Chuvash Genetics: Abstracts and Summaries

by Kevin Alan Brook

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Genetic testing will reveal your relationships to other families, other populations from Russia, and other ethnic groups. Chuvash people are eligible to join the Chuvashia DNA Project administered by Dmitriy Ilyin and Iltimer Efremov as well as the Turkic World DNA Project.

The Chuvash live in east-central European part of the Russian Federation, including in their own republic known as Chuvashya or Chuvashiya. They speak a Turkic language that contains major differences from the Turkic languages of their neighbors and indeed of other Turkic peoples around the world. Over the years, Chuvash has been written in four different alphabets. Linguistic and ancestral connections have sometimes been postulated to exist between Chuvash and Khazar people but not substantiated. Others have suggested links between the Chuvash and the medieval Bulgar and Suvar people who lived in Volga Bulgharia.

The suggestion of a Bulgar-Chuvash genealogical relationship is compatible with the genetic evidence reported by Bayazit Yunusbayev, et al. in their article "The Genetic Legacy of the Expansion of Turkic-Speaking Nomads across Eurasia" where, after mentioning that some "remnants" from "the Onogur-Bolgar Empire (northern Black Sea steppes)" "migrated northward" after the empire "fell apart in the 7th century", they tell how "the [Turkic-related South Siberian/Mongolian] admixture signal for Chuvashes is close to the supposed arrival time of Oghur speakers in the Volga region."

Chuvash are not closely related to Ashkenazi Jews nor to the Bulgarians of modern Bulgaria. This is interesting in relation to other questions like "Are Ashkenazi Jews descended from the Turkic Khazars?" and "Are Bulgarians descended from the Turkic Bulgars?"

Fedorova's team learned that Chuvash have much less Mongoloid maternal ancestry than Bashkirs, Kazakhs, and Kyrgyzes. This makes sense to me since Chuvash look Caucasoid and have white skin.

A small proportion of Chuvash carry Y-DNA haplogroup Q1a-M25.

According to The ALlele FREquency Database, 5% of the 80 Chuvash people studied carry at least one T allele in the R151C (rs1805007) gene where TT usually causes red hair.

Major studies of Chuvashes

Ewen Callaway. "The rise of the genome bloggers." Nature 468 (2010): pages 880-881. Also published online on December 15, 2010.
      The chart called "MEET THE ANCESTORS" uses data from the Dodecad Ancestry Project to indicate that Chuvashes are largely Northern European with some Central Siberian ancestry and many other small elements.

Orion M. Graf, John Mitchell, Stephen Wilcox, Gregory Livshits, and Michael H. Crawford. "Chuvash origins: Evidence from mtDNA Markers." An abstract from a presentation at the April 14-17, 2010 meeting of the American Association of Physical Anthropologists (AAPA).

"A sample of 96 unrelated individuals from Chuvashia, Russia was sequenced for hypervariable region-I (HVR-I) of the mtDNA molecule. The Chuvash speak a Turkic language that is not mutually intelligible to other extant Turkish groups, and their genetics are distinct from Turkic-speaking Altaic groups. Some scholars have suggested that they are remnants of the Golden Horde, while others have advocated that they are the products of admixture between Turkic and Finno-Ugric speakers who came into contact during the 13th century. Earlier genetic research using autosomal DNA markers suggested a Finno-Ugric origin for the Chuvash. This study examines non-recombining DNA markers to better elucidate their origins. The majority of individuals in this sample exhibit haplogroups H (31%), U (22%), and K (11%), all representative of western and northern Europeans, but absent in Altaic or Mongolian populations. Multidimensional scaling (MDS) was used to examine distances between the Chuvash and 8 reference populations compiled from the literature. Mismatch analysis showed a unimodal distribution. Along with neutrality tests (Tajima's D (-1.43365) p < 0.05, Fu's FS (-25.50518) p < 0.001), the mismatch distribution is suggestive of an expanding population. These tests suggest that the Chuvash are not related to the Altai and Mongolia along their maternal line but supports the 'Elite' hypothesis that their language was imposed by a conquering group — leaving Chuvash mtDNA largely of Eurasian origin with a small amount of Central Asian gene flow. Their maternal markers appear to most closely resemble Finno-Ugric speakers rather than fellow Turkic speakers."

