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Genetic studies on Turkish people

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Further information: Genetic history of Europe and Archaeogenetics of the Near East

In population genetics the question has been debated whether the modern Turkish population is significantly related to other Turkic peoples, or whether they are rather derived from indigenous populations of Anatolia which were culturally assimilated during the Middle Ages. The contribution of the Central Asian genetics to the modern Turkish people has been debated and become the subject of several studies. As a result, the studies of genetics on the people of Turkey have indicated that the modern Anatolian people are genetically influenced by indigenous (pre-Islamic) Anatolian populations as well as the contribution of their Central Asian roots.

Central Asian and Uralic connection

Neigbour-joining tree of European, Turkic central Asian and Turkish (Anatolian) populations constructed from HVS I sequences.[1]

The question to what extent a gene flow from Central Asia to Anatolia has contributed to the current gene pool of the Turkish people, and what the role is in this of the 11th century invasion by Oghuz Turks, has been the subject of several studies. A factor that makes it difficult to give reliable estimates, is the problem of distinguishing between the effects of different migratory episodes. Recent genetic research indicates that some the Turkic peoples originated from Central Asia and therefore are possibly related with Xiongnu.[2] A majority (89%) of the Xiongnu sequences can be classified as belonging to an Asian haplogroups and nearly 11% belong to European haplogroups. This finding indicates that the contacts between European and Asian populations were anterior to the Xiongnu culture, and it confirms results reported for two samples from an early 3rd century B.C. Scytho-Siberian population.[3]

According to the study, Turkish Anatolian tribes may have some ancestors who originated in an area north of Mongolia at the end of the Xiongnu period (3rd century BCE to the 2nd century CE), since modern Anatolian Turks appear to have some common genetic markers with the remains found at the Xiongnu period graves in Mongolia.[4] Moreover, the mtDNA (female linkeage) sequence shared by four of these paternal relatives were also found in Turkish individuals,[5] suggesting a possible Turkic origin of these ancient specimens.[2][6] According to another archeological and genetic study in 2010, the paternal Y-chromosome R1a, which is considered as an Indo-European marker, was found in three skeletons in 2000-year-old elite Xiongnu cemetery in Northeast Asia, which supports Kurgan expansion hypothesis for the Indo-European expansion from the Volga steppe region.[7] As the R1a was found in Xiongnu people[8] and the present-day people of Central Asia[9] A majority (89%) of the Xiongnu mtDNA sequences can be classified as belonging to Asian haplogroups, and nearly 11% belong to European haplogroups. This finding indicates that the contacts between European and Asian populations were anterior to the Xiongnu culture Well-preserved bodies in Xiongnu and pre-Xiongnu tombs in the Mongolian Republic and southern Siberia show both 'Mongoloid' and 'Caucasian' features[10] but are predominantly Mongoloid with some admixture of European physical stock, nonetheless the Xiongnu shared many cultural traits with their Indo-European neighbors, such as horse racing, sword worship.[11] Analysis of skeletal remains from sites attributed to the Xiongnu provides an identification of dolichocephalic Mongoloid, ethnically distinct from neighboring populations in present-day Mongolia.[12] Russian and Chinese anthropological and craniofacial studies show that the Xiongnu were physically very heterogenous, with six different population clusters showing different degrees of Mongoloid and Caucasoid physical traits. These clusters point to significant cross-regional migrations (both east to west and west to east) that likely started in the Neolithic period and continued to the medieval/Mongolian period.[13]

According to a different genetic research on 75 individuals from various parts of Turkey, Mergen et al revealed that genetic structure of the mtDNAs in the Turkish population bears similarities to Turkic Central Asian populations. The neighbour-joining tree built from segment I sequences for Turkish and the other populations (French, Bulgarian, British, Finland, Greek, German, Kazakhs, Uighurs and Kirghiz) indicated two poles. Turkic Central Asian populations, Turkish population and British population formed one pole, and European populations formed the other, which revealed Turkish population bears more similarities to Turkic Central Asian population and British people.[14]

