Armenian Genetics: Abstracts and Summaries

by Kevin Alan Brook

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DNA testing will show your connections with other families and ethnic groups. The database includes not only Armenians but also other Caucasian peoples (Azeris, Laks, Georgians, Jews, etc.) and members of many other ethnic groups. Once you've submitted your DNA sample, you'll be eligible to join the "Armenian DNA Project" if you're an Armenian either paternally or maternally. There are several thousand Armenians in the project.

The Armenian people traditionally lived not only on the territory of the modern nation of Armenia but also in eastern Turkey. Their language is part of the great Indo-European family of languages but is written in a script that's unique to the Armenians. There are western and eastern dialects of the language.

Armenian men's most common Y-DNA (paternal) haplogroup is R1b, found in about 28 percent of those studied. J2 is the next most common at a frequency of 22 percent. Other haplogroups found among them, in descending order of frequencies, include G (11%), J1 (11%), R1a (8%), T (6%), E (5%), I (4%), L (4%), N (2%), and others (1%).

Some members of the "Armenian DNA Project" are part of the branch of R1b known as R1b1a2a* (L23+). A smaller number in the project are located in the branch called R1b1a2* (L265+). These branches are distinguishable from the R1b branches of Europe. That's why Armenians don't belong to the European branches of R1b called U106 and P312.

J1 is common in the Near East. In the "Armenian DNA Project" there are members of the haplogroup branches J1*, J1c3d, and J1c3d1. J2 haplogroups found among Armenians include J2a*, J2a3, J2a4, J2a4a, J2a4b, J2a4b1, J2a4d, J2a4h2, J2a4h2a, J2a4h2f, J2a4h2g, J2b*, and J2b1.

Within E, the haplogroup E1b1b1 was found among members of the "Armenian DNA Project". They belong to branches called V12, V13, V22, and M84/M34.

Within L, Armenians in the project belong to the branches named L2* and L2a. These are found in the Middle East and Mediterranean regions and distinguishable from the common L haplogroups of India and Pakistan.

Armenian men in the project have such G subhaplogroups as G2a3a* (their most frequent G subhaplogroup as of November 26, 2011), G2a* (their second-most frequent G subhaplogroup as of November 26, 2011), G1a, G2a3a1*, G2a3a2*, G2a3b1a*, G2a3b1a1*, and a smattering of others.

F3 is a haplogroup within F that's very infrequently found among Armenian men. Armenians in the project belong to the branches called P96 and M282.

In terms of mtDNA (maternal DNA) haplogroups, Armenians belong to such haplogroups as U, V, F1b1, and R.

Major studies of Armenians

Kristian J. Herrera, Robert K. Lowery, Laura Hadden, Silvia Calderon, Carolina Chiou, Levon Yepiskoposyan, Maria Regueiro, Peter A. Underhill, and Rene J. Herrera. "Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists." European Journal of Human Genetics (November 16, 2011).
      Figure 2 tells the "Y-haplogroup phylogeography within Ararat Valley, Gardman, Lake Van and Sasun." It's useful because it lists the Y-DNA haplogroups found in each region. Haplogroup R1b1b1* was found to be the most frequent haplogroup in all four regions; a total of 115 men out of the 413 tested possessed it. Haplogroups J2a* and G2a* were also fairly frequent, among others. Haplogroup J2a2a was unevenly distributed, with a number of holders of it from the Ararat Valley and Gardman but only one from the Lake Van region and none from the Sasun region. Haplogroup R2 was found in 18 of the 104 tested men from the Sasun region but only one from the Lake Van region and absolutely none from the Gardman and Ararat Valley areas. Haplogroup R1a1 was not very frequent in any of the four regions. Excerpts from the abstract:

"[...] we assess Y-chromosomal diversity in four geographically distinct populations that represent the extent of historical Armenia. We find a striking prominence of haplogroups previously implicated with the Agricultural Revolution in the Near East, including the J2a-M410-, R1b1b1*-L23-, G2a-P15- and J1-M267-derived lineages. Given that the Last Glacial Maximum event in the Armenian plateau occured a few millennia before the Neolithic era, we envision a scenario in which its repopulation was achieved mainly by the arrival of farmers from the Fertile Crescent temporally coincident with the initial inception of farming in Greece. However, we detect very restricted genetic affinities with Europe that suggest any later cultural diffusions from Armenia to Europe were not associated with substantial amounts of paternal gene flow, despite the presence of closely related Indo-European languages in both Armenia and Southeast Europe."