Graf et al.'s 2010 presentation is reiterated in: Orion M. Graf, Stephen M. Johnson, John Mitchell, Stephen Wilcox, Gregory Livshits, and Michael H. Crawford. "Analysis of Chuvash mtDNA points to Finno-Ugric origin." An abstract from a presentation to be held at the 81st Annual Meeting of the American Association of Physical Anthropologists in Portland, Oregon, April 11-14, 2012.
      Compared to the 2010 abstract, this 2012 abstract's text is essentially the same, with the same frequencies for the most common haplogroups and same conclusions about Chuvash ancestry, but there are a few noteworthy differences: a new scientist's name (Stephen M. Johnson) has been added, only 92 rather than 96 individuals are considered in the results this time, and the assertion that H, U, and K are "absent in Altaic or Mongolian populations" has transformed into "virtually absent in Altaic or Mongolian populations."

V. A. Spitsin, V. A. Batsevich, G. I. El'chinova, and E. D. Kobylianskiy. [Genetic position of Chuvashes in the system of Finno-Ugric and Turkic speaking peoples - title and article in Russian.] Genetika 45:9 (September 2009): pages 1270-1276. Abstract translated into English:

Serological and biochemical polymorphisms in marker genes of the AB0, MN, RH, FY, HP, TF, ACP1, PGM1, ESD, and GLO1 systems were studied in the combined sample of 369 individuals of Chuvash ethnicity from Morgaushskii, Mariinsko-Posadskii and Yadrinskii districts of the Chuvash Republic. We have compared our results with the data obtained in previous studies by other authors. A linear relationship has been established between genetic and geographical distances by examining 11 ethnoterritorial groups in Northeastern Europe and Western Siberia.

E. K. Khusnutdinova, T. V. Viktorova, V. L. Akhmetova, O. E. Mustafina, R. I. Fatkhlislamova, E. V. Balanovskaia, N. V. Petrova, S. V. Makarov, O. I. Kravchuk, G. V. Pay, and E. K. Ginter. [Population-genetic structure of Chuvashia (from data on eight DNA loci in the nuclear genome) - title and article in Russian.] Genetika 39:11 (November 2003): pages 1550-1563. Abstract translated into English:

"Population-genetic study of indigenous populations representing three ethnic Chuvash group: highland (Cheboksarsk and Morgaush district), lowland (Kanash district) and mid-lowland (Marposad district). Eight polymorphic DNA loci of the nuclear genome (VNTR/PAH, STR/PAH, VNTR/ApoB, VNTR/DAT1, APF, VNTR/eNOS, IVS6aGATT, and KM.19/PstI) were examined in the population of each district. For each of the four population, we estimated the allele and genotype frequency distributions at each polymorphic system, heterozygosities HS and between-population differences FST. In the combined Chuvash sample, HS = 0.464 and FST = 0.006. Loci VNTR(DAT) and VNTR(ApoB) showed highest between-population differentiation (0.009 < or = FST < or = 0.012), and loci IVS6aGATT, APF, VNTR/eNOS, and D7S23 (KM.19), lowest differentiation (0.001 < or = FST < or = 0.003). Analysis of genetic distances revealed somewhat higher genetic similarity between the Cheboksarsk and Morgaush populations belonging to the highland Chuvash group, whereas the highland Chuvash population from the Marposad district, which belong to the mid-lowland group, was more distant from the former populations."

M. A. Bermisheva, Kristiina Tambets, Richard Villems, and Elza K. Khusnutdinova. "[Diversity of mitochondrial DNA haplogroups in ethnic populations of the Volga-Ural region.]" Published in the Russian language. Molekuliarnaya biologiya 36:6 (November-December 2002): pages 990-1001.
      55 Chuvash people contributed mtDNA samples to this study. The most frequent haplogroup among them was H, found in 27.3% of them. Next most frequent are U4 at 16.4% and U5 at 14.5%. The others among them were HV0 (7.3%), K (7.3%), J (5.5%), T1 (3.6%), D (3.6%), and these which were found in one person each (each person being 1.8% of the study): A, C, I, M*, N1a, U*, U3, and U8. Haplogroups A and M are identified as being of East Eurasian origin. We also know that haplogroup C is common in North Asia.