Haplogroup distributions in Turkish people

According to Cinnioglu et al., (2004)[15] there are many Y-DNA haplogroups present in Turkey. The majority haplogroups are primarily shared with Middle Eastern, Caucasian, and European populations such as haplogroups E3b, G, J, I, R1a, R1b, K and T which form 78.5% from the Turkish Gene pool (without R1b, K, and which notably occur elsewhere, it is 59.3%) and contrast with a smaller share of haplogroups related to Central Asia (N and Q)- 5.7% (but it rises to 36% if K, R1a, R1b and L- which infrequently occur in Central Asia, but are notable in many other Western Turkic groups), India H, R2 - 1.5% and Africa A, E3*, E3a - 1%. Some of the percentages identified were:

Y chromosome Haplogroup distribution of Turkish people[15]
  • J2=24% - J2 (M172) Typical of populations of Caucasus, the Near East, Southeast Europe, Southwest Asia with a moderate distribution through much of Central Asia, South Asia, and North Africa.
  • R1b=14.7% -Typical of Western Europeans, Eurasian People, and typical of Uyghurs in the Central Asia [16][17]
  • G=10.9% - Typical of people from the Caucasus and to a lesser extent the Middle East.
  • E1b1b1=10.7% - Typical of people from the Mediterranean
  • J1=9% - Typical amongst people from the Arabian Peninsula and Dagestan (ranging from 3% from Turks around Konya to 12% in Kurds).
  • R1a=6.9% - Typical of Central Asian, Caucasus, Altaic people, Eastern Europeans and Indo-Aryan people.
  • I=5.3% - Typical of Central Europeans, Western Caucasian and Balkan populations.
  • K=4.5% - Typical of Asian populations and Caucasian populations.
  • L=4.2% - Typical of Indian Subcontinent and Khorasan populations.
  • N=3.8% - Typical of Uralic, Siberian and Altaic populations.
  • T=2.5% - Typical of Mediterranean, Northeast African and South Asian populations
  • Q=1.9% - Typical of Northern Altaic populations.

Further research on Turkish Y-DNA groups

Genetic affinities among Southeastern European and Central Asian populations[18]

A study from Turkey by Gokcumen (2008)[19][20] took into account oral histories and historical records. They went to four settlements in Central Anatolia and did not do a random selection from a group of university students like many other studies. Accordingly here are the results:

1) At an Afshar village whose oral stories tell they come from Central Asia they found that 57% come from haplogroup L, 13% from haplogroup Q, 3% from haplogroup N thus indicating that the L haplogroups in Turkey are of Central Asian heritage rather than Indian, although these Central Asians would have gotten the L markers from the Indians from the beginning. These Asian groups add up to 73% in this village. Furthermore 10% of these Afshars were E3a and E3b. Only 13% were J2a, the most common haplogroup in Turkey.

2) An older Turkish village center that did not receive much migration was about 25% N and 25% J2a with 3% G and close to 30% of some sort of R1 but mostly R1b.

In 2001, Benedetto et al revealed that Central Asian genetic contribution to the current Anatolian mtDNA gene pool was estimated as roughly 30%, by comparing the populations of Mediterranean Europe, and Turkic-speaking people of Central Asia. [21] In 2003, Cinnioğlu et al. made a research of Y-DNA including the samples from eight regions of Turkey, without classifying the ethnicity of the people, which indicated that high resolution SNP analysis totally provides evidence of a detectable weak signal (<9%) of gene flow from Central Asia.[22] In 2006, Berkman concluded that the true Central Asian contribution to Anatolia for both males and females were assumed to be 22%, with respect to the Balkans.[23] In 2011 Aram Yardumian and Theodore G. Schurr published their study "Who Are the Anatolian Turks? A Reappraisal of the Anthropological Genetic Evidence." They revealed the impossibility of long-term, and continuing genetic contacts between Anatolia and Siberia, and confirmed the presence of significant mitochondrial DNA and Y-chromosome divergence between this regions, with minimal admixture. The research confirms also the lack of mass migration and suggested that it was irregular punctuated migration events that engendered large-scale shifts in language and culture among Anatolia's diverse autochthonous inhabitants.[24] According to a 2012 study on ethnic Turks of Turkey, Hodoğlugil revealed that there is a significant overlap between Turks and Middle Easterners and a relationship with Europeans and South and Central Asians when Kyrgyz samples are genotyped and analysed. It displays a genetic ancestry for the Turks of 45% Middle Eastern, 40% European and 15% Central Asian. However, the Turkish genetic structure is unique, and there is an admixture of Turkish people reflecting the population migration patterns.[25]


Comparison of Turkish Genetics with Turkmen Genetics

Turks of Turkey speak an Oghuz dialect of Turkic languages. The other major Turkic groups speaking Oghuz include Azeri Turks of Azerbaijan and Iran as well as Turkmens of Turkmenistan.

