Slovenian Genetics: Abstracts and Summaries

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Slovenia is in the northwestern quadrant of the Balkan Peninsula and shares borders with Austria, Croatia, Hungary, and Italy. The Slovenian language belongs to the South Slavic language family.

Y-DNA (paternal DNA) haplogroups are distributed among the Slovenians at these approximate frequencies:
R1a = 34.5% to 37.18% - appears to come from early Indo-European speakers
R1b = 15.7% to 23.5%
I2a = 22% - also common in Croatians & Bosnians
I1 = 9.5% to 10.8%
E1b1b = 3% - common in the Middle East and North Africa
J2 = 3% - from the northern Middle East
G2a = 1.5% to 2.88%
I2b = 1% to 2%
J1 = 1% - from the southern Middle East

mtDNA (maternal DNA) haplogroup frequencies are distributed among the Slovenians at these approximate frequencies, in order of descending frequency:
H = 44.68% to 47%
U = 16.11% to 19% (of which, of the 19%, 10.5% are in U5, 6% are in U4, 2% are in U3, and 1% are in U2)
J = 9.5%
V = 6.5%
T = 6%
W = 5%
K = 4% to 5.78%
I = 2%
X2 = 1%

Major studies of Slovenians

Boris Abramovich Malyarchuk, Tomasz Grzybowski, Miroslava V. Derenko, Jakub Czarny, K. Drobnič, and Danuta Miścicka-Śliwka. "Mitochondrial DNA Variability in Bosnians and Slovenians." Annals of Human Genetics 67 (2003): pages 412-425. 104 Slovenians and 144 Bosnians were tested for their mtDNA. Excerpts from the Summary:

"[...] The majority of the mtDNA detected in Southern Slavonic populations falls into the common West Eurasian mitochondrial haplogroups (e.g., H, pre-V, J, T, U, K, I, W, and X). About 2% of the Bosnian mtDNAs encompass East Eurasian and African lineages (e.g., M and L1b, respectively). The distribution of mtDNA subclusters in Bosnians, Slovenians and the neighbouring European populations reveals that the common genetic substratum characteristic for Central and Eastern European populations (such as Germans, Poles, Russians and Finns) penetrates also South European territories as far as the Western Balkans. However, the observed differentiation between Bosnian and Slovenian mtDNAs suggests that at least two different migration waves of the Slavs may have reached the Balkans in the early Middle Ages."

Excerpts from the body of the study: "[...] In summary, this study reveals that the genetic pool of Bosnians has more similarities with other Southern European populations - the presence of typically South European mtDNA haplogroups, such as pre-HV, HV2 and U1 (Richards et al. 2000), and even one African-specific L1b sequence, which is observed, nevertheless, at low frequencies in Southern Italy (Rickards et al. 2000). Meanwhile, other examples presented here show that Bosnians and Slovenians possess interesting combinations of mtDNA subclusters and separate CR sequence types, characteristic mostly of Central and Eastern Europeans. This suggests that the common genetic substratum observed in modern German, Slavonic and western Finno-Ugric populations also penetrates also South East European populations, reaching territory as far as the Western Balkans. Meanwhile, genetic evidence concerning observed differentiation of Bosnians and Slovenians at the level of mtDNA subclusters may suggests [sic] that different groups of the Slavs penetrated the Balkans during their move to the south. [...] It is noteworthy that Slavonic-speaking populations (Poles, Russians, Belorussians, Ukrainians, Czechs, Slovaks) are characterized by a high frequency (30%-50%) of [...] [Y-DNA] haplogroup, R1a [that] according to the Y Chromosome Consortium (2002), is rare in Western and Southern Europe, including Greeks (8%-21%), Albanians (10%?12%), Italians (2%-4%), but notably it is present in Slavonic-speaking populations of the Balkan Peninsula, being found at a relatively high frequency in Croats (29.3%), Slovenians (37.0%) and Macedonians (35.0%), with the possible exception of Bulgarians (12%) (Malaspina et al. 2000; Rosser et al. 2000; Semino et al. 2000). This high level of the haplogroup R1a in the majority of the Southern Slavs appears to be a good indicator of the genetic impact of the expanding Slavonic waves in past times. [...]"