Sardaana A. Fedorova, M. A. Bermisheva, Richard Villems, N. R. Maksimova, and Elza K. Khusnutdinova. "Analysis of Mitochondrial DNA Lineages in Yakuts." Molecular Biology 37:4 (2003): pages 544-553. Translated from the Russian edition of the article that was published in Molekulyarnaya Biologiya 37:4 (2003) on pages 643-653.
      Although this is a study primarily about the Yakuts (a Turkic-speaking group living further east of the Chuvash), Tables 2 and 3 include Chuvash mtDNA (maternal) haplogroup frequency distributions taken from 55 Chuvash samples. Table 3 (page 550) says the most common mtDNA haplogroup among the Chuvashes is U, found in 36.4% of those sampled. H was found in 25.5% and J was found in 5.5%. Less predominant are, in descending order, T (3.7%), D (3.6%), M* (1.8%), C (1.8%), and A (1.8%). Other haplogroups were found in 19.9% of the Bashkirs studied. Table 2's "Gene pool component" columns for Chuvashes reveal their racial mix to be 89.1% Caucasian, 9.1% Mongoloid, and 1.8% "Unidentified" (page 549). This point is repeated in the text:

"Generally, there is certainly a west-east cline in frequencies of race-specific haplotypes. The highest (89%) frequency of the Caucasian component [in our study] has been observed in the gene pools of Chuvash and Tatars [...]"

Antonio Arnaiz-Villena, Jorge Martinez-Laso, Juan Moscoso, Gregory Livshits, J. Zamora, E. Gomez-Casado, C. Silvera-Redondo, K. Melvin, and M. H. Crawford. "HLA genes in the Chuvashian population from European Russia: Admixture of central European and Mediterranean populations." Human Biology 75:3 (June 2003): pages 375-392.
      Chuvash are genetically close to Finns, Russians, and Danes but also have other origins. Abstract:

"HLA alleles have been determined for the first time in individuals from the Chuvashian population by DNA typing and sequencing. HLA-A, -B, -DR, and -DQ allele frequencies and extended haplotypes have also been determined, and the results compared to those for Central Europeans, Siberians and other Asians, Caucasians, Middle Easterners, and Mediterranean peoples. Genetic distances, neighbor-joining dendrograms, and correspondence analysis have been performed. Present-day Chuvash speak an Altaic-Turkic language and are genetically related to Caucasians (Georgians), Mediterraneans, and Middle Easterners, and not only to Central or Northern Europeans; Chuvash contain little indications of Central Asian-Altaic gene flow. Thus, present-day Chuvash who speak an Altaic-Turkic language are probably more closely related to ancient Mesopotamian-Hittites and northern European populations than to central Asia-Altaic people."

Garrett Hellenthal, George B. J. Busby, Gavin Band, James F. Wilson, Cristian Capelli, Daniel Falush, and Simon Myers. "A Genetic Atlas of Human Admixture History." Science 343:6172 (February 14, 2014): pages 747-751. Companion website.
      16 Chuvash samples were sourced from Behar et al. 2010. The researchers' GLOBETROTTER statistical tool confirmed that Chuvashes carry both "very ancient East Asian ancestry prior to 500BC, in the case of Russia at least, and a recent event, consistent with approximately Mongol-empire era admixture, together contributing [...] ~35% in the Chuvash." These are quotations from the website.

Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H. Sudmant, Joshua G. Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I. Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A. Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M. Bravi, Francesca Brisighelli, George B. J. Busby, Francesco Cali, Mikhail Churnosov, David E. C. Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A. Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M. Henn, Tor Hervig, Ugur Hodoglugil, Aashish R. Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W. Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B. Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A. Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G. Thomas, Andres Ruiz-Linares, Sarah A. Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan E. Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David E. Reich, and Johannes Krause. "Ancient human genomes suggest three ancestral populations for present-day Europeans." Nature 513 (September 18, 2014): pages 409-413.
      The authors present evidence of Siberian/Mongoloid admixture into Chuvashes in "Extended Data Figure 7: Evidence for Siberian gene flow into far north-eastern Europe", captioned:

"Some north-eastern European populations (Chuvash, Finnish, Russian, Mordovian, Saami) share more alleles with Han Chinese than with other Europeans who are arrayed in a cline from Stuttgart to Lithuanians/Estonians in a plot of f4(Test, BedouinB; Han, Mbuti) against f4(Test, BedouinB; MA1, Mbuti)."

