http://www.khazaria.com/genetics/anatolian-turks.html
Genetic studies tell us that the Anatolian Turks (those Turks who live in the Republic of Turkey) are a mix of West Asian, Central Asian, and Northeast Asian ancestral elements, but primarily West Asian. This means most Turks have deep roots in Turkey and are descended from peoples like the Armenians and the Hittites who once lived in large numbers in that land. Some "Turks" in Turkey also have recent ancestry from the Balkans (e.g., Albanians, Bosnians) and Caucasus (e.g., Circassians) but have fully assimilated into Turkish culture. Some "Turks" have some recent Jewish (Israelite) ancestors.
Mustafa Kemal Atatürk (1881-1938), the founder of the modern nation of Turkey, emphasized a unified "Turkish" identity. The modern Turkish language was purged of many Arabic and Persian words that had existed in the Ottoman Turkish language. The remaining elements of Turkish are largely related to other Turkic languages like Azeri and Turkmen.
The Seljuk Turks had begun to invade eastern, and then central, Anatolia in the second half of the 11th century, and by the 12th century Anatolia was called "Turchia" in some chronicles.
Combined results from multiple studies show the following Y-DNA haplogroup distributions among Anatolian Turks:
E1b1b = 11%
G = 11%
I1 = 1%
I2* + I2a = 4%
I2b = 0.5%
J2 = 24%
J* + J1 = 9%
N = 4%
Q = 2%
R1a = 7.5%
R1b = 16%
T = 2.5%
Major studies of Anatolian Turks
Ugur Hodoglugil and Robert W. Mahley. "Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations." Annals of Human Genetics 76:2 (March 2012): pages 128-141. First published online on February 15, 2012. 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."
Cengiz Cinnioglu, R. King, Toomas Kivisild, E. Kalfoglu, S. Atasoy, G. L. Cavalleri, A. S. Lillie, C. C. Roseman, A. A. Lin, K. Prince, P. J. Oefner, P. Shen, Ornella Semino, Luigi Luca Cavalli-Sforza, and Peter A. Underhill. "Excavating Y-chromosome haplotype strata in Anatolia." Human Genetics 114:2 (January 2004): pages 127-148. First published electronically on October 29, 2003. 523 Turkish men had their Y-DNA sampled here on 89 biallelic polymorphisms. This group possessed a total of 52 different haplotypes. Excerpts from the Abstract:
"The major components (haplogroups E3b, G, J, I, L, N, K2, and R1; 94.1%) are shared with European and neighboring Near Eastern populations and contrast with only a minor share of haplogroups related to Central Asian (C, Q and O; 3.4%), Indian (H, R2; 1.5%) and African (A, E3*, E3a; 1%) affinity. [...] high resolution SNP analysis provides evidence of a detectable yet weak signal (<9%) of recent paternal gene flow from Central Asia. The variety of Turkish haplotypes is witness to Turkey being both an important source and recipient of gene flow."
Below are Y-DNA haplogroups Cinnioglu's team found among Anatolian Turks:
E1b1b1 = 10.7% (common in the Mediterranean region)
G = 10.9% (common in the Caucasus, also found in the Middle East)
I = 5.3% (common in Central Europe, the Western Caucasus, and the Balkans)
J1 = 9% (common in Arabia and Daghestan)
J2 = 24% (common in Western Asia and Southeastern Europe and also found in Central and South Asia)
K = 4.5% (common in Asia and the Caucasus)
L = 4.2% (common in India and Khorasan)
N = 3.8% (common in Eastern Europe and North Asia, including Siberia [e.g. Turkic-speaking Yakuts], the Altai Mountains region, and the Ural Mountains region - the article however did not consider N to come to Turkey's Turks from North Asia)
Q = 1.9% (common in North Asia including Northern Altaic peoples)
R1a = 6.9% (common in Central Asia, the Caucasus, Eastern Europe, and among Indo-Aryans)
R1b = 14.7% (common in Western Europe)
T = 2.5% (common in the Mediterranean, South Asia, and Northeastern Africa)
Ceren Caner Berkman, Havva Dinc, Ceran Sekeryapan, and Inci Togan. "Alu insertion polymorphisms and an assessment of the genetic contribution of Central Asia to Anatolia with respect to the Balkans." American Journal of Physical Anthropology 136:1 (May 2008): pages 11-18. Excerpts from the Abstract:
"In the evolutionary history of modern humans, Anatolia acted as a bridge between the Caucasus, the Near East, and Europe. Because of its geographical location, Anatolia was subject to migrations from multiple different regions throughout time. The last, well-known migration was the movement of Turkic speaking, nomadic groups from Central Asia. They invaded Anatolia and then the language of the region was gradually replaced by the Turkic language. In the present study, insertion frequencies of 10 Alu loci [...] have been determined in the Anatolian population. Together with the data compiled from other databases, the similarity of the Anatolian population to that of the Balkans and Central Asia has been visualized by multidimensional scaling method. Analysis suggested that, genetically, Anatolia is more closely related with the Balkan populations than to the Central Asian populations. Central Asian contribution to Anatolia with respect to the Balkans was quantified with an admixture analysis. Furthermore, the association between the Central Asian contribution and the language replacement episode was examined by comparative analysis of the Central Asian contribution to Anatolia, Azerbaijan (another Turkic speaking country) and their neighbors. In the present study, the Central Asian contribution to Anatolia was estimated as 13%. This was the lowest value among the populations analyzed. [...]"