Robert K. Lowery, Kristian J. Herrera, Dianne A. Barrett, Rosa Rodriguez, Laura R. M. Hadden, Ashot Harutyunyan, Ashot Margaryan, Levon Yepiskoposyan, and Rene J. Herrera. "Regionalized autosomal STR profiles among Armenian groups suggest disparate genetic influences." American Journal of Physical Anthropology. First published online on August 8, 2011. Abstract:

"The archeology and ethnology of Armenia suggest that this region has acted as a crossroads for human migrations from Europe and the Middle East since at least the Neolithic. Near continual foreign influx has, in turn, led to the supposition that the gene pools of geographically separated Armenian populations may have diverged as differing historical influences potentially left distinct genetic traces in the various regions of the Armenian plateau. In this study, we seek to address whether any evidence for such genetic regional partitioning in Armenians exists by analyzing, for the first time, 15 autosomal short tandem repeat (STR) loci in 404 Armenians from four geographically well-characterized collections (Ararat Valley, Gardman, Sasun, and Lake Van) that represent distinct communities from across Historical Armenia. In addition, to determine whether genetic differences among these four Armenian populations are the result of differential affinities to populations of known historical influence in Armenia, we utilize 27 biogeographically targeted reference populations for phylogenetic and admixture analyses. From these examinations, we find that while close genetic affiliations exist between the two easternmost Armenian groups analyzed, Ararat Valley and Gardman, the remaining two populations display substantial distinctions. In particular, Sasun is distinguished by evidence for genetic contributions from Turkey, while a stronger Balkan component is detected in Lake Van, potentially suggestive of remnant genetic influences from ancient Greek and Phrygian populations in this region."

Michael E. Weale, Levon Yepiskoposyan, Rolf F. Jager, Nelli Hovhannisyan, Armine Khudoyan, Oliver Burbage-Hall, Neil Bradman, and Mark G. Thomas. "Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group." Human Genetics 109:6 (December 2001): pages 659-674.
      734 Armenian males were sampled for their Y-DNA markers and their genetics were compared with other populations. Excerpts from the abstract:

"[...] We found significant regional stratification, on a level greater than that found in some comparisons between different ethno-national identities. [...] The haplotype distribution and pattern of genetic distances suggest a high degree of genetic isolation in the mountainous southern and eastern regions, while in the northern, central and western regions there has been greater admixture with populations from neighbouring Middle Eastern countries. Georgia, to the north of Armenia, also appears genetically more distinct, suggesting that in the past Trans-Caucasia may have acted as a genetic barrier. A Bayesian full-likelihood analysis of the Armenian sample yields a mean estimate for the start of population growth of 4.8 thousand years ago (95% credible interval: 2.0-11.1), consistent with the onset of Neolithic farming. The more isolated southern and eastern regions have high frequencies of a microsatellite defined cluster within haplogroup 1 that is centred on a modal haplotype one step removed from the Atlantic Modal Haplotype, the centre of a cluster found at high frequencies in England, Friesland and Atlantic populations, and which may represent a remnant paternal signal of a Paleolithic migration event."

Robert K. Lowery, Kristian Herrera, Gabriel Uribe, Maria Reguiero, and Rene J. Herrera. "Sub-population structure evident in forensic Y-STR profiles from Armenian geographical groups." Legal Medicine (December 3, 2012, published online), doi:10.1016/j.legalmed.2012.10.003 Excerpts from the Abstract:

"[...] the regions within the historical boundaries of Armenia possess unique demographic histories, [...] In the present study, we analyze the Armenian population sub-structure utilizing 17 Y-chromosome short tandem repeat (Y-STR) loci of 412 Armenians from four geographically and anthropologically well-defined groups (Ararat Valley, Gardman, Lake Van and Sasun). To place the genetic composition of Armenia in a regional and historic context, we have compared the Y-STR profiles from these four Armenian collections to 18 current-day Eurasian populations and two ancient DNA collections. Our results illustrate regional trends in Armenian paternal lineages and locale-specific patterns of affinities with neighboring regions. Additionally, we observe a phylogenetic relationship between the Northern Caucasus and the group from Sasun, which offers an explanation for the genetic divergence of this group from other three Armenian collections. [...]"

