A genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans

Background: The origin of the Etruscan civilization (Etruria, Central Italy) is a long-standing subject of debate among scholars from different disciplines. The bulk of the information has been reconstructed from ancient texts and archaeological findings and, in the last few years, through the analysis of uniparental genetic markers. Methods: By meta-analyzing genome-wide data from The 1000 Genomes Project and the literature, we were able to compare the genomic patterns (>540,000 SNPs) of present day Tuscans (N = 98) with other population groups from the main hypothetical source populations, namely, Europe and the Middle East. Results: Admixture analysis indicates the presence of 25-34% of Middle Eastern component in modern Tuscans. Different analyses have been carried out using identity-by-state (IBS) values and genetic distances point to Eastern Anatolia/Southern Caucasus as the most likely geographic origin of the main Middle Eastern genetic component observed in the genome of modern Tuscans. Conclusions: The data indicate that the admixture event between local Tuscans and Middle Easterners could have occurred in Central Italy about 2,600-3,100 years ago (y.a.). On the whole, the results validate the theory of the ancient historian Herodotus on the origin of Etruscans.Ministerio de Ciencia e InnovaciónXunta de Galicia; Plan Galego IDTXunta de Galicia; Consellería de SanidadeInsitituto Carlos IIIFondo de Investigación SanitariaPlan Nacional de I+D+Ifonso FEDE