Abstract

Effective population size reflects the history of population growth, contraction, and structuring. When the effect of structuring is negligible, the inferred trajectory of the effective population size can be informative about the key events in the history of a population. We used the IBDNe and DoRIS approaches, which exploit the data on IBD sharing between genomes, to reconstruct the recent effective population size in two population datasets of Russians from Eastern European plain: (1) ethnic Russians sampled from the westernmost part of Russia; (2) ethnic Russians, Bashkirs, and Tatars sampled from the Volga-Ural region. In this way, we examined changes in effective population size among ethnic Russians that reside in their historical area at the West of the plain, and that expanded eastward to come into contact with the indigenous peoples at the East of the plain. We compared the inferred demographic trajectories of each ethnic group to written historical data related to demographic events such as migration, war, colonization, famine, establishment, and collapse of empires. According to IBDNe estimations, 200 generations (~6000 years) ago, the effective size of the ancestral populations of Russians, Bashkirs, and Tatars hovered around 3,000, 30,000, and 8,000 respectively. Then, the ethnic Russians exponentially grew with increasing rates for the last 115 generations and become the largest ethnic group of the plain. Russians do not show any drop in effective population size after the key historical conflicts, including the Mongol invasion. The only exception is a moderate drop in the 17th century, which is well known in Russian history as The Smuta. Our analyses suggest a more eventful recent population history for the two small ethnic groups that came into contact with ethnic Russians in the Volga-Ural region. We found that the effective population size of Bashkirs and Tatars started to decrease during the time of the Mongol invasion. Interestingly, there is an even stronger drop in the effective population size that coincides with the expansion of Russians to the East. Thus, 15–20 generations ago, i.e. in the 16–18th centuries in the trajectories of Bashkirs and Tatars, we observe the bottlenecks of four and twenty thousand, respectively. Our results on the recent effective population size correlate with the key events in the history of populations of the Eastern European plain and have importance for designing biomedical studies in the region.

Highlights

  • Demographic events such as population expansion, contraction, and bottleneck are known to have a strong influence on the genetic variation in the individuals from the affected groups[1]

  • We use the previously published genome-wide datasets of GABRIEL18,19 consortium: the KURSK cohort sampled from the Kursk Region (KR) and the UFA cohort sampled from the Republic of Bashkortostan (RB, Table 1, Fig. 1)

  • Our study revealed the recent effective population size trajectories in Russians from the Eastern European plain

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Summary

Introduction

Demographic events such as population expansion, contraction, and bottleneck are known to have a strong influence on the genetic variation in the individuals from the affected groups[1]. The ethnic Russians are Slavic-speaking people with genetic affinities to Central European populations[21] that expanded to the East of the plain from their historical lands during the last several hundred years[22]. We investigated two cohorts sampled from the area of origin of ethnic Russians (KURSK), and from the area, where the ethnic Russians migrated and came into contact with indigenous peoples (UFA) These cohorts provide a good opportunity to study the recent effective population size in two complex models: (1) a population that exponentially grows and expands to a vast new area while coming in contact with different small populations; (2) small indigenous populations interact with each other while the third big population of migrants comes into contact with them and exponentially grows. To check the accuracy of the IBDNe estimated demography trajectories, we compared them with the DoRIS1 optimized demography scenarios (see details in the section “Methods”)

Methods
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