Kazakh Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
DNA testing will show how you're connected to other families and ethnic groups. The database includes members of populations from Central Asia, East Asia, Eastern Europe, and other regions. Once you've submitted your DNA sample, you'll be eligible to join the "Kazakhstan DNA Project" run by Yerlan Turesbekov if you belong to Kazakh tribes maternally and/or paternally. There's also a separate "Kazakhstan Shejire DNA Project" administered by Baimukhan Nurbol and Gabit Baimbet. Many Kazakhs participate in the "Turkic World DNA Project".

Kazakhs (Qazaqs, Kazaks) are a Turkic-speaking people living in several modern countries including (but not limited to) Kazakhstan, China, and Mongolia. They are approximately 70% Mongoloid and 30% Caucasoid and this admixture explains why some Kazakhs have light European physical features in contrast to the majority who have black hair, brown eyes, and epicanthic eyefolds. They have many different kinds of ancestors including various Turkic tribes (Kipchaks, Khazars, Qarluqs, and Argyns), Turko-Mongol groups (including Alshyn, Dughlat, Jalayir, Kerait, Kiyat, Manghud, Naimans, Nogais, and Onggirat), and other Central Asian peoples like Huns and Iranian peoples.

The Kazakh language, currently written in a Cyrillic script but formerly written with Latin and Arabic characters, is part of the Kipchak (Central) division of the Turkic linguistic family.

The Kazakhstan DNA Project's Y-chromosome records show that among its male members are the Y-DNA haplogroups C3, C3*, C3c, G, O3a3c, O2, Q1a3, E1b1b1, N1c1, R1a1, R1b1b1, R2, J2a1, J2a, and J2. C3 (M217, P44) is not only common among Kazakhs but also frequent in Mongolia. Members of the Kypshak tribe were found to be in O3a3c and R1b1b1. Members of the Argyn (= Basmal, meaning "mixed tribe") tribe have the G haplogroup which apparently came to them from the southwest. Kazakhs carrying J2 probably got it from peoples of the northern part of West Asia such as from Persians. The Kozha (Qozha, Khoja) are a sub-group of Kazakhs who descend from Arabs, and in this project members were found to belong to the haplogroups E1b1b1 (common in the Middle East) and Q1a3. Q probably came to the Kazakhs from their Turkic-speaking ancestors. R1a1 (and its subtypes) is very common among the Slavs of eastern Europe and among the Kyrgyzes and also found in other regions such as eastern Siberia and South Asia.

In terms of maternal DNA (mtDNA), 55% of Kazakh mtDNA haplogroups come from East Eurasia, while 41% come from West Eurasia.

A fully Kazakh person from Kazakhstan has one copy of the red hair allele T for the gene rs1805007 according to her 23andMe results.

The Madjars are related to the Magyars of Hungary.

Major studies of Kazakhs

Ayken Askapuli, Miguel Vilar, Humberto Garcia-Ortiz, Maxat Zhabagin, Zhaxylyk Sabitov, Ainur Akilzhanova, Erlan Ramanculov, Uli Schamiloglu, Angelica Martinez-Hernandez, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Theodore G. Schurr, Zhaxybay Zhumadilov, Marlen Flores-Huacuja, Lorena Orozco, John Hawks, and Naruya Saitou. "Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia." PLoS ONE 17:11 (November 29, 2022): e0277771.
       They studied 200 Kazakh mtDNA sequences, including whole sequences from 120 of them, "all living in the Jetisuu region of southern Kazakhstan" which includes Almati and Jambil oblasts. Their most prevalent mtDNA haplogroups are C4, D4, F1, G2, H2, T2, and U5, followed by A5, B4, C5, D5, N9, and U2. They note that "Only B4, D4, G2, H2, and U5 mtDNAs were found in all four Jetisuu Kazak populations." They think that haplogroup A was a founding lineage for Kazakhs because of its "diverse branching pattern" among them. In addition to A5, Kazakhs from Jetisuu were found to carry A12 and A14. It is said that "N9a mtDNAs are present in Turko-Mongolian speakers (e.g., N9a1, N9a3, N9a8, and N9a9) and occur at a considerably high frequency (2.5%) in Jetisuu Kazaks," and, as shown on Supplementary Table 2, Kazakh varieties of N9 in Jetisuu include N9a1, N9a2, and N9a3. One of the Kazakhs in Jetisuu whom they sequenced belongs to D4m and in the body text they indicate that this person is in the D4m3 branch. H and U are identified as West Eurasian haplogroup families.

