Czech Genetics: Abstracts and Summaries

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The Czech Republic - consisting of the regions of Bohemia, Moravia, and Czech Silesia - borders Germany, Austria, Poland, and Slovakia in the center of Europe. The Czech language is related to the Slovak language; both are members of the West Slavic language family. People who speak Czech can usually understand Slovak's western and central dialects. Czech, like Slovak, is written in a Latin script with special accents.

The Czech people are predominantly European in origin, similar to their neighbors, but also have some interesting roots from Asia and Africa.

A study on Czech-Americans led by Leo Baca showed 50% have mtDNA haplogroup H, 17% have U, 3% have X, 3% have J, 8% have T, 13% have K, 3% have V, and 3% have the sub-Saharan African haplogroup L2. In terms of Y-DNA, 20% of Czech-American men studied by Baca's team were found to have haplogroup 1(R1b), 20% to have 2(I, I1b), 33% to have 3(R1c), 25% to have 9(G, J2, K), 2% to have 21(E3b).

Major studies of Czechs

Boris Abramovich Malyarchuk, Tomas Vanecek, Maria A. Perkova, Miroslava V. Derenko, and Miroslav Sip. "Mitochondrial DNA Variability in the Czech Population, with Application to the Ethnic History of Slavs." Human Biology 78:6 (December 2006): pages 681-696. Abstract:

"Mitochondrial DNA (mtDNA) variability was studied in a sample of 179 individuals representing the Czech population of Western Bohemia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding-region haplogroup-specific RFLP markers revealed that most Czech mtDNAs belong to the common West Eurasian mitochondrial haplogroups (H, pre-V, HV*, J, T, U, N1, W, and X). However, about 3% of Czech mtDNAs encompass East Eurasian lineages (A, N9a, D4, M*). A comparative analysis with published data showed that different Slavonic populations in Central and Eastern Europe contain small but marked amounts of East Eurasian mtDNAs. We suggest that the presence of East Eurasian mtDNA haplotypes is not an original feature of the gene pool of the proto-Slavs but rather may be mostly a consequence of admixture with Central Asian nomadic tribes, who migrated into Central and Eastern Europe in the early Middle Ages."

Excerpts from the middle of the text:

"[...] we found that most of the mitochondrial haplotypes in our Czech population from Western Bohemia are clustered into West Eurasian haplogroups HV (H, pre-V, HV*), J (J1, J2), T (T1, T*), U (K, U2c, U3, U4, U5a, U5b, U8a), N1 (I, N1a, N1b), N2 (W), and X (Table 2). The frequency of East Eurasian-specific haplotypes in Czechs is low (2.8%). These haplotypes belong to macrohaplogroups M (D4 and M*) and N (A and N9a). [...] The main mitochondrial haplogroup in the Czech population is H, present in 44% of the Czech samples. [...] Haplogroup J is characterized by high frequency in the Czech population (11.7%) and is represented by subgroups J1b, J1c, and J2a. Among J1b haplotypes one specific branch, J1b*, is remarkable, because this haplotype is characterized by the HVS I motif 16069-16126-16145-16222-16235-16261-16271, which is rare in European populations but is typical in Polish and Spanish Roma (Gresharn et al. 2001; Malyarchuk et al. 2006). Among Europeans this haplotype has previously been revealed at highest frequency in Czechs (2.3%; Vanecek et al. 2004). It is noteworthy that the U2c haplotype found in the Czech population (see Table 1) is also of Asian ancestry, because it has been shown that the distribution of haplogroup U2c is essentially restricted to Indo-Pakistani regions (Quintana-Murci et al. 2004). In addition, Roma-specific mtDNA haplogroup M5 has been observed in the previously published Czech sample (Vanecek et al. 2004). Moreover, it is curious that the Roma-specific M5 lineages were also observed in other Slavonic populations: Poles (Malyarchuk et al. 2002), Bosnians (Malyarchuk et al. 2003), and Bulgarians (Richards et al. 2000). Several haplotypes (2.8%) found in our Czech population belong to East Eurasian haplogroups A, D4, N9a, and M*. It is noteworthy that almost all Slavonic populations studied to date show the presence of East Eurasian mtDNA haplogroups. They were found in 1.5% of Russians and 1.6% of Poles (Malyarchuk et al. 2002); in 1.4% of Bosnians (Malyarchuk et al. 2003; Cvjetan et al. 2004); and in 2% of Croatians, 1.5% of Herzegovinians, 0.9% of Serbians, and 2.1% of Macedonians (Cvjetan et al. 2004). [...] The Avars were a nomadic Turkicspeaking people of Eurasia who migrated into Central and Eastern Europe in the early 6th century. The Avars reached the territories of Wallachia, Pannonia, Transylvania, and Bohemia, where they established a powerful state (the Avar Khaganate), which ruled over areas of Eastern and Central Europe and controlled the Slavs, who had lived in the area before the Avar arrival. Avar rule persisted over much of the Pannonian plain up to the early 9th century. From that time, the Avars likely merged with the Slavs (Gimbutas 1971; Sedov 1979). Therefore it is possible that after Avar rule was destroyed, the Avar maternal lineages, including East Eurasian ones, were assimilated mainly by the Slavs. [...]"

