Footprints of interaction among Finniс-speaking, Slavic, and Turkic-speaking populations in modern gene pool and their reflection in pharmacogenetics

About authors

1 Bochkov Research Centre of Medical Genetics, Moscow, Russia

2 Vavilov Institute of General Genetics, Moscow, Russia

3 Biobank of North Eurasia, Moscow, Russia

4 Federal Research and Clinical Center of Physical-Chemical Medicine, Moscow, Russia

Correspondence should be addressed: Elena V. Balanovska
Moskvorechie, 1, 115522, Moscow, Russia; ur.liam@aksvonalab

About paper

Funding: the study was supported by RFBR grant 20-29-01017 Ancient DNA (bioinformatics analysis), RSF grant 21-14-00363 (analysis of pharmacogenetics markers), and State Assignment of the Ministry of Science and Higher Education of the Russian Federation to Vavilov Institute of General Genetics (cartographic analysis) and Bochkov Research Centre of Medical Genetics (data interpretation).

Acknowledgements: the authors thank all sample donors who participated in this study and the Biobank of North Eurasia for the access to DNA collections.

Received: 2022-04-01 Accepted: 2022-04-16 Published online: 2022-04-26

Genetic contribution of pre-Slavic populations to gene pools of modern Russia is increasingly relevant, along with genetic footprints of the Golden Horde invasion. The novel genome-wide approaches enable advanced solutions in this field. The study aimed at searching for the footprints of genetic interaction among Finnicspeaking, Slavic and Turkic-speaking populations of Central Russia and Volga Region and their reflection in pharmacogenetic landscape. Modeling ancestral components by ADMIXTURE software and their mapping involved genome-wide genotyping data for 248 individual genomes representing 47 populations of 9 ethnic groups. Of specific ancestral components identified in each of the Finnic-speaking peoples, only Mordovian ancestral components are common for all populations within the studied geographic area, regardless of their linguistic affiliation. Gene pools of Russian populations include 80% of intrinsic component, 19% contribution from Finnic-speaking peoples, and 1% of Central Asian influence. The Tatar gene pool combines all identified ancestral components, including 81% contribution from Finnic-speaking peoples and only 12% of Central Asian influence, which prevents using it as a reference for the assessment of Golden Horde footprints in Russian gene pools. A map of genetic distances from Ryazan Russians based on a panel of 42 pharmacogenetic markers reveals a landscape strikingly independent from the selectively neutral ancestral genomic patterns. For instance, populations of Mordovia, Kaluga, Smolensk, and Kostroma regions are the closest to Ryazan Russians in pharmacogenetic status, whereas populations of Ryazan and Nizhny Novgorod regions have strikingly divergent pharmacogenetic status despite the similarity of the selectively neutral ancestral genomic patterns. These findings confirm the relevance of targeted pharmacogenetic characterization for gene pools of Russia.

Keywords: pharmacogenetics, gene pool, gene geography, ancestral component, ADMIXTURE, genome-wide panel, European part of Russia