Galina M. Berezina, Gulnara S. Svyatova, and Zhanar Makhmutova. "The analysis of the genetic structure of the Kazakh population as estimated from mitochondrial DNA polymorphism." Medical and Health Science Journal (MHSJ) 6 (2011): pages 2-6.
      304 Kazakhs had their mitochondrial DNA tested.

Excerpts from the abstract:

"[...] The analysis shows that Western Europe (55%) and Eastern Europe (41%) mtDNA lineages exist in the Kazakhs population. A high genetic diversity was observed in the Kazakhs population (h=0.996). [...] It is noted a high degree of intensity of gene exchange between the Kazakh population and frontier populations of Russia on the North-West, North, Northeast and East of Kazakhstan."

Excerpts from page 4:

"We have studied the relation between East Eurasian and West Eurasian lines in the gene pool of the Kazakhs using the data on polymorphism HVSI of mtDNA (frequencies of haplogroups). It was found out that the main contribution of East Eurasian lines (55% of the total gene pool) to the modern gene pool of mtDNA of the Kazakhs make haplogroups D, C, G and Z (36.2%), A and F (6.9%) and other haplogroups of Asian origin (11.9%). West Eurasian lines (41% of the total gene pool) in the Kazakh gene pool are most frequently represented by the haplogroups H (14.1%), K (2.6%), J (3.6%), T (5.5%), U5 (3%) and others (12.2%) (Figure 2)."

M. Bermisheva, Elza K. Khusnutdinova, A. Z. Salimova, Gulnara S. Svyatova, Galina M. Berezina, and Richard Villems. "Mitochondrial DNA variability in Kazakhs." Poster presentation #179 in HGM2002 Poster Abstracts: 4. Functional Genomics from HUGO's 7th International Human Genome Meeting, Shanghai, China, April 14-17, 2002.
      This includes mtDNA data from 109 Kazakhs. Excerpts from the summary:

"[...] We found that more than 64% of mtDNA lineages belong to Asian-specific haplogroups (M, C, Z, D, G, A, B, F, N9). Supercluster M was found with most high frequency (45%). Western-Eurasian specific haplogroups were observed in 35% (H, V, HV, J, T, U1, U2, U4, U5, U7, K, W, X). [...] the lineage of Hg U7, typical for all Levant, including Iran, was revealed in Kazakhs. [...] East Asian hgs - A, B, F, N9 - make up about 18% in Kasakhs, like in all Central Asian populations, Altaics, Tuvinians and Bashkirs. [...] The area of Kazakhstan has been a place of interaction of many ethnic layers during a historically long period. Mongolian tribes, Turkic-speaking populations from Siberia and Altai, Indo-Iranians from Near East, and Slavs from Eastern Europe took part in the formation of Kazakhs. Thus, it is possible to explain a high level of genetic variability of mtDNA by a complicated ethnic history of the given people. [...]"

Y. G. Yao, Q. P. Kong, C. Y. Wang, C. L. Zhu, and Y. P. Zhang. "Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China." Molecular Biology and Evolution 21:12 (December 2004): pages 2265-2280. First published online on August 18, 2004.
      While those Kazak people who reside in China are mostly Mongoloid, just like Kazakhs in Kazakhstan, this study showed that 30.2% of their ancestry is western Eurasian.

