Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern
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 histo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-11-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2018.00551/full |
| _version_ | 1811211114993680384 |
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| author | Pierpaolo Maisano Delser Pierpaolo Maisano Delser Metka Ravnik-Glavač Metka Ravnik-Glavač Paolo Gasparini Paolo Gasparini Damjan Glavač Massimo Mezzavilla |
| author_facet | Pierpaolo Maisano Delser Pierpaolo Maisano Delser Metka Ravnik-Glavač Metka Ravnik-Glavač Paolo Gasparini Paolo Gasparini Damjan Glavač Massimo Mezzavilla |
| author_sort | Pierpaolo Maisano Delser |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T05:07:12Z |
| format | Article |
| id | doaj.art-a726bc7d0f4c4c8a807bd0f94ab14c6a |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T05:07:12Z |
| publishDate | 2018-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-a726bc7d0f4c4c8a807bd0f94ab14c6a2022-12-22T03:46:50ZengFrontiers Media S.A.Frontiers in Genetics1664-80212018-11-01910.3389/fgene.2018.00551416192Genetic Landscape of Slovenians: Past Admixture and Natural Selection PatternPierpaolo Maisano Delser0Pierpaolo Maisano Delser1Metka Ravnik-Glavač2Metka Ravnik-Glavač3Paolo Gasparini4Paolo Gasparini5Damjan Glavač6Massimo Mezzavilla7Smurfit Institute of Genetics, Trinity College Dublin, Dublin, IrelandDepartment of Zoology, University of Cambridge, Cambridge, United KingdomDepartment of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaInstitute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaInstitute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, ItalyDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste, ItalyDepartment of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaInstitute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, ItalyThe 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.https://www.frontiersin.org/article/10.3389/fgene.2018.00551/fullSloveniahumansingle nucleotide polymorphismdemographic historiesselectionadmixture |
| spellingShingle | Pierpaolo Maisano Delser Pierpaolo Maisano Delser Metka Ravnik-Glavač Metka Ravnik-Glavač Paolo Gasparini Paolo Gasparini Damjan Glavač Massimo Mezzavilla Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern Frontiers in Genetics Slovenia human single nucleotide polymorphism demographic histories selection admixture |
| title | Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern |
| title_full | Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern |
| title_fullStr | Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern |
| title_full_unstemmed | Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern |
| title_short | Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern |
| title_sort | genetic landscape of slovenians past admixture and natural selection pattern |
| topic | Slovenia human single nucleotide polymorphism demographic histories selection admixture |
| url | https://www.frontiersin.org/article/10.3389/fgene.2018.00551/full |
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