Inci Togan and her team presented the paper "An Anatolian Trilogy: Arrival of nomadic Turks with their sheep and shepherd dogs" at the 4th International Symposium on Biomolecular Archaeology, Copenhagen, Denmark, September 7-11, 2010. Their research utilized both mitochondrial DNA (mtDNA) and Y-chromosome DNA results from Anatolian Turks. This paper repeated their finding that about 13% of the lineages stemmed from Central Asia: "Central Asian genetic contribution to Anatolia with respect to the Balkans was estimated as 13% by an admixture analysis implemented in LEA. This estimate was obtained by employing nuclear genetic markers. MtDNA and Y-chromosome estimates confirmed this admixture proportion." They go on to say "Based on the population size estimation for Anatolia in 12th century, it can be calculated that at least 1.5 million nomads might have arrived to Anatolia. History tells us that they have arrived to Central and Eastern Anatolia first and only 150 years later they invaded Western Anatolia. Distributions of genetic diversity of domestic sheep and shepherd dogs in Turkey support that as well the language spoken in Anatolia these nomads have changed the genetic landscape of these two domestic species within Turkey."
Aram Yardumian and Theodore G. Schurr. "Who Are the Anatolian Turks? A Reappraisal of the Anthropological Genetic Evidence." Anthropology and Archeology of Eurasia 50:1 (Summer 2011): pages 6-43. There weren't mass migrations from Siberia to Anatolia. Abstract:
"Due to its long-term geographic position as gateway between Europe and Asia, the genetic constitution of Anatolia is highly complex. In spite of its overwhelming diversity, most citizens of the Republic of Turkey are first language Turkish-speakers and consider themselves ethnic Turks. This was not the case during the early Middle Ages and the time of the Byzantine Empire. Although we are able to identify four successive Turkic empires, Islamicization, and post-World War I nationalization as the essential steps toward ethnic homogenization, from historical texts alone we cannot determine to what extent mass migration from Central Asia and Siberia is responsible for Turkish dominance in Anatolia today. To assess the extent of gene flow from lands east of the Caspian, we examined the patterns of genetic variation in Turkic-speaking populations from Anatolia to Siberia. This analysis allows us to build the case for incommensurable, long-term, and continuing genetic signatures in both Anatolia and Siberia, and for significant mitochondrial DNA and Y-chromosome divergence between the regions, with minimal admixture. We supplement the case against mass migration with correlative archeological, historical, and linguistic data, and suggest that it was irregular punctuated migration events that engendered large-scale shifts in language and culture among Anatolia's diverse autochthonous inhabitants."
