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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2018.00551

Genetic landscape of Slovenians: past admixture and natural selection pattern

 Pierpaolo Maisano Delser1, 2, Metka Ravnik-Glava3, Paolo Gasperini4,  Damjan Glavač3* and  Massimo Mezzavilla4*
  • 1Trinity College, Dublin, Ireland
  • 2Department of Zoology,Faculty of Biology,University of Cambridge, United Kingdom
  • 3University of Ljubljana, Slovenia
  • 4IRCCS Materno Infantile Burlo Garofolo (IRCCS), Italy

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 analysed 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 event between the Yamnaya and the early Neolithic Hungarians 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 when compared to Southern Europeans responsible for blue eye colour and synthesis of long-chain unsaturated fatty acids respectively. When 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.

Keywords: Slovenia, selection, demographic histories, admixture, human, Single nucleotide polymorphism

Received: 27 Jul 2018; Accepted: 29 Oct 2018.

Edited by:

Fulvio Cruciani, La Sapienza University of Rome, Italy

Reviewed by:

Horolma Pamjav, Bűnügyi Szakértői és Kutatóintézet, Hungary
Antonio González-Martín, Complutense University of Madrid, Spain
Hovirag Lancioni, University of Perugia, Italy  

Copyright: © 2018 Maisano Delser, Ravnik-Glava, Gasperini, Glavač and Mezzavilla. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Prof. Damjan Glavač, University of Ljubljana, Ljubljana, 1000, Slovenia, damjan.glavac@mf.uni-lj.si
Dr. Massimo Mezzavilla, IRCCS Materno Infantile Burlo Garofolo (IRCCS), Trieste, Friuli-Venezia Giulia, Italy, massimo.mezzavilla@burlo.trieste.it