DEMOGRAPHIC HISTORY AND GENETIC VARIATION OF THE ARMENIAN POPULATION

We introduce a sizable (n=34) whole-genome dataset on Armenians, a population inhabiting the region in West Asia known as the Armenian highlands. Equipped with this genetic data, we conducted a whole-genome study of Armenians and deciphered their fine-scale population structure and complex demographic history. We demonstrated that the Armenian populations from western, central, and eastern parts of the highlands are relatively homogeneous. The Sasun, a population in the south that had been argued to have received a major genetic contribution from Assyrians, was instead shown to have derived its slightly divergent genetic profile from a bottleneck that occurred in the recent past. We then investigated the debated question on the genetic origin of Armenians and failed to find any significant support for historical suggestions by Herodotus of their Balkan-related ancestry. We also checked the degree of continuity of modern Armenians with ancient inhabitants of the eastern Armenian highlands and found that the population has remained unadmixed through the Neolithic and at least until the first part of the Bronze Age. However, we detected a genetic input from a source linked to Early European Farmers at some point after the Early Bronze Age, indicating that this period has been marked by large-scale migrations in the whole region. Additionally, we catalogued an abundance of new mutations unique to the population, including a missense mutation predicted to cause familial Mediterranean fever (FMF), an autoinflammatory disorder highly prevalent in Armenians. Thus, we highlight the importance of further genetic and medical studies of this population.