Omer Gokcumen. "Ethnohistorical and genetic survey of four central Anatolian settlements." (mirror). A Ph.D. dissertation presented to the University of Pennsylvania in 2008. Gokcumen included samples from men in an old Turkish village center; about 25% of them had the Y-DNA haplogroup N, about 25% had J2a, about 3% had G, and about 30% had subhaplogroups within R1, primarily R1b. The Afshar people were also among those tested by Gokcumen; they are not the typical Anatolian Turks but do speak a Turkic language. Afshars live not only in Turkey but also Syria, Afghanistan, and Iran. Gokcumen studied Afshars from Turkey. In an Afshar village in Turkey where the inhabitants had an oral tradition of descent from Central Asians 57% of their Y-DNA belonged to haplogroup L, 13% to haplogroup Q, and 3% to haplogroup N, confirming Central Asian heritage, for a grand total of 73% of Central Asian paternal ancestry. (Though it is believed that haplogroup N came to Central Asians from India.) 10% of these Afshars belonged to haplogroups E3a and E3b, and 13% belonged to J2a (lower than the average among Anatolian Turks). Abstract:
"This study investigates the genetic diversity and ethnohistory of four Central Anatolian settlements from a local perspective to better understand the complex population history of Anatolia. The objectives of this project are to (1) document the biological and cultural diversity in contemporary settlements in the Yuksekyer region, (2) describe the population history of the Yuksekyer settlements within an ethnohistorical context, and (3) contextualize the findings of broader studies, which address major population events, such as the Neolithic expansion and the Turkic invasion, from a local perspective. To accomplish these goals, ethnohistorical fieldwork was conducted using interviews and questionnaires to obtain genealogical information about participants and record the local histories of these settlements, including their cultural and social affinities with each other. During this process, biological samples were also collected from the Yuksekyer inhabitants for genetic analysis. These samples were screened for mtDNA, Y-chromosome, and autosomal polymorphisms, and the resulting data analyzed with statistic and phylogenetic methods to define the biological affinities of Central Anatolian populations, and reconstruct the migration history of the region. The ethnohistorical information obtained through fieldwork facilitated a more thorough historical and cultural understanding of genetic variation in Turkey than has been achieved in previous studies. Furthermore, by working at the local level, it was possible to distinguish patterns of diversity resulting from long-term inhabitation versus those arising from recent immigration into the region. The results of this study revealed that in the village level, the paternal genetic diversity was strongly structured among settlements due to patrilocality. In contrast, maternal genetic diversity is distributed more homogenously. The signatures of Turkic invasion, the Caucasus origins of a particular settlement and recent migrations were all evident in different settlements within Yuksekyer. On the national level, a reassessment of previous genetic studies of Turkish populations indicated that these studies suffer from major sampling bias. Overall, this study emphasizes the value of ethnohistorically contextualized sampling with a multi-allelic genetic analysis to obtain a more complex understanding of the study populations and better delineate the patterns of genetic history in Anatolia."
Timur Serdar and Demircin Sema. "Y-SNP haplogroups in the Antalya population in Turkish Republic." Romanian Journal of Legal Medicine 17:1 (2009): pages 59-68. This study is limited to Turkey's Antalya province.
Christine Keyser-Tracqui, Eric Crubézy, and Bertrand Ludes. "Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia." American Journal of Human Genetics 73:2 (August 2003): pages 247-260. Published online on July 10, 2003.
Excerpts:
"These graves correspond to a group of genetically linked individuals, since they belong to a single paternal lineage. Interestingly, this paternal lineage has been, at least in part (6 of 7 STRs), found in a present-day Turkish individual (Henke et al. 2001). Moreover, the mtDNA sequence shared by four of these paternal relatives (from graves 46, 52, 54, and 57) were also found in a Turkish individuals (Comas et al. 1996), suggesting a possible Turkish origin of these ancient specimens. Two other individuals buried in the B sector (graves 61 and 90) were characterized by mtDNA sequences found in Turkish people (Calafell 1996; Richards et al. 2000). These data might reflect the emergence at the end of the necropolis of a Turkish component in the Xiongnu tribe."
Henke et al. 2001 = J. Henke, L. Henke, P. Chatthopadhyay, Manfred Kayser, M. Dülmer, S. Cleef, H. Pöche, and H. Felske-Zech. "Application of Y-chromosomal STR haplotypes to forensic genetics." Croatian Medical Journal 42:3 (2001): pages 292-297.
Comas et al. 1996 = D. Comas, F. Calafell, E. Mateu, A. Pérez-Lezaun, and J. Bertranpetit. "Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations." Molecular Biology and Evolution 13 (1996): pages 1067-1077. Excerpt: "When compared to other Caucasoid populations through the pairwise difference distribution, there is a pattern from the Middle East (older expansion) to the various European populations, with Turkey in an intermediate position; when Turkish sequences are compared through a neighbor-joining tree on a genetic distance matrix of populations, this position is again evidenced."
