Abstract

This study explored the gene pools of Russian and Karelian populations of Tver region. Forty-one samples representing Tver Karels (n = 11) and Russians residing in the Western, Central and Eastern districts of Tver region (n = 30) were genotyped using a genome-wide panel of 4,559,465 SNPs. In order to investigate the phenomenon of genetic admixture between Slavic and Finnish-speaking populations, the obtained results were compared to the data on the Russian populations inhabiting the neighboring territories, Karels from Karelia and other North Eastern Europeans. Studying the gene pools of Russian populations with a genome-wide SNP panel is essential for cataloging their genetic diversity and identifying the distinct features of regional gene pools; in addition, it provides valuable data for practical pharmacogenomics and forensics. Using the principal component analysis, the ADMIXTURE method and D- and f3-statistics, we demonstrated that the gene pool of Tver Karels is closest to the gene pool of Karelian Karels, despite a long (300 to 500 years) history of living among the larger Russian population and the twentyfold population decline during the 20th century. At the same time, the gene pool of Tver Karels exhibits more pronounced similarity to the gene pool of the studied Russian populations than does any other Karelian population. The genetic admixture between Tver Russians and Tver Karels occurred due to a more intense gene flow from Russians to Karels whereas the gene flow from Karels to Russians was much weaker: Tver Russians turned out to be as genetically different from Karels as Pskov Russians. The genetic similarity of Tver Karels to Karelian Karels assessed with the autosomal SNP panel exhibits a slight shift towards the Russian gene pool and is consistent with the previously published analysis of Y-chromosome lineages in these populations that detected no admixture between Tver Karels and Russians.

Highlights

  • Acknowledgement: we thank all the donors who took part in this study, the Biobank of North Eurasia for DNA collections and Napolskikh VV, the corresponding member of RAS, for his contribution to data interpretation

  • Since we aimed to study interactions between the Russian and Karelian gene pools, the plan was to compile the Russian subset in such a way that it would represent the areas that did not overlap geographically with the habitat of Tver Karels but were in the vicinity to it

  • The Tver Karelian sample is closer to the samples of Karelian Karels and at some distance from the analyzed Russian populations (Tver, Novgorod, Vologda and Yaroslavl)

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Summary

Introduction

Acknowledgement: we thank all the donors who took part in this study, the Biobank of North Eurasia for DNA collections and Napolskikh VV, the corresponding member of RAS, for his contribution to data interpretation. Bioinformatic analysis and interpretation of the obtained results were carried out under the State Assignment of the Russian Ministry of Science and Higher Education for Bochkov Research Centre for Medical Genetics. Эти данные по популяции тверских карел (n = 11) и русских из западных, центральных и восточных районов Тверской области (n = 30) проанализированы на широком фоне русских популяций соседних областей, карел Карелии и других популяций Северо-Восточной Европы с целью изучения феномена взаимопроникновения генофондов славянского и финноязычного населения. Но при этом генофонд тверских карел более сходен с русским генофондом, чем генофонд других карельских популяций. Сближение генофондов русских и карел Тверской области происходит за счет более интенсивного потока генов от русских к карелам и при малозаметном потоке генов от карел к русским: тверские русские оказались столь же генетически отличны от карел, как, например, псковские. Бочкова (биоинформатический анализ данных), гранта Российского фонда фундаментальных исследований No 20-09-00479 а (анализ генеалогической информации, интерпретация результатов, написание текста)

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