Genetic studies on Russians

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European genetic structure (based on SNPs) PC analysis European genetic structure (based on SNPs) PC analysis.png
European genetic structure (based on SNPs) PC analysis

Genetic studies show that Russians are relatively closest to Poles, Belarusians, Ukrainians and other Slavs as well as Latvians, Estonians and Lithuanians. [1] The northern group of Russians are closest to the Finnic-speaking peoples. Russians display quite significant genetic heterogenity, evidence for multiple genetic ancestries and admixture events, and high identity-by-descent sharing with the Finnic people among the population of the north-east of the European part of Russia . [2]

Contents

Y-DNA chromosomes

Eight Y chromosome haplogroup subclades, including R1a, N3, I1b, R1b, I2a, J2, N2, and E3b all together, account for >95% of the total Russian Y chromosomal pool. Of the 1228 samples, 11/1228 (0.9%) were classified up to the root level of haplogroups F and K. Around 22.4% fell into haplogroups and subclades of C, Q, N and R2 which are specific to Siberian, East and South-Central Asian populations. The majority, around 70.1% fell into haplogroups and subclades of I, R1a and R1b which are specific to European populations. [1]

The top four Y-DNA haplogroups among the sample of 1228 Russians are: [1]

mtDNA chromosomes

The mitochondrial gene pool of Russians are represented by mtDNA types belonging to typical West Eurasian groups. East Eurasian admixture was shown to be minimal and existed in low frequencies in the form of Haplogroup M. [3] [4] The same studies indicate Eurasian haplogroups present at a frequency of 97.8% and 98.5% among a sample of 325 and 201 Russians respectively. [3] [4]

Autosomal DNA

Using the clustering algorithm implemented in ADMIXTURE, ancestral genetic components in Balto-Slavic populations were modeled. Ancestral components of the Balto-Slavic gene pool.PNG
Using the clustering algorithm implemented in ADMIXTURE, ancestral genetic components in Balto-Slavic populations were modeled.

Autosomally, Russians are most similar to populations in Eastern Europe, especially other Eastern Slavs. Some populations of the Russian north show significant affinity with the Baltic-Finnic and Komi peoples. [6] They display increased Siberian-like ancestry which entered the Eastern European gene pool between 4700–8000 years ago, after having diverged from East Asians 8800–11,200 years ago. [2]

While all Russians, and other Eastern European ethnic groups display variable amounts of such geneflow from East Asian sources, genetic research suggests even higher amounts of Siberian admixture among Northern and Northwestern Russians, who display high identity-by-descent sharing with the Finnish people. [2]

Eastern Siberian-like ancestry was found at an average frequency of ~8–13% northern and northeastern Russians, while for other groups of Russians this contribution is about ~1-4% . This Eastern Siberian-like ancestry is maximized among modern Nganasan people and a Bronze Age specimen from Southern Siberia (Krasnoyarsk_Krai_BA), suggesting the assimilation and slavification of formerly Uralic-speaking ethnic groups during the expansion of early Slavs. [7] [8] [9] A study by Wang et al. argued that the levels of "Eastern Siberian" ancestry among Russians, but also Finns, may be linked to the diffusion of paternal haplogroup N-M231. [10]

Overall, the population of Russia displays strong genetic heterogenity. [11] [2] [12] Ethnic Russians primarily descended from the early Slavic peoples, which diverged from other Indo-Europeans, and early absorbed Uralic-speaking groups as well as Eurasian Steppe groups. Subsequently Russians expanded further eastwards, later coming into contact with various other groups, such as Turkic, Mongolic and Tungusic peoples as well as Paleo-Siberian groups of Siberia, such as Kets, Yukaghirs and Itelmens. Geneflow between Asian minority groups and Russians contributed to the overall pattern of genome diversity across the different ethno-linguistic groups of Russia. [13] [14] The Russian gene pool, even taking into account contacts with Asians, is a typical European one. It lacks the Mongoloid contribution. [15]

