Urnikytė Alina, Molytė Alma, Pranckevičienė Erinija, Kučinskienė Zita Aušrelė, Kučinskas Vaidutis
Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškiu St. 2, LT-08661 Vilnius, Lithuania.
Department of Information Systems, Faculty of Fundamentals Sciences, Vilnius Gediminas Technical University Saulėtekio al. 11, LT-10223 Vilnius, Lithuania.
Genes (Basel). 2020 Mar 10;11(3):293. doi: 10.3390/genes11030293.
The prehistory of the Lithuanian population and genetic relationship to other populations are poorly studied. Thus, the Lithuanian population, as an object of study, is interesting due to its partial isolation with genetic distinctiveness within the European context and with preserved ancient genetic composition. The main objects of this study was to infer demographic parameters, effective population size (), and divergence time using high-density single nucleotide polymorphism (SNP) genotyping data generated with the Illumina HumanOmmiExpress-12v1.1 array in 295 individuals from the Lithuanian population and to compare our data with other populations from the Human Genome Cell Line Diversity Panel (HGDP-CEPH). We also aimed to reconstruct past events between the main ethnolinguistic regions-Aukštaitija and Žemaitija of Lithuania. Historically, these regions probably developed as two independent Baltic tribes. Our results of in the Lithuanian population through time demonstrated a substantial reduction of over the 150,000-25,000 years before present (YBP). The estimated long-term of the Lithuanian population is quite low-it equals 5404, which likely is a consequence of the bottlenecks associated with the last glacial period of 25,000-12,000 YBP in Europe. The obtained divergence time estimates between the study populations are in agreement with recent studies. The reconstructed past events in Aukštaitija and Žemaitija showed significant differences between these two regions of Lithuania.
立陶宛人口的史前史以及与其他人群的遗传关系研究甚少。因此，立陶宛人口作为一个研究对象很有意思，因为在欧洲范围内它处于部分隔离状态，具有独特的遗传特征，且保留了古老的基因组成。本研究的主要目的是利用Illumina HumanOmmiExpress - 12v1.1芯片对295名立陶宛人群个体进行基因分型所产生的高密度单核苷酸多态性（SNP）数据，推断人口统计学参数、有效种群大小（）和分化时间，并将我们的数据与人类基因组细胞系多样性面板（HGDP - CEPH）中的其他人群进行比较。我们还旨在重建立陶宛主要民族语言地区——奥克什泰蒂亚和泽梅季亚之间过去发生的事件。从历史上看，这些地区可能是作为两个独立的波罗的海部落发展起来的。我们对立陶宛人群随时间变化的研究结果表明，在距今150,000 - 25,000年期间，有效种群大小大幅减少。立陶宛人群估计的长期有效种群大小相当低——等于5404，这可能是与欧洲25,000 - 12,000年前末次冰期相关的瓶颈效应的结果。研究人群之间获得的分化时间估计与近期研究结果一致。在奥克什泰蒂亚和泽梅季亚重建的过去事件显示，立陶宛的这两个地区之间存在显著差异。