Recent analysis by Hodoğlugil & Mahley (2012) has compared genetic samples from three Turkish locations, Aydin, Istanbul and Kayseri, with those of Krygyz genetic samples. Dienekes, within the context of the Dodecad project [5] , has compared autosomal genes of Turkish samples with those of Turkmen samples from the Yunusbayev study. [6]

This analysis divides genetic samples based on 10 regional genetic sources: Amerindian, West_Asian, Australasian, Palaeo_African, Neo_African, Siberian, Southern, East_Asian, Atlantic_Baltic, South_Asian

The results are as in the following for the Turkmenistan samples and samples from Turkey:

Genetic Source Turkmens from Turkmenistan Turks from Aydin Turks from Istanbul
Amerindian 1.5 0.1 0.3
West_Asian 45.7 37 47.9
Australasian 0.3 0.4 0.4
Palaeo_African 0 0 0
Neo_African 0 0.2 0
Siberian 7.6 8.1 3.5
Southern 16.2 24.5 24.7
East_Asian 6.7 4.4 3.7
Atlantic_Baltic 12.9 25.2 18.5
South_Asian 9.3 0 1

The results for Kayseri were similar to results for Istanbul. These results suggest that Turkmens of Turkmenistan are fundamentally West Asian genetically and similar to Turks of Turkey. Furthermore the Siberian genetic content in Turkmens and Turks of Turkey are comparable suggesting a significant Turkmen influx into Anatolia if indeed the source population of Turks of Turkey were Turkmens of Seljuqs. Interestingly enough Siberian genes in the Aydin region of Turkey is even higher than in Turkmenistan.