See also

References

  1. 1 2 3 Balanovsky, O; Rootsi, S; Pshenichnov, A; et al. (January 2008). "Two sources of the Russian patrilineal heritage in their Eurasian context". American Journal of Human Genetics. 82 (1): 236–50. doi:10.1016/j.ajhg.2007.09.019. PMC   2253976 . PMID   18179905.
  2. 1 2 3 4 Usoltsev, Dmitrii; Kolosov, Nikita; Rotar, Oxana; Loboda, Alexander; Boyarinova, Maria; Moguchaya, Ekaterina; Kolesova, Ekaterina; Erina, Anastasia; Tolkunova, Kristina; Rezapova, Valeriia; Molotkov, Ivan; Melnik, Olesya; Freylikhman, Olga; Paskar, Nadezhda; Alieva, Asiiat (2024-07-23). "Complex trait susceptibilities and population diversity in a sample of 4,145 Russians". Nature Communications. 15 (1): 6212. doi:10.1038/s41467-024-50304-1. ISSN   2041-1723. PMC   11266540 . PMID   39043636. We present the analysis of genetic and phenotypic data from a cohort of 4,145 individuals collected in three metro areas in western Russia. We show the presence of multiple admixed genetic ancestry clusters spanning from primarily European to Asian and high identity-by-descent sharing with the Finnish population. As a result, there was notable enrichment of Finnish-specific variants in Russia. ... In addition, another study showed that Siberian populations separated from other East Asian populations 8800–11,200 years ago and significantly contributed to the formation of Eastern European populations 4700–8000 years ago16.
  3. 1 2 Malyarchuk, BA; Grzybowski, T; Derenko, MV; Czarny, J; Woźniak, M; Miścicka-Sliwka, D (April 2002). "Mitochondrial DNA variability in Poles and Russians" (PDF). Annals of Human Genetics. 66 (4): 261–283. doi:10.1046/j.1469-1809.2002.00116.x. PMID   12418968. S2CID   221424344. Archived from the original (PDF) on 2012-09-17. Retrieved 2016-05-14.
  4. 1 2 Malyarchuk, B; Derenko, M; Grzybowski, T; et al. (December 2004). "Differentiation of Mitochondrial DNA and Y Chromosomes in Russian Populations" (PDF). Human Biology. 76 (6): 877–900. doi:10.1353/hub.2005.0021. PMID   15974299. S2CID   17385503. Archived from the original (PDF) on 2012-03-25. Retrieved 2016-05-14.
  5. Kushniarevich, Alena; Utevska, Olga; Chuhryaeva, Marina; Agdzhoyan, Anastasia; Dibirova, Khadizhat; Uktveryte, Ingrida; Möls, Märt; Mulahasanovic, Lejla; Pshenichnov, Andrey; Frolova, Svetlana; Shanko, Andrey; Metspalu, Ene; Reidla, Maere; Tambets, Kristiina; Tamm, Erika (2015-09-02). "Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data". PLOS ONE. 10 (9): e0135820. doi: 10.1371/journal.pone.0135820 . ISSN   1932-6203. PMC   4558026 . PMID   26332464.
  6. Khrunin, Andrey V. (March 7, 2013). "A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe". PLOS ONE. 8 (3): e58552. Bibcode:2013PLoSO...858552K. doi: 10.1371/journal.pone.0058552 . PMC   3591355 . PMID   23505534.
  7. Qin, Pengfei; Zhou, Ying; Lou, Haiyi; Lu, Dongsheng; Yang, Xiong; Wang, Yuchen; Jin, Li; Chung, Yeun-Jun; Xu, Shuhua (2015-04-02). "Quantitating and Dating Recent Gene Flow between European and East Asian Populations". Scientific Reports. 5 (1): 9500. doi:10.1038/srep09500. ISSN   2045-2322. PMC   4382708 . PMID   25833680.
  8. Khrunin, Andrey V.; Khokhrin, Denis V.; Filippova, Irina N.; Esko, Tõnu; Nelis, Mari; Bebyakova, Natalia A.; Bolotova, Natalia L.; Klovins, Janis; Nikitina-Zake, Liene; Rehnström, Karola; Ripatti, Samuli; Schreiber, Stefan; Franke, Andre; Macek, Milan; Krulišová, Veronika (2013-03-07). "A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe". PLOS ONE. 8 (3): e58552. doi: 10.1371/journal.pone.0058552 . ISSN   1932-6203. PMC   3591355 . PMID   23505534.