David Tarkhnishvili, Alexander Gavashelishvili, Marine Murtskhvaladze, Mariam Gabelaia, and Gigi Tevzadze. "Human paternal lineages, languages, and environment in the Caucasus." Human Biology 86:2 (May 2014): pages 113-130.
      Y-chromosome STR (short tandem-repeat) markers of Armenians were compared with those of Georgians and other Caucasian peoples. The Y-DNA haplogroup R1b is found in a "relatively high proportion" of Armenian men, whose language is Indo-European. The researchers were able to associate R1b with Indo-Europeans in general.

Siiri Rootsi, Natalie M. Myres, Alice A. Lin, Mari Järve, Roy J. King, Ildus A. Kutuev, Vicente M. Cabrera, Elza K. Khusnutdinova, Kärt Varendi, Hovhannes Sahakyan, Doron M. Behar, Rita Khusainova, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Levon Yepiskoposyan, Ardeshir Bahmanimehr, Shirin Farjadian, Alena Kushniarevich, Rene J. Herrera, Viola Grugni, Vincenza Battaglia, Carmela Nici, Francesca Crobu, Sena Karachanak, Baharak Hooshiar Kashani, Massoud Houshmand, Mohammad H. Sanati, Draga Toncheva, Antonella Lisa, Ornella Semino, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild, and Peter A. Underhill. "Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus." European Journal of Human Genetics 20 (2012): pages 1275-1282. First published online on May 16, 2012.
      426 Armenian males included in this research, updated from a previous study by Yunusbaev et al., and 12% of them had a G haplogroup. Supplementary Table 1 tells us about the G subclades among these Armenians: 2.1% in G-M406, 1.6% in G-M285, 1.6% in G-P303, 1.4% in G-P15, 1.4% in G-U1, 1.2% in G-P16, and all others under 1% each. For G1 haplogroups the Armenian frequency was 2.6%. Excerpts:

"[...] First, we calculated haplogroup diversity using data in Supplementary Table S1 for the 52 instances when total population sample size exceeded 50 individuals and Z5 hg G chromosomes were observed. Then we applied a 10% overall hg G frequency threshold and the additional specification that both haplogroup G1 and G2 lineages also be present. In the ten remaining populations, haplogroup diversity spanned [...] to highs of 0.88 in Azeris (Iran) and 0.89 in eastern Anatolia and 0.90 in Armenia. We estimate that the geographic origin of hg G plausibly locates somewhere nearby eastern Anatolia, Armenia or western Iran. [...]"

Viola Grugni, Vincenza Battaglia, Baharak Hooshiar Kashani, Silvia Parolo, Nadia Al-Zahery, Alessandro Achilli, Anna Olivieri, Francesca Gandini, Massoud Houshmand, Mohammad Hossein Sanati, Antonio Torroni, and Ornella Semino. "Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians." PLoS ONE 7(7) (July 18, 2012): e41252.
      938 males from 15 ethnic groups living in Iran were tested on their Y-chromosomes. Among those tested were 34 Armenians from the city of Tehran. The study notes that "the present-day [Armenian] community [in Iran] is a Christian minority of no more than 100,000 individuals who mostly live in Tehran and the Jolfa district of Isfahan". 8.8% of the study's Armenians from Tehran carry the paragroup J2a-M67*. About 24% of the Armenians carry the haplogroup R1b-M269. The researchers provided a "Principal component analysis (PCA)" diagram showing the affinities and clusters between the different ethnic groups studied in comparison with non-Iranian peoples from Africa, Europe, and Asia. Their Y-DNA frequency data let us see that Armenians from Tehran cluster close to the Lur people of Lorestan and fairly close to the people of all regions of Turkey. Excerpt:

"Iranian groups do not cluster all together, occupying intermediate positions among Arab, Near Eastern and Asian clusters. In this scenario, it is worth of noticing the position of three Iranian groups: [...] (ii) Armenians from Tehran (THE-Ar), whose position, in the upper part of the Iranian distribution, indicates a close affinity with the Near Eastern cluster, while their position near Turkey and Caucasus groups, due to the high frequency R1b-M269 and other European markers (eg: I-M170), is in agreement with their Armenia origin; [...]"

