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 also 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 checked the degree of continuity of modern Armenians with ancient inhabitants of the eastern Armenian highlands and detected a genetic input into the region from a source linked to Neolithic Levantine Farmers at some point after the Early Bronze Age. Additionally, we cataloged an abundance of new mutations unique to the population, including a missense mutation predicted to cause familial Mediterranean fever, an autoinflammatory disorder highly prevalent in Armenians. Thus, we highlight the importance of further genetic and medical studies of this population.

中文翻译：

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亚美尼亚人口的人口历史和遗传变异。


我们介绍了一个相当大的 （n = 34） 亚美尼亚人全基因组数据集，亚美尼亚人是居住在西亚地区（称为亚美尼亚高地的人群）。利用这些遗传数据，我们对亚美尼亚人进行了全基因组研究，并破译了他们精细的人口结构和复杂的人口历史。我们证明了来自高地西部、中部和东部的亚美尼亚人口相对同质。萨松人是南方的一个人群，曾被认为从亚述人那里获得了重要的遗传贡献，但事实证明，其遗传图谱略有不同，来自最近发生的瓶颈。我们还调查了关于亚美尼亚人遗传起源的争议问题，未能找到任何对希罗多德关于他们与巴尔干相关血统的历史建议的重要支持。我们检查了现代亚美尼亚人与亚美尼亚东部高地古代居民的连续性程度，并检测到在青铜时代早期之后的某个时候，与新石器时代黎凡特农民有关的来源向该地区输入了基因。此外，我们还对人群特有的大量新突变进行了编目，包括预测会导致家族性地中海热的错义突变，这是一种在亚美尼亚人中非常普遍的自身炎症性疾病。因此，我们强调了对该人群进行进一步遗传和医学研究的重要性。