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Genetic studies on Russians

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European genetic structure (based on SNPs) PC analysis

Genetic studies show that Russians are relatively closest to Finns and Estonians, followed by Poles, Belarusians, Ukrainians and other Slavs as well as Latvians and Lithuanians.[1] Russians display quite significant genetic heterogenity, evidence for multiple genetic ancestries and admixture events, including European and East Asian sources, and high identity-by-descent sharing with the Finnish people.[2]

Y-DNA chromosomes

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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

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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

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Using the clustering algorithm implemented in ADMIXTURE, ancestral genetic components in Balto-Slavic populations were modeled.[5]

Autosomally, Russians are most similar to populations in Eastern Europe, especially Finns, followed by other Eurasian groups.[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 ~12–13% among Russians. 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]

See also

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References

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  1. ^ a b c 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. ^ a b c d 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. ^ a b 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. ^ a b 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%.
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