Levon Yepiskoposyan, Anahit Hovhannisyan, and Zaruhi Khachatryan. "Genetic Structure of the Armenian Population." Archivum Immunologiae et Therapiae Experimentalis 64: Supplement 1 (December 2016): pages 113-116. Also electronically published on January 12, 2017.
      A review of "studies on the genetic structure of both modern and ancient inhabitants of the Armenian Highland".

Oleg Balanovsky, Marina Chukhryaeva, Valery Zaporozhchenko, Vadim Urasin, Maxat Zhabagin, Anahit Hovhannisyan, Anastasiya Agdzhoyan, K. Dibirova, M. Kuznetsova, Sergey M. Koshel, E. Pocheshkhova, I. Alborova, Rosa Skhalyakho, Oleg Utevska, The Genographic Consortium, Kh. Mustafin, Levon Yepiskoposyan, C. Tyler-Smith, and E. Balanovska. "Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia." Human Genetics 136:4 (April 2017): pages 437-450. First published online on March 9, 2017. Excerpts from the Discussion section:

"[...] the West Asian pool of paternal lineages is structured most strongly by the genetic difference between upland and lowland groups. The first group includes populations of the Anatolian, Armenian and Iranian uplands, while the latter includes populations from lowlands of Mesopotamia, the Levant, and the Arabian Peninsula. [...] We found that the Armenian and Azeri populations resembled the main corpus of West Asian populations rather than the North Caucasian cluster (Supplementary Fig. 5). The average haplogroup frequencies in the Armenian populations were much more similar to Turks (genetic distance d = 0.08) and some Iranian populations (d = 0.14) than to neighboring Georgians (genetic distance d = 0.59). [...]"

Miroslava Derenko, Galina Denisova, Boris Malyarchuk, Anahit Hovhannisyan, Zaruhi Khachatryan, Peter Hrechdakian, Andrey Litvinov, and Levon Yepiskoposyan. "Insights into matrilineal genetic structure, differentiation and ancestry of Armenians based on complete mitogenome data." Molecular Genetics and Genomics 294 (August 1, 2019): pages 1547-1559.
      This haplogroup study has 536 mtDNA sequences drawn from 8 populations of ethnic Armenians, including those from Armenia and Turkey. Excerpts from the Abstract:

"[...] Moreover, our phylogeographic analysis reveals common ancestries for some mtDNA lineages shared by West Asians, Transcaucasians, Europeans, Central Asians and Armenians. About third of the mtDNA subhaplogroups found in Armenian gene pool might be considered as Armenian-specific, as these are virtually absent elsewhere in Europe, West Asia and Transcaucasia. [...]"

Major studies of Hamshenis

Ashot Margaryan, Ashot Harutyunyan, Zaruhi Khachatryan, Armine Khudoyan, and Levon Yepiskoposyan. "Paternal lineage analysis supports an Armenian rather than a Central Asian Genetic origin of the Hamshenis." Human Biology 84:4 (August 2012): pages 405-422.
      As expected, this study found that the Hamsheni people who lived in the Pontus region along the southern Black Sea coast and speak an ancient dialect of Armenian are descended from ethnic Armenians. Many Hamshenis profess Islam, whereas most Armenians proper are Christians. The geneticists tested three hypotheses for Hamsheni origins: origin in eastern Armenia, origin in western Armenia, or origin in Central Asia. 82 Hamsheni males had their Y-DNA evaluated and compared with people who live in those regions. According to the abstract, "central historical Armenia" was the original homeland of the Hamsheni people. But I'm really curious why the journal reported that "This paper has been withdrawn." by December 25, 2012.

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