F. Luca, F. Di Giacomo, T. Benincasa, et al. "Y-Chromosomal Variation in the Czech Republic." American Journal of Physical Anthropology 132 (2007): pages 132-139.

Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M. Myres, Roy J. King, Siiri Rootsi, Damir Marjanovic, Dragan Primorac, Rifat Hadziselimovic, Stojko Vidovic, Katia Drobnic, Naser Durmishi, Antonio Torroni, Augusta Silvana Santachiara-Benerecetti, Peter A. Underhill, and Ornella Semino. "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe." European Journal of Human Genetics 17 (2009): pages 820-830. First published online on December 24, 2008. 75 Czech males participated in this study. Their Y-DNA haplogroups were found in these frequencies:
G2a* among 4%
I1* among 9.3%
I2a1* among 17.4%
I2b1 among 1.3%
J2b* among 1.3%
J2b2 among 4%
N1 among 2.7%
R1a1* among 41.3%
R1b1* among 1.3%
R1b1b2 among 33.3%
T among 1.3%

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12." Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" informs readers that of the 268 Czech males they studied, 4.85% belong to E-M78 and 4.85% to E-V13.

Boris Abramovich Malyarchuk, Maria A. Perkova, and Miroslava V. Derenko. "On the origin of Mongoloid component in the mitochondrial gene pool of Slavs." Russian Journal of Genetics 44:3 (March 2008): pages 344-349. This study explains that most Czech mtDNA lineages are of western Eurasian origin but that 1.8% of them come from eastern Eurasian (Mongoloid) populations. The eastern ones Czechs have are the haplogroups A, N9a, and M. The Czech haplogroup L2a, "marked by the +13803HaeIII variant", is found among 0.4% of Czechs and described as an "African lineage".

Boris Abramovich Malyarchuk, Miroslava V. Derenko, Maria A. Perkova, Tomasz Grzybowski, Tomas Vanecek, and J. Lazur. "Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs." European Journal of Human Genetics 16:9 (September 2008): pages 1091-1096. First published electronically on April 9, 2008. This scientific team explored "the origin of African-specific mtDNA lineages", including those appearing "to be of West African origin", that are found in very small frequencies among four Slavic peoples, including Czechs. According to the Abstract:

"However, a prehistoric introgression of African mtDNA lineages into Eastern Europe (approximately 10 000 years ago) seems to be probable only for European-specific subclade L2a1a, defined by coding region mutations at positions 6722 and 12903 and detected in Czechs and Slovaks."

M. Mielnik-Sikorska, P. Daca, Marcin Woźniak, Boris Abramovich Malyarchuk, Miroslava V. Derenko, K. Skonieczna, and Tomasz Grzybowski. "The history of Slavs in the light of Y chromosome and mtDNA variability." A paper presented at the DNA in Forensics 2012 conference in Innsbruck, Austria between September 6-8, 2012. Includes mtDNA samples from Czechs. A genetic continuity is seen between the ancient Corded Ware culture people (who inhabited central and eastern Europe, including territory comprising the Czech Republic) and modern Czechs and other Slavs.


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