Slovenian population as target of admixture of ancient individuals from Haak et al (2015) while computing the f3(Ancient 1, Ancient 2, Slovenian) statistic
Summary
The Slovenian territory is geographically located between the Alps, the Adriatic Sea and the Pannonian basin and as such it could have been used as a gateway for different populations over several periods of time. The origin of the presentday Slovenian population and their language is still debate between different theories regarding the Slavic migration and settlement (Grafenauer, 1950; Žužek, 2007). There are several hypotheses about a South Slavic influence or a West Slavic origin followed by a South Slavic contribution (Grafenauer, 1950; Bezljaj, 1967; Žužek, 2007). This background gives us only little clues regarding the genetic features of the founder pool
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