Calafell 1996 = F. Calafell, Peter A. Underhill, A. Tolun, D. Angelicheva, and L. Kalaydjieva. "From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks." Annals of Human Genetics 60: Part 1 (1996): pages 35-49.
Nancy Touchette. "Ancient DNA Tells Tales from the Grave." Genome News Network (July 25, 2003). Excerpt:
"DNA from a 2,000-year-old burial site in Mongolia has revealed new information about the Xiongnu, a nomadic tribe that once reigned in Central Asia. Researchers in France [Christine Keyser-Tracqui, et al.] studied DNA from more than 62 skeletons to reconstruct the history and social organization of a long-forgotten culture. [...] Skeletons from the most recent graves also contained DNA sequences similar to those in people from present-day Turkey. This supports other studies indicating that Turkish tribes originated at least in part in Mongolia at the end of the Xiongnu period."
See also "What it means to be a Turk" by Razib Khan in Discover Magazine's Gene Expression blog, June 2009. Khan pointed out that Turks from Turkey look different (white, Middle Eastern) than Central Asian Turks who are often visibly Mongoloid. I have met Anatolian Turks and can confirm they look very different from the Kazakhs I've known, for instance.
In December 2010, Razib Khan followed up with the entry "Are Turks Acculturated Armenians?" Here's part of what he wrote: "[...] Turkish samples [of Turkey] have non-trivial, though minor, northeast Asian ancestry. The Yakut themselves are a Turkic group situated to the north of Mongolia. The more southerly and central Asian affinities the nomadic ancestors of the Anatolia Turks may have picked up in their sojourns over the centuries between their original homeland in east-central Siberia and Mongolia and West Asia. The rest of ancestry is rather typical of northern West Asian groups. In particular, Armenians! [...] So what's a plausible interpretation [of the very close correlations between Armenians and Turkey Turks]? A straightforward one would be that the Muslim Turk population of Anatolia has a strong bias toward having been assimilated Armenians, rather than Greeks."
Luca L. Cavalli-Sforza, Paolo Menozzi, and Alberto Piazza. The History and Geography of Human Genes. Princeton, NJ: Princeton University Press, 1994. Excerpt from page 102:
"Conquerors, if well-organized, can be a small minority. Two such cases are the previously cited examples of Turkey and Hungary, which are well-known historically [...]"
Siiri Rootsi, Natalie M. Myres, Alice A. Lin, Mari Järve, Roy J. King, Ildus A. Kutuev, Vicente M. Cabrera, Elza K. Khusnutdinova, Kärt Varendi, Hovhannes Sahakyan, Doron M. Behar, Rita Khusainova, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Levon Yepiskoposyan, Ardeshir Bahmanimehr, Shirin Farjadian, Alena Kushniarevich, Rene J. Herrera, Viola Grugni, Vincenza Battaglia, Carmela Nici, Francesca Crobu, Sena Karachanak, Baharak Hooshiar Kashani, Massoud Houshmand, Mohammad H. Sanati, Draga Toncheva, Antonella Lisa, Ornella Semino, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild, and Peter A. Underhill. "Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus." European Journal of Human Genetics Forthcoming in print. First published online on May 16, 2012. The study incorporated some Turkish data from Cinnioglu et al. 2004 and Myers et al. 2010 (misspelled as Myres on their spreadsheet) and divides the Anatolian Turks into three geographical groups (West, Central, and East) and separately accounted for Kurds from Cicilia. Supplementary Table 1 says "Turkey West" had 163 males participating of whom 15 (9.2%) belonged to haplogroup G: 0.6% were in subclade G-P15, 2.5% in G-P16, 0.6% in G-M286, 1.2% in G-P303, 0.6% in G-U1, 0.6% in G-L497, 2.5% in G-M406, and 0.6% in G-M287. "Turkey Central" had 246 participants of whom 30 (12.2%) were in G: 0.4% in G-P15, 1.2% in G-P16, 0.8% in G-M485, 1.6% in G-P303, 2.4% in G-U1, 2.4% in G-M406, and 3.3% in a subclade whose name doesn't appear on the spreadsheet. "Turkey East" had 208 participants of whom 26 (12.5%) were in G: 0.5% in G-M285, 1.9% in G-P20, 2.9% in G-P15, 1% in G-P16, 1% in G-P303, 1% in G-U1, 2.4% in G-M406, 0.5% in G-M377, and 1.4% in the unnamed subclade. "Turkey East" could be significant as the authors suggest that G could have originated in eastern Anatolia, based on the high haplogroup diversity of G in that region (0.89), second only to Armenia.