Ömer Gokcumen, Matthew C. Dulik, Athma A. Pai, Sergey I. Zhadanov, Samara Rubinstein, Ludmila P. Osipova, Oleg V. Andreenkov, Ludmila E. Tabikhanova, Marina A. Gubina, Damian Labuda, and T. G. Schurr. "Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history." American Journal of Physical Anthropology 136(3) (July 2008): pages 278-293.
      The mtDNA haplogroup N1a was found in some Altaian Kazakhs but not in other Kazakh groups, nor in neighboring tribes.

Excerpts from the Abstract:

"The Altaian Kazakhs, a Turkic speaking group, now reside in the southern part of the Altai Republic in south-central Russia. According to historical accounts, they are one of several ethnic and geographical subdivisions of the Kazakh nomadic group that migrated from China and Western Mongolia into the Altai region during the 19th Century. [...] To begin elucidating their genetic history, we analyzed the mtDNAs from 237 Altaian Kazakhs [...] This analysis revealed that their mtDNA gene pool was comprised of roughly equal proportions of East (A-G, M7, M13, Y and Z) and West (H, HV, pre-HV, R, IK, JT, X, U) Eurasian haplogroups, with the haplotypic diversity within haplogroups C, D, H, and U being particularly high. This pattern of diversity likely reflects the complex interactions of the Kazakhs with other Turkic groups, Mongolians, and indigenous Altaians. [...]"

Excerpt from the body of the paper:

"In this study, we also find that all Turkic and Mongolic groups possess a common set of maternal haplogroups (C, D, G2a, H) [...]"

Miroslava V. Derenko, Boris Abramovich Malyarchuk, Galina A. Denisova, Maria A. Perkova, Urszula Rogalla, Tomasz Grzybowski, Elza K. Khusnutdinova, Irina Dambueva, and Ilia Zakharov. "Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe." PLoS ONE 7(2) (February 21, 2012): e32179.
      This is another study that specifically tested Altaian Kazakhs. Excerpts from the Abstract:

"With the aim of uncovering all of the most basal variation in the northern Asian mitochondrial DNA (mtDNA) haplogroups, we have analyzed mtDNA control region and coding region sequence variation in 98 Altaian Kazakhs from southern Siberia and 149 Barghuts from Inner Mongolia, China. Both populations exhibit the prevalence of eastern Eurasian lineages accounting for 91.9% in Barghuts and 60.2% in Altaian Kazakhs. The strong affinity of Altaian Kazakhs and populations of northern and central Asia has been revealed, reflecting both influences of central Asian inhabitants and essential genetic interaction with the Altai region indigenous populations."

Matthew C. Dulik, Ludmila P. Osipova, and Theodore G. Schurr. "Y-Chromosome Variation in Altaian Kazakhs Reveals a Common Paternal Gene Pool for Kazakhs and the Influence of Mongolian Expansions." PLoS One 6:3 (March 11, 2011): e17548.
      Y-chromosomes were sampled from Kazakhs living in southwestern and southeastern areas of the Altai Republic in Russia and compared to Kazakhs from the nation of Kazakhstan. The overall results confirmed that Kazakhs of Altai, like Kazakhs elsewhere, descend from both Mongoloid and Caucasoid peoples. Based on mtDNA patterns, the Kazakhs of Altai may have admixed with local Russian women. The predominant Y-DNA haplogroups of the Kazakhs of Altai, C3*, C3c and O3, "were likely contributed by Altaic peoples moving westward from their homeland, presumably in southern Siberia or Mongolia." Excerpts from the Abstract:

"[...] We noted distinct differences in the patterns of genetic variation between maternal and paternal genetic systems in the Altaian Kazakhs. While they possess a variety of East and West Eurasian mtDNA haplogroups, only three East Eurasian paternal haplogroups appear at significant frequencies (C3*, C3c and O3a3c*). In addition, the Y-STR data revealed low genetic diversity within these lineages. Analysis of the combined biallelic and STR data also demonstrated genetic differences among Kazakh populations from across Central Asia. The observed differences between Altaian Kazakhs and indigenous Kazakhs were not the result of admixture between Altaian Kazakhs and indigenous Altaians. Overall, the shared paternal ancestry of Kazakhs differentiates them from other Central Asian populations. In addition, all of them showed evidence of genetic influence by the 13th century CE Mongol Empire. [...]"

