Abstract
The Armenians are a culturally isolated population who historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus, but remain under-represented in genetic studies and have a complex history including a major geographic displacement during World War I. Here, we analyse genome-wide variation in 173 Armenians and compare them with 78 other worldwide populations. We find that Armenians form a distinctive cluster linking the Near East, Europe, and the Caucasus. We show that Armenian diversity can be explained by several mixtures of Eurasian populations that occurred between ~3000 and ~2000 bce, a period characterized by major population migrations after the domestication of the horse, appearance of chariots, and the rise of advanced civilizations in the Near East. However, genetic signals of population mixture cease after ~1200 bce when Bronze Age civilizations in the Eastern Mediterranean world suddenly and violently collapsed. Armenians have since remained isolated and genetic structure within the population developed ~500 years ago when Armenia was divided between the Ottomans and the Safavid Empire in Iran. Finally, we show that Armenians have higher genetic affinity to Neolithic Europeans than other present-day Near Easterners, and that 29% of Armenian ancestry may originate from an ancestral population that is best represented by Neolithic Europeans.
Highlights
Insights into the human past come from diverse areas including history, archaeology, linguistics, and, increasingly, genetics
Ancient DNA studies have shown that the genetic landscape has been continuously shifting,[3,4] possibly triggered by environmental and cultural transitions. aDNA research is useful for understanding past demographic events; samples are limited and obtaining aDNA from warm climates remains a challenge
Armenians’ relationship to world populations To study the Armenians’ genetic relationship to worldwide populations, we computed principal components using 78 populations (Supplementary Table 1) and projected the Armenians onto the plot in a procedure called ‘PCA projection’[14] (Figure 2a), which ensures that the PCA patterns are not affected by the large number of Armenians used in the analysis
Summary
Insights into the human past come from diverse areas including history, archaeology, linguistics, and, increasingly, genetics. The observed patterns of present-day genetic diversity can be compared with models that include past population processes such as migration, divergence and admixture, and the best model chosen. These models often require representing ancestral populations and mostly consider present-day populations as direct descendants of the ancient inhabitants of a region. We have previously shown that studying genetic isolates provides insights into human genetic variation and past demographic events.[5] For example, by studying Jews, Druze, and Christians from the Near East, we showed that the region had more genetic affinity to Europe 2000 years ago than at present.[5]
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