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 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.
Authors
- Andrea Manica (ORCID: https://orcid.org/0000-0003-1895-450X)
- Lehti Saag (ORCID: https://orcid.org/0000-0002-2274-8138)
- Pierpaolo Maisano Delser (ORCID: https://orcid.org/0000-0002-1844-1715)
- Joshua G. Schraiber (ORCID: https://orcid.org/0000-0002-7912-2195)
- Ashot Margaryan (ORCID: https://orcid.org/0000-0002-2576-2429)
- Eppie R. Jones (ORCID: https://orcid.org/0000-0002-4590-5415)
- Zhe Xue (ORCID: https://orcid.org/0009-0000-9265-5378)
- Levon Yepiskoposyan (ORCID: https://orcid.org/0000-0001-6113-2072)
- Zaruhi Khachatryan (ORCID: https://orcid.org/0000-0001-8357-5181)
- Anna Hakobyan (ORCID: https://orcid.org/0000-0003-4085-701X)
- Peter Hrechdakian
- Mariya Antonosyan (ORCID: https://orcid.org/0000-0003-4804-6449)
- Jong Bhak (ORCID: https://orcid.org/0000-0002-4228-1299)
- Sungwon Jeon (ORCID: https://orcid.org/0000-0002-2729-9087)
- Hovhannes Sahakyan (ORCID: https://orcid.org/0000-0003-1596-2838)
- Anahit Hovhannisyan (ORCID: https://orcid.org/0000-0003-0617-4469)
Institutions
- QB3 (US)
- University of Southern California (US)
- Estonian Academy of Sciences (EE)
- Trinity College (CA)
- Trinity College Dublin (IE)
- University of Cambridge (GB)
- Max Perutz Labs (AT)
- Biologie Computationnelle, Quantitative et Synthétique (FR)
- Natural History Museum Aarhus (DK)
- Dallas Nephrology Associates (US)
- Institute of Molecular Biology (AM)
- Estonian Biocentre (EE)
- Ulsan National Institute of Science and Technology (KR)
- University of Tartu (EE)
- National Academy of Sciences of Armenia (AM)
Publication Details
- Journal
- The American Journal of Human Genetics
- Published
- 2024-11-25
- DOI
- https://doi.org/10.1016/j.ajhg.2024.10.022
- Citations
- 6
- Primary Topic
- Forensic and Genetic Research
- Type
- article
- Field-Weighted Citation Impact
- 3.30
Funders
- Ministry of Education and Science
- Tartu Ülikool
- European Social Fund