Standing at the gateway to Europe--the genetic structure of Western balkan populations based on autosomal and haploid markers.

Lejla Kovacevic,Alena Kushniarevich,Zlatko Jakovski,Tamer Bego,Vedrana Skaro,Pavao Rudan,Sandra Kovacevic,Dragan Primorac,Helle-Viivi Tolk,Kristiina Tambets,Ene Metspalu,Damir Marjanovic,Andreja Leskovac,Bayazit Yunusbayev,Anne-Mai Ilumäe,Katja Drobnic,Anu Solnik,Peristera Paschou

doi:10.1371/journal.pone.0105090

Abstract

Contemporary inhabitants of the Balkan Peninsula belong to several ethnic groups of diverse cultural background. In this study, three ethnic groups from Bosnia and Herzegovina - Bosniacs, Bosnian Croats and Bosnian Serbs - as well as the populations of Serbians, Croatians, Macedonians from the former Yugoslav Republic of Macedonia, Montenegrins and Kosovars have been characterized for the genetic variation of 660 000 genome-wide autosomal single nucleotide polymorphisms and for haploid markers. New autosomal data of the 70 individuals together with previously published data of 20 individuals from the populations of the Western Balkan region in a context of 695 samples of global range have been analysed. Comparison of the variation data of autosomal and haploid lineages of the studied Western Balkan populations reveals a concordance of the data in both sets and the genetic uniformity of the studied populations, especially of Western South-Slavic speakers. The genetic variation of Western Balkan populations reveals the continuity between the Middle East and Europe via the Balkan region and supports the scenario that one of the major routes of ancient gene flows and admixture went through the Balkan Peninsula.

Highlights

The Balkan Peninsula has been continuously settled by anatomically modern humans (AMH) since the Upper Paleolithic era [1,2,3,4]
To distinguish between the Serbian and Croatian individuals of the ethnic groups of Bosnia and Herzegovina from those originating from Serbia and Croatia, we have referred to individuals sampled from Bosnia and Herzegovina as Serbs and Croats and those sampled from Serbia and Croatia as Serbians and Croatians
The variation analysis of 660K autosomal SNPs of 70 individuals from Western Balkan populations revealed that the genetic uniformity that has been shown by studies of uniparentally inherited markers of these populations can be seen at the whole-genome level

Summary

Introduction

The Balkan Peninsula has been continuously settled by anatomically modern humans (AMH) since the Upper Paleolithic era [1,2,3,4]. The rich archaeological heritage of the region from the period of transition between Middle and Upper Paleolithics in Europe and the traces of different technologies from traditionally Neanderthal associated Mousterian to Ceramic industries of Neolithics [5,6,7,8,9,10] shows the importance of the area for understanding the spread of AMH across the continent [6,11]. From the 15th until 19th century the Peninsula was under the Ottoman control [19,22,24]

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Conclusion