See also

References and notes

  1. ^ Mergen et al. Mitochondrial DNA sequence variation in the Anatolian Peninsula (Turkey), Journal of Genetics, Vol. 83, No.1, April 2004, P.46, Figure 4. http://www.ias.ac.in/jgenet/Vol83No1/39.pdf & http://www.ncbi.nlm.nih.gov/pubmed/15240908
  2. ^ a b Touchette, Nancy. "Ancient DNA Tells Tales from the Grave", Genome News Network.: "Skeletons from the most recent graves also contained DNA sequences similar to those in people from present-day Turkey, supporting the idea that some of the Turkish people originated in Mongolia. ... This supports other studies indicating that Turkic tribes originated at least in part in Mongolia at the end of the Xiongnu period."
  3. ^ Clisson, I.; Keyser, C.; Francfort, H. P.; Crubezy, E.; Samashev, Z.; Ludes, B. (2002). "Genetic analysis of human remains from a double inhumation in a frozen kurgan in Kazakhstan". International Journal of Legal Medicine. 116 (5): 304–308. doi:10.1007/s00414-002-0295-x. PMID 12376844.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ Henke, J.; Henke, L.; Chatthopadhyay, P.; Kayser, Manfred; Dülmer, M.; Cleef, S.; Pöche, H.; Felske-Zech, H. (2001). "Application of Y-chromosomal STR haplotypes to forensic genetics" (PDF). Croatian Medical Journal. 42 (3): 292–297. PMID 11387642.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Comas, M.C.; Sánchez-Gómez, M.; Cornen, G.; de Kaenel, E (1996). "Serpentinized peridotite breccia and olistostrome on basement highs of the Iberia Abyssal Plain: implications for tectonic margin evolution" (PDF). 149. doi:10.2973/odp.proc.sr.149.228.1996. {{cite journal}}: Cite journal requires |journal= (help); Unknown parameter |booktitle= ignored (help)CS1 maint: multiple names: authors list (link)
  6. ^ Martin Richards, Vincent Macaulay, Eileen Hickey, Emilce Vega, Bryan Sykes, Valentina Guida, Chiara Rengo, Daniele Sellitto, Fulvio Cruciani, Toomas Kivisild, Richard Villems, Mark Thomas, Serge Rychkov, Oksana Rychkov, Yuri Rychkov, Mukaddes Gölge, Dimitar Dimitrov, Emmeline Hill11, Dan Bradley, Valentino Romano, Francesco Calì, Giuseppe Vona, Andrew Demaine, Surinder Papiha, Costas Triantaphyllidis, Gheorghe Stefanescu, Jiři Hatina, Michele Belledi, Anna Di Rienzo, Andrea Novelletto, Ariella Oppenheim, Søren Nørby, Nadia Al-Zaheri, Silvana Santachiara-Benerecetti, Rosaria Scozzari, Antonio Torroni, and Hans-Jürgen Bandelt (2000). "Tracing European founder lineages in the Near Eastern mtDNA pool". American Journal of Human Genetics. 67 (5): 1251–1276. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: numeric names: authors list (link)
  7. ^ Kim et al. A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia, Am J Phys Anthropol. 2010 Jul;142(3):429-40, quoted pg.2 "The Kurgan expansion hypothesis explains the IndoEuropean expansion from the Volga steppe region (Gimbutas, 1973; Mallory, 1989).The paternal Y-chromosome single nucleotide polymorphisms (Y-SNP) R1a1 is considered as an Indo-European marker, supporting Kurgan expansion hypothesis (Zerjal et al., 1999; Kharkov et al., 2004; Haak et al., 2008). Recent finding of R1a1 in the Krasnoyarsk area east of Siberia marks the eastward expansion of the early Indo-Europeans (Keyser-Tracqui et al., 2009). R1a1 was not found in Scytho-Siberian skeletons from the Seby¨stei site of Altai Republic or in Xiongnu skeletons from Egyin Gol of Mongolia (KeyserTracqui et al., 2009)." quoted p.10: ", paternal, maternal, and biparental genetic analyses were done on three Xiongnu tombs of Northeast Mongolia 2,000 years ago. We showed for the first time that an Indo-European with paternal R1a1 and maternal U2e1 was present in the Xiongnu Empire of ancient Mongolia"
  8. ^ Kim et al. A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia, Am J Phys Anthropol. 2010 Jul;142(3):429-40
  9. ^ Xue et al. Male Demography in East Asia: A North–South Contrast in Human Population Expansion Times, Genetics. 2006April; 172(4): 2431–2439. doi: 10.1534/genetics.105.054270
  10. ^ The Great Empires of the Ancient World - Thomas Harrison - 2009 - 288 page
  11. ^ Ancient bronzes, ceramics, and seals: the Nasli M. Heeramaneck Collection of ancient Near Eastern, central Asiatic, and European art, gift of the Ahmanson Foundation[1]
  12. ^ Fu ren da xue (Beijing, China), S.V.D. Research Institute, Society of the Divine Word - 2003[2]
  13. ^ Tumen D., "Anthropology of Archaeological Populations from Northeast Asia[3]
  14. ^ Hatice Mergen et al. Mitochondrial DNA sequence variation in the Anatolian Peninsula (Turkey), Journal of Genetics, Vol. 83, No.1, April 2004, article p.46 and fig.4 Online Read or http://www.ncbi.nlm.nih.gov/pubmed/15240908
  15. ^ a b Excavating Y-chromosome haplotype strata in Anatolia. Hum Genet (2004) 114 : 127–148, Springer-Verlag 2003
  16. ^ Klyosov A.A. "The principal mystery in the relationship of Indo-European and Türkic linguistic families, and an attempt to solve it with the help of DNA genealogy: reflections of a non-linguist"//Proceedings of Russian Academy of DNA Genealogy (ISSN 1942-7484), Vol. 3, No 1, pp. 3 - 58