I. Zupanic Pajnic, J. Balazic, and R. Komel. "Sequence polymorphism of the mitochondrial DNA control region in the Slovenian population." International Journal of Legal Medicine 118:1 (February 2004): pages 1-4. 129 Slovenians were tested for their mtDNA. Excerpts from the Abstract:

"The most frequent haplotypes in the Slovenian population,263(G), 315.1(C) and 263(G), 309.1(C), 315.1(C) are also the most common in other European populations. The data support the concept that these haplotypes may represent a [sic] common European mtDNA sequence types. The sequence poymorphisms were compared to the databases of west Austria and central Italy and the HVI and HVII sequence matching probabilities within and between populations were calculated. It is 1.1-4.5 times more likely to find a sequence match in a random pair of Slovenians than in a random Slovenian-Italian pair and in a random Slovenian-Austrian pair."

Marjeta Manfreda Vakar and Darko Vrečko. "Slovenija v DNK bazenu Sveta." [Slovenia in the DNA Pool of the World] Zborniki (Proceedings) of the Eighth International Topical Conference, Izvor Evropejcev (Origin of Europeans), Ljubljana, 4. in 5. junij 2010, Korenine slovenskega naroda (Project Origin of Slovenians), Zbornik 10, pages 29-51. Most of the paper is written in Slovenian, except the abstract is in English (excerpted below):

"[...] Results of the analysis of the 320 Y-DNA haplotypes show that the most frequent male haplogroup in Slovenia is R1a1a (38.44 ± 5.33 %), the second most common one is I2a2 (21.25 ± 4.48 %), followed by R1b (15.94 ± 4.01 %), I1 (10.00 ± 3.29 %), E1b1b1a (5 ± 2.39 %), G (3.13 ± 1.91 %), J (2.81 ± 1.81 %), etc. [...] Comparison of the Slovenian Y-DNA haplotypes with the haplotypes from other countries shows that the Slovenian haplotypes R1a1a are mostly found with Belarusians, Poles, Slovaks, Ukrainians, Russians and Czech. I2a2a haplotypes are mostly found in the population of Herzegovina (BiH), southern Croatia, some places of Belarus, particular in Brest, in the rest of Croatia, Serbia. R1b haplotypes are mostly found in the population of northern Spain, Great Britain, Nederland, Belgium, northern Italy. I1 haplotypes are mostly found in the population of Scandinavia, Germany, Switzerland and Austria. Comparison also shows that Slovenians share the highest number of various Y-DNA haplotypes with the Poles, Germans, Czechs, Croatians and Russians. Haplotypes found in Slovenia, which are very rare in the world, are often found in Poland, especially in the city of Wroclaw. Analysis of the 329 mtDNA haplotypes from Slovenia indicates that the most frequent female haplogroup is H (44.68 ± 5.37 %), followed by the U (16.11 ± 3.97 %), J and T (9.42 ± 3.16 %) and K (5.78 ± 2.52 %). [...]"

Also see this English summary of Vakar and Vrečko's research for more descriptions, tables, and charts: "Y-DNA Routes of the Ancestors of Slovenes" at Veneti.info (January 31, 2009).

Jože Škulj. "Etruscans, Veneti and Slovenians: A genetic perspective." The Voice of Canadian Slovenians/Glasilo kanadskih slovencev (September/October 2004): pages 53-56. Uses several genetic studies to compare ancient DNA (mostly mtDNA) with modern populations, including Slovenians. Excerpts:

"[...] Vernesi et al. obtained fragments of well preserved skeletons from Etruscan necropolises, [...] Vernesi et al. compared the mtDNA results obtained from the ancient remains to a number of modern populations. Unfortunately, they did not take into account the genetic studies of Slovenians (Malyarchuk 2003), who are geographically relatively close to Adria. [...] The Etruscan influences in the 7th and 6th centuries B.C., went beyond its heartland and extended to, Adria in the Po valley in the north and to Capua in the south. It is generally accepted, that present day Tuscans are the Etruscans' closest neighbors (Wellard 1973, Vernesi 2004). [...] The Veneti and Etruscans appear to be related. [...] There is historical, linguistic and topographic evidence that present day Slovenians are indigenous to their land and descendents of the Veneti ([avli 1996). [...] In the bone fragments, taken from the tombs of Etruria, Capua and Venetia, Vernesi et al. have found that out of 22 mtDNA HVS1 haplotypes, which they observed in 28 individuals, only two of them, CRS and 16126, occur in a sample of modern Tuscans and carried by 14% of them. Tuscans are considered to be the descendants of the Etruscans. Both haplotypes occur in skeletons from Adria and Magliano/Marsiliana. [...] Comparing the results of Vernesi et al and Malyarchuk et al, it becomes apparent that, the present day Slovenians, carry more than just CRS and 16126 'Etruscan' mtDNA HVS1 haplotypes found in the Tuscans. Twice as many 'Etruscan' haplotypes have been found in Slovenians than in Tuscans, namely: CRS, 16261, 16223, 16311. These were found in skeletal remains from Adria, Magliano/Marsiliana and also from Volterra. Two additional haplotypes from Adria, 16126 and 16129, are similar to Slovenian haplotypes, but the Slovenian haplotypes differ from the 'Etruscan' ones of Adria, by an additional substitution; 16069- 16126 and 16129-16304. However, haplotype 16129 without the 16069 substitution is found in Bosnia. [...] The root type 16069-16126 HVS1 sequence, present in 8% of Slovenians, is very diverse and may represent a trace of Neolithic (new Stone Age at the beginning of agriculture) migration from the Middle East (Malyarchuk 2003). Haplotypes CRS, 16223, 16261 and 16311 are carried by 17% of Slovenians. They belong to haplogroup H, [...]; this haplogroup is the most common one in Slovenians at 47% (Richards 2000, Malyarchuk 2003). [...] While Tuscans share 2 haplotypes with the Etruscans, Slovenians and Bosnians share 3 haplotypes. It should also be noted that 2 additional Etruscan haplotypes from Adria in Veneto, differ from the Slovenian haplotypes by one to three substitutions. Considering the evidence, this shows the relatively strong genetic mtDNA relationship between ancient Veneti and modern day Slovenians. [...] There is a genetic continuity between the ancient Etruscans and Veneti and the present day Slovenians. Genetic information makes it evident, that Slovenians are indigenous to their land as indicated by the mtDNA relationship with the 2,500 year old skeletal remains of the Etruscans, particularly those from Adria in Veneto. [...]"

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. According to "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed", of 104 Slovenian males tested, 2.88% belong to E-M78 and 2.88% to E-V13.

Jelena Šarac, Tena Šarić, Dubravka Havaš Auguštin, Natalija Novokmet, Maruška Vidovič, Ene Metspalu, Saša Missoni, Richard Villems, and Pavao Rudan. "Maternal genetic variation of the Slovenian population in a broader European context and compared to its paternal counterpart." In The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine: Program and Abstracts, edited by Stanimir Vuk-Pavlović, Dragan Primorac, and Moses Schanfield. Zagreb, Croatia: ISABS - International Society for Applied Biological Sciences, 2013. Abstract on page 222. The researchers' chief goal was to study the SNP markers of 97 mtDNA samples from Slovenians at high resolution. They looked at how the Slovenians compare with other peoples of southeastern Europe (called "SEE" in the abstract), and compared mtDNA patterns to Y-DNA patterns. Excerpts from the Abstract:

"[...] In the PC plot based on mtDNA haplogroups frequencies, Slovenian population has an outlying position mostly due to the increased prevalence of J (14.4%) and T (15.4%) clade and especially because of the abundance and diversity of J1c samples in Slovenia, represented with 8 haplotypes and in a percentage of >11%. Although in an outlying position, Slovenian mtDNA variation still shows a certain degree of affinity to SEE. On the contrary, Slovenia's paternal genetic heritage yielded results that correspond to the population's geographic location and groups Slovenian population considerably closer to Central European countries, based on increased prevalence of Northern/Central European R1a-M198 and decreased frequency of Balkan-specific I2a2-M423. [...]"


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