How Turkish are Anatolians? revisiting the question
In 2005, I estimated the Y-chromosome heritage of Turkic speakers on modern Anatolians at 11%.
In the same year, I estimated the Mongoloid admixture in Anatolian Turks at 6.2% on the basis of Y-chromosome and mtDNA. This is not inconsistent with the previous percentage, as the Turks, when they arrived in Anatolia were almost certainly of mixed Caucasoid-Mongoloid heritage.
Surprisingly, the maternal contribution from East Eurasia seems higher than the paternal one, on the basis of uniparental markers. But, that is not so surprising if one considers that the Turks who arrived to Anatolia were to a degree descended from Turkicized groups of Iranian steppe nomads bearing Caucasoid patrilineages. Already we have ancient DNA evidence of groups in Central Asia with Caucasoid patrlineages (R1a1) and mixed Caucasoid-Mongoloid mtDNA.
In 2007, some Turkish researchers estimated, using Alu polymorphisms, the Central Asian admixture in Turks at 13%, quite close to my own estimate, and, given the observation that there is more Mongoloid mtDNA than Mongoloid Y-chromosomes in modern Anatolians, the slight difference of 2% is probably taken care of.
In October, I estimated the Mongoloid admixture in Turks at 5.5%, quite close to the 6.2% arrived in 2005 using Y-chromosomes and mtDNA. Subsequently, my K=10 Dodecad analysis (spreadsheet) arrived at 6.7% sum of "East Asian" and "Northeast Asian" components. The slight increase is not surprising, as the K=10 analysis included a greater sampling of Mongoloid diversity.
In ISBA4, another group of Turkish researchers arrived at a 13% estimate for the nomadic Turkic element in modern Anatolian Turks.
Finally, my K=15 analysis has revealed 7.9% "eastern" components in Turks. Given that the "Central Siberian" component is equidistant from Caucasoids and Mongoloids, this translates into about 7.2% East Eurasian admixture. Again, the slightly larger result can be accounted by the sampling of even greater Mongoloid diversity, from the previously unsampled Siberia.
Summary
Y-chromosome, mtDNA, and autosomal DNA analysis by myself and by Turkish researchers all point to 6-7% of Turkish genetic heritage being specifically east Eurasian in origin, and about 1/7 of their genetic heritage coming from Central Asia.
ADMIXTURE analysis
I received an e-mail from a Turkish participant in the project, who wondered whether the K=15 analysis was supportive of much higher demographic influence of Central Asian Turks in the current Turkish population.
In particular, a back-of-the-envelope calculation of "eastern" components in Turks and Uzbeks led him to the conclusion that this was at least 20% and probably more.
Thus, I decided to perform direct ADMIXTURE analysis of Turks and Uzbeks to see what the estimate of Central Asian admixture in Turks actually is.
In the above figure, there are (left-to-right): 1 Dodecad Project 50% Turk-50% Laz showing no Central Asian admixture, 3 Dodecad Project Turks, 19 Turks from Behar et al. (2010), followed by Uzbeks (blue, with some seemingly admixed individuals), followed by 15 Dodecad Project Greeks and Armenians (red).
Behar et al. (2010) Turks have 15.4% Central Asian admixture; if we add the 3 Dodecad Project Turks to the sample, this becomes 14.4%. I'll be happy to tell the three Turks in the Project their individual proportions if they e-mail me.
In conclusion, this analysis too provides an estimate of the Central Asian component in Turks similar to all the ones listed in the beginning.
Conclusion
Estimating the precise genetic identity of nomadic Turks at their time of arrival in Anatolia is difficult to achieve. First of all, modern Anatolian Turks are a subset of recent Anatolians; second, there is the problem of how many Iranian-speakers were absorbed by the westward migrating Turks from Central Asia, and when; also, what was the impact of the Mongol expansion in Central Asia after Turks had already reached the west, and later what were the impacts of Chinese and Russian expansion in the Eurasian heartland.
It's all a big puzzle, but, for the time being 5-7% East Eurasian admixture in modern Anatolian Turks and about 1/7th of their heritage coming from Central Asia seems like a reasonable estimate