A. Z. Salimova, Ildus A. Kutuev, R. I. Khusainova, V. L. Akhmetova, Gulnara S. Svyatova, Galina M. Berezina, and Elza K. Khusnutdinova. [Analysis of ethnogeographic groups of Kazakhs based on nuclear genome DNA polymorphism - title and article in Russian]. Genetika 41(7) (July 2005): pages 973-980. Abstract:

"Eight nuclear DNA loci, including six Alu insertions (ACE, APOA1, PV92, TPA25, Ya5NBC27, and Ya5NBC148), 32-bp deletion in the CCR5 gene, and VNTR locus at the eNOS gene, were examined in three ethnogeographic groups of Kazakhs (342 individuals). The individuals examined lived in southeastern, central, and southwestern regions of Kazakhstan, and according to their tribal attribution, belonged to the Senior, Middle, and Junior Zhuzes. The Alu insertions appeared to be polymorphic in all populations examined: the insertion frequency varied from 0.264 in the populations of the Senior and Middle Zhuzes at the Ya5NBC27 and Ya5NBC148 loci, to 0.827 in Kazakhs of the Middle Zhuz at the APOA1 locus. In Kazakh groups examined only two alleles of the eNOS VNTR locus were detected with the number of repeats constituting four (A) and five (B) copies. The highest frequency of A allele was found in Kazakhs from the Junior Zhuz (0.113), while the highest frequency of B allele was detected in population of the Senior Zhuz (0.893). The frequency of the 32-bp deletion in the chemokine receptor CCR5 gene varied from 0.027 in the Junior Zhuz to 0.045 in the Senior Zhuz. Kazakhs showed high genetic diversity (Hex = 0.376). In general, in three ethnogeographic groups of Kazakhs, the coefficient of gene differentiation (G(ST)) over eight diallelic markers of nuclear genome constituted 1.1%. The differences in the Alu insertions made the highest contribution to the among-population diversity (G(ST) = 1.2%)."

Yoshihiko Katsuyama, Hidetoshi Inoko, Tadashi Imanishi, Nobuhisa Mizuki, Takashi Gojobori, and Masao Ota. "Genetic Relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian Populations Based on Allelic Frequencies at Four VNTR (D1S80, D4S43, COL2A1, D17S5) and One STR (ACTBP2) Loci." Human Heredity 48 (1998): pages 126-137. Excerpts from the Abstract:

"The genetic polymorphism at four variable number of tandem repeats (D1S80, D4S43, COL2A1, D17S5) and one short tandem repeat (ACTBP2) loci was assessed by polymerase chain reaction analysis of genomic DNA obtained from blood samples of eight human populations (Japanese, Northern Han, Hui, Uygur, Kazakh, Saudi Arabian, Greek, Italian). [...] A dendrogram constructed by the neighbor-joining method based on the allele frequencies of the five loci suggested that the five Asian populations (Japanese, Northern Han, Hui, Uygur, and Kazakh) formed one cluster, whereas the two European populations and one West Asian population (Italian, Greek, and Saudi Arabian) formed another. The genetic relationship among these populations may have been greatly influenced by admixture as a result of the migration of individuals along the Silk Road throughout history."

I. Nasidze, D. Quinque, I. Dupanloup, R. Cordaux, L. Kokshunova, and Mark Stoneking. "Genetic evidence for the Mongolian ancestry of Kalmyks." American Journal of Physical Anthropology 128:4 (December 2005): pages 846-854. (mirror)
      This includes Kazakh samples. 55 mtDNA HV1 sequences were collected from Kazakhs, and 45 different haplotypes were found among them. Y-SNP data was collected from 54 Kazakh males. Table 4 lists the Y-DNA haplogroups found among these Kazakhs: 2% had E* YAP, 9% had C* RPS4Y, 57% had C3c M48, 11% had K* M9, 2% had N3* M46, 2% had P1 M124, 6% had P* M45, 6% had R1* M173, 4% had R1a1* M17, and 2% had F* M89, and their haplotype diversity was 0.653. Excerpts:

"An MDS plot (Fig. 2A) based on the individual pairwise Fst values further confirms these observations: the Kalmyks cluster with Mongolians, Kazakh, Kyrgiz, Buryats, and some other Central and East Asian populations. [...] Haplogroup C3c occurs at appreciable frequencies only in Mongolians and Kazakhs [...] The MDS plot (Fig. 2B) similarly groups Kalmyks with Mongolians, with Kazakhs as the next most similar group. [...] The mtDNA and Y-chromosome results are also consistent in indicating some degree of genetic similarity between Kazakhs and Kalmyks. [...] Indeed, despite the fact that Kazakhs speak a Turkic language, there are many Mongolian loan words in Kazakh (L. Johanson, personal communication), although further work is needed to demonstrate a specifically Kalmykian origin of these loan words."

Serikbai Abilev, Boris Abramovich Malyarchuk, Miroslava V. Derenko, Marcin Woźniak, Tomasz Grzybowski, and Ilya Zakharov. "The Y-chromosome C3* star-cluster attributed to Genghis Khan's descendants is present at high frequency in the Kerey clan from Kazakhstan." Human Biology 84:1 (2012): Article 4. Abstract:

"In order to verify the possibility that the Y-chromosome C3* star-cluster attributed to Genghis Khan and his patrilineal descendants is relatively frequent in the Kereys, who are the dominant clan in Kazakhstan and in Central Asia as a whole, polymorphism of the Y-chromosome was studied in Kazakhs, represented mostly by members of the Kerey clan. The Kereys showed the highest frequency (76.5%) of individuals carrying the Y-chromosome variant known as C3* star-cluster ascribed to the descendants of Genghis Khan. C3* star-cluster haplotypes were found in two sub-clans, Abakh-Kereys and Ashmaily-Kereys, diverged about 20-22 generations ago according to the historical data. Median network of the Kerey star-cluster haplotypes at 17 STR loci displays a bipartite structure, with two subclusters defined by the only difference at DYS448 locus. It is noteworthy that there is a strong correspondence of these subclusters with the Kerey sub-clans affiliation. The data obtained suggest that the Kerey clan appears to be the largest known clan in the world descending from a common Y-chromosome ancestor. Possible ways of Genghis Khan's relation to the Kereys are discussed."

Maxat Zhabagin, Z. Sabitov, I. Tazhigulova, P. Tarlykov, Y. Yusupov, K. Dibirova, P. Nymadawa, E. Balanovska, I. Zakharov, and O. Balanovsky. "The gene pool of Argyn in the context of generic structure of Kazakhs according to data on SNP-Y-Chromosome markers." A presentation to be given at European Society of Human Genetics Conference 2013.
      287 men who belong to the Kazakh tribe known as the Argyn were genetically tested on their Y-chromosome and compared with 14 other tribes of Kazakhs and 12 tribes of Mongolians, for a total of 2186 samples. Excerpts from the Abstract:

"[...] In the tribe of Argyn, twenty haplogroups were identified, among which there were one major haplogroups - G1a - P20 (71%) and three minor haplogroups R1a* - M198(xM458) (6%), C3c - M48 (5%) and C3* - M217(xM48) (3%). Other haplogroups represent less than three percent. [...] Tribe Argyn took on graph an isolated position, demonstrating the absence of genetic links with other Kazakh tribes. [...]"

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.
      The dataset for this autosomal DNA study includes samples from 20 Kazakhs. The Kazakhs historically stayed relatively close to the region of Southern Siberia and Mongolia (SSM) where common Turkic ancestry originates from. As a result, their identical-by-descent (IBD) segments shared with people from that region tend to be longer than is the case for Turkic-speaking peoples who moved much further away. According to Figure 5, they got admixture from the SSM region in the 13th-14th centuries. This relatively recent admixture "postdate[s] the presumed migrations of the ancestral Kipchak Turks from the Irtysh and Ob regions in the 11th century".

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