Sarno Stefania, Piccini Fedora, Abondio Paolo, Cilli Elisabetta, Kuyumdjian Elena M, Dimitrov Nedko A, Dilov Chavdar D, De Fanti Sara, Ciani Graziella, Gentilini Davide, Boattini Alessio, Sazzini Marco, Pettener Davide, Luiselli Donata
Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Laboratory of Ancient DNA, Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Am J Biol Anthropol. 2025 Apr;186(4):e70037. doi: 10.1002/ajpa.70037.
Thanks to its pivotal crossroad position, Bulgaria played a fundamental key role during all the migration processes that interested the continent through time. While the genetic variability of the country has been deeply investigated using uniparental markers, previous genome-wide autosomal-based surveys mainly consisted of wider-range analyzes on Europe and the whole Balkan Peninsula. Here, we specifically focused on the Bulgarian population to recapitulate the main patterns of genomic variation and the major events that shaped the present-day genetic landscape.
A total of 112 samples from seven highly representative areas of present-day Bulgaria were collected and genotyped for approximately 720 K genome-wide SNPs, and integrated with previously generated genomic data from wide modern and ancient reference panels to explore fine-scale relationship patterns and detail ancestral contributions.
In addition to the combination of ancient ancestries related to the early Mesolithic hunter-gatherers, Neolithic farmers, and Bronze Age Steppe pastoralists, both haplotype-based analyzes on modern populations and the comparisons with ancient genomes suggest the contribution of population processes that have occurred after the Roman rule and during the Medieval period in shaping the current Bulgarian genetic pool.
Our results align with previous evidence highlighting the impact that some historical events may have had not only in contributing to the ethnical and socio-cultural richness of present-day populations, but also in participating in the formation of the current genomic landscape. By providing new data from modern highly-representative samples, this study integrates further research to provide a comprehensive overview of the genetic history of Bulgaria.
由于其关键的十字路口位置，保加利亚在历史上所有涉及欧洲大陆的移民过程中都发挥了至关重要的作用。虽然该国的遗传变异性已通过单亲标记进行了深入研究，但以前基于全基因组常染色体的调查主要是对欧洲和整个巴尔干半岛进行更广泛的分析。在这里，我们专门聚焦于保加利亚人群，以概括基因组变异的主要模式以及塑造当今遗传格局的重大事件。
从当今保加利亚七个具有高度代表性的地区共收集了112个样本，并对约72万个全基因组单核苷酸多态性进行基因分型，并与先前从广泛的现代和古代参考面板生成的基因组数据相结合，以探索精细尺度的关系模式并详细了解祖先贡献。
除了与早期中石器时代狩猎采集者、新石器时代农民和青铜时代草原牧民相关的古代祖先的组合外，对现代人群基于单倍型的分析以及与古代基因组的比较均表明，罗马统治之后和中世纪期间发生的人口过程对塑造当前保加利亚基因库有贡献。
我们的结果与先前的证据一致，突出了一些历史事件可能不仅对当今人群的种族和社会文化丰富性有贡献，而且还参与了当前基因组格局的形成。通过提供来自现代高代表性样本的新数据，本研究整合了进一步的研究，以全面概述保加利亚的遗传历史。
