Abstract

There are still several unanswered questions regarding about ancient events in the Lithuanian population. The Lithuanians, as the subject of this study, are of great interest as they represent a partially isolated population maintaining an ancient genetic composition and show genetic uniqueness in European comparisons. To elucidate the genetic relationships between the Lithuania and North-Eastern European and West Siberian populations, we analyzed the population structure, effective population size, and recent positive selection from genome-wide single nucleotide polymorphism (SNP) data. We identified the close genetic proximity of Lithuanians to neighboring populations (Latvians, Estonians, Belarusians) and in part with West and South Slavs (Poles, Slovaks, and Slovenians), however, with particular genetic distinctiveness. The estimated long-term Ne values ranged from ~5900 in the Estonian population to ~2400 in the South Russian population. The divergence times between the Lithuanian and study populations ranged from 240 to 12,871 YBP. We also found evidence of selection in 24 regions, 21 of which have not been discovered in previous analyses of selection. Undoubtedly, the genetic diversity analysis of geographically specific regions may provide new insights into microevolutionary processes affecting local human populations.

Highlights

  • Recent genetic research has revealed that Lithuanians represent a partially isolated population maintaining an ancient genetic composition and genetic uniqueness within the European context [1]

  • Our aim was to assess the genetic relationships between the Lithuanian and NorthEastern European and West Siberian populations by analyzing population structure, effective population size, and recent positive selection from whole-genome single nucleotide polymorphism (SNP) data

  • We analyzed autosomal genome-wide SNPs to elucidate the genetic relationships between the Lithuanina and North-Eastern European and West

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Summary

Introduction

Recent genetic research has revealed that Lithuanians represent a partially isolated population maintaining an ancient genetic composition and genetic uniqueness within the European context [1]. Lithuania is a country in northeastern Europe surrounded by the Baltic sea in the west; Latvia and Estonia in the North; Russia in the East; Belarus in the Southeast; and Poland in the South. Two main regions Aukstaitija (West, South, and East) and Zemaitija (North, West, and South) can currently be distinguished in the Lithuanian population. Lithuania is a complex amalgam between the former Baltic tribes speaking the most archaic Indo-European language [2]. The first settlers of Lithuania arrived in West Lithuania along the Baltic Sea after the last glaciation around 11,000 years before present [4]. These people arrived from Western Europe and are related to hunter–

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