Slovak Genetics: Abstracts and Summaries

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Slovakia is a country in Central Europe. It's located southeast of the Czech Republic, east of Austria, west of Ukraine, north of Hungary, and south of Poland. The Slovak language is related to the Czech language; both are members of the West Slavic language family. Slovak's western and central dialects are generally mutually intelligible with Czech. Eastern dialects of Slovak have similarities with the Rusyn language spoken in western Ukraine. The Slovak language borrowed some words from Czech, Polish, German, Hungarian, Romanian, and English.

A west-east divide among Slovaks is also reflected in their genetics. Western Slovaks are closely related to Czechs and Austrians, whereas eastern Slovaks are close to Slovenians.

Haplogroups within the R1a Y-DNA haplogroup are commonly found among Slovaks, at a frequency of 40 percent of Slovak men. This haplogroup, also common among Hungarians, Poles, Ukrainians, and Austrians, is associated with the early Indo-Europeans.

In terms of maternal genetic (mtDNA) haplogroups, most of those found among the Slovaks are also found among other peoples in Europe. However, 2.8 percent of their mtDNA lineages trace back to Roma ("Gypsy") women who had intermarried with Slovaks. Also, some eastern Slovaks carry the African mtDNA haplgroup L2a. Slovaks also have a M haplotype that's found in the Near East and among Italians.

Major studies of Slovaks

Boris Abramovich Malyarchuk, Maria A. Perkova, Miroslava V. Derenko, Tomas Vanecek, Jan Lazur, and P. Gomolcak. "Mitochondrial DNA Variability in Slovaks, with Application to the Roma Origin." Annals of Human Genetics 72:2 (2008): pages 228-240.
      Table 1 lists H1, H1a, H1b, H2, H4, H5a, H6, H7, H11a, HV0, HV3, I1, I3, J1a, J2a, M1b1a, N1b, U2, U4, U4a, U5a, U5b as some of the mtDNA branches found among Slovaks. Summary:

"To gain insight into the mitochondrial gene pool diversity of European populations, we studied mitochondrial DNA (mtDNA) variability in 207 subjects from western and eastern areas of Slovakia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding region haplogroup-specific RFLP-markers, revealed that the majority of Slovak mtDNAs belong to the common West Eurasian mitochondrial haplogroups (HV, J, T, U, N1, W, and X). However, a few sub-Saharan African (L2a) mtDNAs were detected in a population from eastern part of Slovakia. In addition, about 3% of mtDNAs from eastern Slovakia encompass Roma-specific lineages. By means of complete mtDNA sequencing we demonstrate here that the Roma-specific M-lineages observed in gene pools of different Slavonic populations (Slovaks, Poles and Russians), belong to Indian-specific haplogroups M5a1 and M35. Moreover, we show that haplogroup J lineages found in gene pools of the Roma and some Slavonic populations (Czechs and Slovaks) belong to new subhaplogroup J1a, which is defined by coding region mutation at position 8460."
Excerpts from the middle of the text:
"[...] According to anthropological and archaeological data, the homeland of the Slavs is located on the broad territories encompassing the eastern part of the Czech Republic, Slovakia, southern Poland and western Ukraine [...] The overwhelming majority of Slovak mtDNA haplotypes were classified into West Eurasian haplogroups (such as H, HV0, HV2, HV3, J, T, U, I, W, X, N1b) (Table 2). Only two distinct haplotypes belonging to African-specific haplogroup L2a were detected in eastern Slovakia, this finding was not unexpected because low frequencies of African mtDNAs were previously found in different European populations (Salas et al. 2002; Malyarchuk et al. 2004; Malyarchuk & Czarny, 2005; Pereira et al. 2005). In eastern Slovaks, two haplotypes belonging to macrogroup M were also detected (Table 1). However, in contrast to the previously studied Czech population from western Bohemia (Malyarchuk et al. 2006b), samples from Slovakia do not display any East Eurasian mtDNAs. One of the Slovak M-haplotype belongs to subhaplogroup M1b and is identical to M1b1a haplotypes revealed in Italians and Bedouins from southern Israel (Olivieri et al. 2006) as well as in Saudi Arabs (Abu-Amero et al. 2007). A second M-lineage [...] This lineage is identical to those revealed previously in gene pools of the Bulgarian Roma at frequency of 3.6% (Gresham et al. 2001). [...] we have found that our sample belongs to haplogroup M35 due to mutations at positions 199 and 12561. Moreover, it shared transition at 15928 with the South Indian sample T17 (from Andhra Pradesh) that allowed us to define a new Indian/Roma branch called as M35b. [...] Thus, our findings point to a possible Indian origin of both Roma-specific haplogroups, M5a1b and M35b. [...] As in other European populations, the most frequent [mtDNA] haplogroup in Slovaks is haplogroup H that encompasses 45.4%. Similar frequencies of this haplogroup (44%) have been previously revealed in Czech population (Malyarchuk et al. 2006b). [...] The MDS analysis performed on the basis of pairwise FST values revealed that Slovak populations do not cluster together. Western Slovaks are located together with the Czechs and Austrians (in accordance with their geographic proximity), whereas eastern Slovaks are placed close to Slovenians (Fig. 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.
      24 Slovak males have their Y-DNA data reported on "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" which indicates that 8.33% of them placed into E-M78 and 8.33% into E-V13.

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 Slovaks.

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.
      The mtDNA haplogroup L2a1a found among some Slovaks is seen as anciently African in origin.

Slobodan Davidovic, Boris Abramovich Malyarchuk, Jelena M. Aleksic, Miroslava V. Derenko, Vladanka Topalovic, Andrey Litvinov, Milena Stevanovic, and Natasa Kovacevic-Grujicic. "Mitochondrial DNA perspective of Serbian genetic diversity." American Journal of Biological Anthropology 156:3 (March 2015): pages 449-465. First published online on November 24, 2014.
      The Slovak branch of mtDNA haplogroup L2a was renamed from L2a1a to L2a1k on the official phylogenetic tree and it is shared with Czechs, Bulgarians, Serbs, and Croatians.

Krzysztof Rębała, I. Veselinović, D. Siváková, E. Patskun, S. Kravchenko, and Z. Szczerkowska. "Northern Slavs from Serbia do not show a founder effect at autosomal and Y-chromosomal STRs and retain their paternal genetic heritage." Forensic Science International: Genetics 8:1 (January 2014): pages 126-131. First published electronically on September 4, 2013.
      42% of ethnic Slovaks living in Serbia carry the Y-DNA haplogroup R1a.

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