  9. Peltola, Sanni; Majander, Kerttu; Makarov, Nikolaj; Dobrovolskaya, Maria; Nordqvist, Kerkko; Salmela, Elina; Onkamo, Päivi (2023-01-09). "Genetic admixture and language shift in the medieval Volga-Oka interfluve". Current Biology. 33 (1): 174–182.e10. doi: 10.1016/j.cub.2022.11.036 . ISSN   0960-9822.
  10. Wong, Emily H. M.; Khrunin, Andrey; Nichols, Larissa; Pushkarev, Dmitry; Khokhrin, Denis; Verbenko, Dmitry; Evgrafov, Oleg; Knowles, James; Novembre, John; Limborska, Svetlana; Valouev, Anton (2017-01-01). "Reconstructing genetic history of Siberian and Northeastern European populations". Genome Research. 27 (1): 1–14. doi:10.1101/gr.202945.115. ISSN   1088-9051. PMC   5204334 . PMID   27965293. Therefore, Siberian admixtures into Northeastern Europe likely began prior to 6.6 kya, coinciding with the expansion of Y-Chromosome haplogroup N1c1 among Siberians and Northeastern Europeans (7.1–4.9 kya). Since haplogroup N likely originated in Asia (Shi et al. 2013) and currently achieves its highest frequency among Siberian populations, its presence among Eastern Europeans likely reflects ancient gene flows from Siberia into Northeastern Europe.
  11. Triska, Petr; Chekanov, Nikolay; Stepanov, Vadim; Khusnutdinova, Elza K.; Kumar, Ganesh Prasad Arun; Akhmetova, Vita; Babalyan, Konstantin; Boulygina, Eugenia; Kharkov, Vladimir; Gubina, Marina; Khidiyatova, Irina; Khitrinskaya, Irina; Khrameeva, Ekaterina E.; Khusainova, Rita; Konovalova, Natalia (2017-12-28). "Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe". BMC Genetics. 18 (1): 110. doi: 10.1186/s12863-017-0578-3 . ISSN   1471-2156. PMC   5751809 . PMID   29297395.
  12. Barbitoff, Yury A; Khmelkova, Darya N; Pomerantseva, Ekaterina A; Slepchenkov, Aleksandr V; Zubashenko, Nikita A; Mironova, Irina V; Kaimonov, Vladimir S; Polev, Dmitrii E; Tsay, Victoria V; Glotov, Andrey S; Aseev, Mikhail V; Shcherbak, Sergey G; Glotov, Oleg S; Isaev, Arthur A; Predeus, Alexander V (2024-09-14). "Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples". National Science Review. 11 (10). doi:10.1093/nsr/nwae326. ISSN   2095-5138. PMC   11533896 . PMID   39498263.
  13. Zhernakova, Daria V.; Brukhin, Vladimir; Malov, Sergey; Oleksyk, Taras K.; Koepfli, Klaus Peter; Zhuk, Anna; Dobrynin, Pavel; Kliver, Sergei; Cherkasov, Nikolay; Tamazian, Gaik; Rotkevich, Mikhail; Krasheninnikova, Ksenia; Evsyukov, Igor; Sidorov, Sviatoslav; Gorbunova, Anna (2020-01-01). "Genome-wide sequence analyses of ethnic populations across Russia". Genomics. 112 (1): 442–458. doi:10.1016/j.ygeno.2019.03.007. ISSN   0888-7543.
  14. Qin, Pengfei; Zhou, Ying; Lou, Haiyi; Lu, Dongsheng; Yang, Xiong; Wang, Yuchen; Jin, Li; Chung, Yeun-Jun; Xu, Shuhua (2015-04-02). "Quantitating and Dating Recent Gene Flow between European and East Asian Populations". Scientific Reports. 5 (1): 9500. doi: 10.1038/srep09500 . ISSN   2045-2322. PMC   4382708 . PMID   25833680. Northeast Asians such as Oroqen, Mongolian, Hezhen and Daur (nomads who historically lived alongside Russians and Caucasians) inherited significantly more alleles from EUR: Mongolian 10.9 ± 0.1%, Oroqen 9.6 ± 0.2%, Daur 8.0 ± 0.2% and Hezhen 6.8 ± 0.2%.
  15. Balanovsky, Oleg; Balanovskaya, Elena (2007). Генофонд русских на русской равнине[The Gene Pool of Russians on Russian plain] (in Russian). Moscow: Луч. pp. 297–298. ISBN   978-5-87140-267-2.