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

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

Lejla Kovacevic et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have the following interests. Dr. Vedrana Skaro's affiliation to Genos company does not alter the authors' adherence to PLOS ONE policies on sharing data and materials.

Figures

Figure 1
Figure 1. Map of the Western Balkan region with triangles corresponding to the regions from where blood samples were collected.

The sample of Bosnia and Herzegovina consisted of subsamples of three main ethnic groups: Bosniacs (Sarajevo and Zavidovici), Bosnian Croats (Central Bosnia - Zepce and Maglaj; South Bosnia and Herzegovina - Mostar, Grude, Livno, Capljina), Bosnian Serbs (Doboj and Banjaluka region); Croatia (mainland, Zagreb region), Serbia (Belgrade region), Montenegro (Podgorica), Kosovo (Pristina and Prizren) and Macedonia (Skopje).

Figure 2
Figure 2. ADMIXTURE analysis of autosomal SNPs of the Western Balkan region in a global context on the resolution level of 7 assumed ancestral populations (See Table S1 for population data).
Figure 3
Figure 3. Principal component (PC) analysis of the variation of autosomal SNPs in Western Balkan populations in Eurasian context (PC1 versus PC2; see Table S1 for population data).
Figure 4
Figure 4

A: FST-distances based on the variation of autosomal SNPs. A: FST-distances of Western Balkans populations in a global context; B: Region-wise FST-distances of the studied populations. FST-values are from 0,03 (dark blue) to 0,00005 (dark brown).

Figure 5
Figure 5. Network of 29 populations constructed with the Neighbor-net approach from FST distances based on the variation of autosomal SNPs.

Western Balkan populations are indicated with violet color.

Figure 6
Figure 6. TreeMix analysis of Western Balkan and surrounding populations (see Table S1 for population data).

TreeMix graph represents the model of 10 gene-flow events within the sample. A. The population tree with gene-flow (migration) events. The scalebar specifies the weight of a migration, precise value of it is shown on the migration edges; B. Residuals plot; C. Ultrametric tree.

Figure 7
Figure 7. Average number of ibd segments per pair shared between Muslim Western Balkan populations (A – Bosniacs; B - Kosovars) and Middle Eastern (Saudis, Iranians, Syrians, Turks, Palestinians) and other non-Muslim Western Balkan populations (Bosnian Croats and Serbs, Croatians, Macedonians, Serbians, Montenegrins).

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