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. 2013;8(3):e58552.
doi: 10.1371/journal.pone.0058552. Epub 2013 Mar 7.

A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe

Andrey V Khrunin  1 , Denis V Khokhrin, Irina N Filippova, Tõnu Esko, Mari Nelis, Natalia A Bebyakova, Natalia L Bolotova, Janis Klovins, Liene Nikitina-Zake, Karola Rehnström, Samuli Ripatti, Stefan Schreiber, Andre Franke, Milan Macek, Veronika Krulišová, Jan Lubinski, Andres Metspalu, Svetlana A Limborska
Affiliations

A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe

Andrey V Khrunin et al. PLoS One. 2013.

Abstract

Several studies examined the fine-scale structure of human genetic variation in Europe. However, the European sets analyzed represent mainly northern, western, central, and southern Europe. Here, we report an analysis of approximately 166,000 single nucleotide polymorphisms in populations from eastern (northeastern) Europe: four Russian populations from European Russia, and three populations from the northernmost Finno-Ugric ethnicities (Veps and two contrast groups of Komi people). These were compared with several reference European samples, including Finns, Estonians, Latvians, Poles, Czechs, Germans, and Italians. The results obtained demonstrated genetic heterogeneity of populations living in the region studied. Russians from the central part of European Russia (Tver, Murom, and Kursk) exhibited similarities with populations from central-eastern Europe, and were distant from Russian sample from the northern Russia (Mezen district, Archangelsk region). Komi samples, especially Izhemski Komi, were significantly different from all other populations studied. These can be considered as a second pole of genetic diversity in northern Europe (in addition to the pole, occupied by Finns), as they had a distinct ancestry component. Russians from Mezen and the Finnic-speaking Veps were positioned between the two poles, but differed from each other in the proportions of Komi and Finnic ancestries. In general, our data provides a more complete genetic map of Europe accounting for the diversity in its most eastern (northeastern) populations.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Geographic locations of the populations analyzed.
Key: Komi_Izh – Izhemski Komi, Komi_Pr – Priluzski Komi, Rus_Tv – Russians from Tver, Rus_Ku – Russians from Kursk, Rus_Mu – Russians from Murom, Rus_Me – Russians from Mezen, Finns_He – Finns from Helsinki, Finns_Ku – Finns from Kuusamo, Rus_HGDP – Russians from the Human Genome Diversity Panel.
Figure 2
Figure 2. Principal component analysis of the autosomal genotypic data of individuals from European Russia.
The first two PCs are shown. Each individual is represented by a sign and the color label corresponding to their self-identified population origin. Population designations are the same as in Figure 1.
Figure 3
Figure 3. Principal component analysis of the combined autosomal genotypic data of individuals from Russia and seven European countries (Finnland, Estonia, Latvia, Poland, Czech Republic, Germany and Italia [22]).
The first two PCs are shown. The color legend for the predefined population labels is indicated within the plot. Population designations are the same as in Figure 1.
Figure 4
Figure 4. ADMIXTURE clustering of individuals from the populations studied.
Results obtained at K = 2 to 5 are shown. Each individual is represented by a vertical line composed of colored segments, in which each segment represents the proportion of an individual’s ancestry derived from one of the K ancestral populations. Individuals are grouped by population (labeled on the bottom of the graph). In addition to populations used in principal component analysis, a Chinese sample (Han Chinese from Beijing [22]) was included. The results at K = 5 are also accompanied by average ancestral proportions by population (*). Population designations are the same as in Figure 1.
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