ORIGINAL RESEARCH

The role of Caucasian, Iranian and Steppe populations in shaping the diversity of autosomal gene pool of the Eastern Caucasus

Balanovska EV1,2, Gorin IO1, Petrushenko VS1, Ponomarev GYu1, Belov RO1, Pocheshkhova EA1,3, Salaev VA1, Iskandarov NA1, Pylev VYu1,2
About authors

1 Bochkov Research Centre of Medical Genetics, Moscow, Russia

2 Biobank of North Eurasia, Moscow, Russia

3 Kuban State Medical University, Krasnodar, Russia

Correspondence should be addressed: Vladimir Yu. Pylev
Moskvorechye, 1, 115522, Moscow, Russia; ur.xednay@tsurteerf

About paper

Funding: the study was supported by the RSF grant № 21-74-00156 (bioinformatics analysis of gene pools of the Eastern Caucasus and Transcaucasia), State Assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre of Medical Genetics (cartographic analysis, data interpretation), Biobank of North Eurasia (expedition survey).

Acknowledgements: the authors would like to thank all members of the expedition survey (sample donors) and the autonomous non-profit organization “Biobank of North Eurasia” for access to DNA collections and the genotyping results.

Author contribution: Balanovska EV — management, design, manuscript writing and expedition survey of the Dagestani peoples; Gorin IO, Petrushenko VS — bioinformatics analysis; Ponomarev GYu — work with DNA collections, cartographic analysis; Belov RO — work with DNA collections, manuscript formatting; Pocheshkhova EA — expedition survey of the Dagestani peoples; Salaev VA — organization and conducting the expedition survey of the Talysh living in Azerbaijan; Iskandarov NA — organization and conducting the expedition survey of the Azerbaijanis living in Azerbaijan; Pylev VYu — organization of genotyping, statistical analysis.

Compliance with ethical standards: the study was approved by the Ethics Commitee of the Bochkov Research Centre of Medical Genetics (protocol № 1 of 29 June 2020).

Received: 2023-04-26 Accepted: 2023-05-13 Published online: 2023-05-29
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Fig. 1. Dynamic changes in the contribution of the “Dagestan” ADMIXTURE ancestral component to the genomes of Dargins, Laks, Tabasarans, and Tat people in the models with К-values between 3 and 15
Fig. 2. Plot of principal components 1–2 (РСА) of the genome variability in peoples of the Eastern Caucasus in the context of neighboring populations. The map of the principal component 2 is provided in the inset. 1 — Kumyks; 2 — Tindi people; 3 — Avars; 4 — Dargins; 5 — Hinukh people; 6 — Azerbaijanis living in Dagestan; 7 — Laks; 8 — Kaitags; 9 — Tat people living in Dagestan; 10 — Didoi people; 11 — Kubachins; 12 — Aghuls; 13 — Tabasarans; 14 — Tsakhur people; 15 — Georgians; 16 — Rutul people; 17 — Lezghins; 18 — Azerbaijanis-Karapapakhs; 19 — Azerbaijanis living in Azerbaijan; 20 —Yazidis; 21 — Talysh; 22 — Kurds; 23 — Azerbaijanis living in Iran [3]; 24 — Iranian-speaking Iranians [9]
Fig. 3. Contributions of the ADMIXTURE ancestral components (%) to the genomes of peoples of the Eastern Caucasus, К = 3, К = 10, К = 20
Fig. 4. Relative contributions of the ADMIXTURE ancestral components (%) to the genomes of peoples of the Eastern Caucasus, К = 3, К = 10, К = 20
Table 1. Linguistic affiliation and number of the studied genomes
Note: literature data on peoples of Iran [3, 9].
Table 2. Clusters in the genetic space of principal components 1–2 (РСА) and ethno-linguistic affiliation of genomes in each cluster