T. A. Suslova, A. L. Burmistrova, M. S. Chernova, E. B. Khromova, E. I. Lupar, S. V. Timofeeva, I. V. Devald, M. N. Vavilov, and C. Darke. "HLA gene and haplotype frequencies in Russians, Bashkirs and Tatars, living in the Chelyabinsk Region (Russian South Urals)." International Journal of Immunogenetics 39:5 (October 2012): pages 394-408. First published electronically on April 20, 2012.
      This study confirms that Chuvashes, Volga Tatars, and Bulgarians all have medieval Volga Bulgar ancestors. The relevant sentence in the Abstract reads:

"[...] Some aspects of HLA in Tatars appeared close to Chuvashes and Bulgarians, thus supporting the view that Tatars may be descendents of ancient Bulgars."

N. V. Trofimova, S. S. Litvinov, R. I. Khusainova, V. L. Akhmetova, I. M. Khidiyatova, Richard Villems, and Elza K. Khusnutdinova. "Analysis of the Y-chromosome in the Volga-Ural region populations from Russia." A presentation being given at the European Society of Human Genetics (ESHG) Conference 2015 between June 6-9, 2015.
      This research included Chuvash samples.

Bayazit Yunusbayev, Mait Metspalu, Ene Metspalu, Albert Valeev, Sergei Litvinov, Ruslan Valiev, Vita Akhmetova, Elena Balanovska, Oleg Balanovsky, and Shahlo Turdikulova. "The Genetic Legacy of the Expansion of Turkic-Speaking Nomads across Eurasia." PLoS Genetics 11:4 (April 21, 2015): e1005068.
      19 Chuvash people participated in this autosomal DNA study. The Chuvash received their Turkic ancestry around the year 816, according to its admixture analysis in S4 Table. This ancestry stems from the region of South Siberia and Mongolia. They are also related to nearby non-Turkic peoples.

Excerpt from the Results:

"[...] In addition, the Volga-Uralic Turkic peoples (Chuvashes, Tatars, and Bashkirs) also displayed membership in the k5 cluster, which contained the Siberian Uralic-speaking populations (Nganasans and Nenets) and extended to some of the European Uralic speakers (Maris, Udmurts, and Komis). [...]"

Excerpt from the Discussion:

"[...] Chuvashes, the only extant Oghur speakers showed an older admixture date (9th century) than their Kipchak-speaking neighbors in the Volga region. According to historical sources, when the Onogur-Bolgar Empire (northern Black Sea steppes) fell apart in the 7th century, some of its remnants migrated northward along the right bank of the Volga river and established what later came to be known as Volga Bolgars, of which the first written knowledge appears in Muslim sources only around the end of the 9th century. Thus, the admixture signal for Chuvashes is close to the supposed arrival time of Oghur speakers in the Volga region. [...]"

Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, Csaba Barta, Ru-Band Lu, Olga V. Zhukova, Jong-Jin Kim, Marcello Siniscalco, Maria New, Hui Li, Sylvester L. B. Kajuna, Vangelis G. Manolopoulos, William C. Speed, Andrew J. Pakstis, Judith R. Kidd, and Kenneth K. Kidd. "A global view of the OCA2-HERC2 region and pigmentation." Human Genetics 131:5 (May 2012): pages 683-696. First published online on November 8, 2011.
      This study indicated that the C allele of the OCA2 gene causes lighter skin but is different from the key light skin varieties that most Europeans possess.

"Our data confirm that the putative light skin allele of rs1800414 (C) is found almost exclusively in East and Southeast Asia, at frequencies ranging from 0 to 76% (Fig. 4) at higher levels in eastern East Asia (62-76.1%) compared with Southeast Asia (0-54.3%) and Western China (15.5-37.5%). Outside of East and Southeast Asia, the C allele is only found in low frequencies in the Adygei, Chuvash, and Hungarians in Europe (>1-3.6%), the Yakut in Siberia (8.8%), and the Micronesians in the Pacific Islands (4.2%)."

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