  17. ^ Y Haplogroups of the World Online Edition
  18. ^ Varzari et al. (2007) Population history of the Dniester-Carpathians: evidence from Alu markers. J Hum Genet. 2007;52(4):308-16. [4]
  19. ^ Gokcumen O. et al (2008), Ethnohistorical and genetic survey of four Central Anatolian settlements, a dissertation/thesis
  20. ^ Gokcumen O. Ethnohistorical and genetic survey of four central Anatolian settlements, dissertation, Univ. of Pennsylvania, 2008.
  21. ^ Online Reference Di Benedetto G, Ergüven A, Stenico M, Castrì L, Bertorelle G, Togan I, Barbujani G., DNA diversity and population admixture in Anatolia, Am J Phys Anthropol. 115(2):144-56, 2001. quoted: "The Turkic language was introduced in Anatolia at the start of this millennium, by nomadic Turkmen groups from Central Asia. Whether that cultural transition also had significant population-genetics consequences is not fully understood. Three nuclear microsatellite loci, the hypervariable region I of the mitochondrial genome, six microsatellite loci of the Y chromosome, and one Alu insertion (YAP) were amplified and typed in 118 individuals from four populations of Anatolia. For each locus, the number of chromosomes considered varied between 51-200. Genetic variation was large within samples, and much less so between them. The contribution of Central Asian genes to the current Anatolian gene pool was quantified using three different methods, considering for comparison populations of Mediterranean Europe, and Turkic-speaking populations of Central Asia. The most reliable estimates suggest roughly 30% Central Asian admixture for both mitochondrial and Y-chromosome loci. That (admittedly approximate) figure is compatible both with a substantial immigration accompanying the arrival of the Turkmen armies (which is not historically documented), and with continuous gene flow from Asia into Anatolia, at a rate of 1% for 40 generations. Because a military invasion is expected to more deeply affect the male gene pool, similar estimates of admixture for female- and male-transmitted traits are easier to reconcile with continuous migratory contacts between Anatolia and its Asian neighbors, perhaps facilitated by the disappearance of a linguistic barrier between them." [http://www.ncbi.nlm.nih.gov/pubmed/11385601 Online Reference
  22. ^ "Excavating Y-chromosome haplotype strata in Anatolia." Human Genetics 114:2 (January 2004): pages 127-148. First published electronically on October 29, 2003. 523
  23. ^ Ceren Berkman, Comparative Analyses for the Central Asian Contribution to Anatolian Gene Pool with Reference to Balkans, p.98, METU, Sep. 2006 quoted "Lower male than female contribution from Central Asia to Anatolia was obtained. The situation was explained by invoking the idea of homogenization between the males of the Balkans and Anatolia. Since females could not migrate alone, the true Central Asian contribution for both males and females were assumed to be 22%."
  24. ^ Yardumian A, Schurr TG. 2011. Who are the Anatolian Turks? A reappraisal of the anthropological genetic evidence. Archeol Anthropol Eurasia 50(1): 6-43 (Summer).
  25. ^ Uğur Hodoğlugil and Robert W. Mahley - Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations, Annals of Human Genetics, March 2012, Volume 76, Issue 2, pg. 128-141. Abstract "Turkey has experienced major population movements. Population structure and genetic relatedness of samples from three regions of Turkey, using over 500,000 SNP genotypes, were compared together with Human Genome Diversity Panel (HGDP) data. To obtain a more representative sampling from Central Asia, Kyrgyz samples (Bishkek, Kyrgyzstan) were genotyped and analysed. Principal component (PC) analysis reveals a significant overlap between Turks and Middle Easterners and a relationship with Europeans and South and Central Asians; however, the Turkish genetic structure is unique. FRAPPE, STRUCTURE, and phylogenetic analyses support the PC analysis depending upon the number of parental ancestry components chosen. For example, supervised STRUCTURE (K=3) illustrates a genetic ancestry for the Turks of 45% Middle Eastern (95% CI, 42-49), 40% European (95% CI, 36-44) and 15% Central Asian (95% CI, 13-16), whereas at K=4 the genetic ancestry of the Turks was 38% European (95% CI, 35-42), 35% Middle Eastern (95% CI, 33-38), 18% South Asian (95% CI, 16-19) and 9% Central Asian (95% CI, 7-11). PC analysis and FRAPPE/STRUCTURE results from three regions in Turkey (Aydin, Istanbul and Kayseri) were superimposed, without clear subpopulation structure, suggesting sample homogeneity. Thus, this study demonstrates admixture of Turkish people reflecting the population migration patterns."

http://en.wikipedia.org/wiki/Haplogroup_J2_%28Y-DNA%29

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