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.
Highlights
Identifying and understanding patterns of genetic variation within and between populations has long been the major focus of studies in human population genetics
We report an analysis of 165872 single nucleotide polymorphisms (SNPs) in four Russian populations from European Russia, as well as in populations from two of the northernmost Finno-Ugric ethnic groups: Veps and Komi
The plot demonstrated the presence of significant differences between Russian populations from the central part of the Russian Plain, which formed a single cluster on the principal components (PC) plot, and the Russian population from the northern Archangelsk region (Mezen Russians)
Summary
Identifying and understanding patterns of genetic variation within and between populations has long been the major focus of studies in human population genetics. There is a number of studies in which the fine-scale structure of human genetic variation have been examined at a global, continental, geographic region, single country, or even a subpopulation level [3,4,5,6,7,8,9,10,11]. The identified European population substructure correlated well with geography [4,5,6,12]. These studies included many population samples, they mainly represented northern, western, central, and southern Europe, while populations from Eastern
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