Genetic studies on Bulgarians

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Historical contribution of donor source groups in European peoples according to Hellenthal et al., (2014). Polish is selected to represent Slavic-speaking donor groups from the Middle Ages that are estimated to make up 97% of the ancestry in Belarusians, 80% in Russians, 55% in Bulgarians, 54% in Hungarians, 48% in Romanians, 46% in Chuvash and 30% in Greeks. A genetic atlas of human admixture history - East Europe II and Mediterranean.png
Historical contribution of donor source groups in European peoples according to Hellenthal et al., (2014). Polish is selected to represent Slavic-speaking donor groups from the Middle Ages that are estimated to make up 97% of the ancestry in Belarusians, 80% in Russians, 55% in Bulgarians, 54% in Hungarians, 48% in Romanians, 46% in Chuvash and 30% in Greeks.

The Bulgarians are part of the Slavic ethnolinguistic group as a result of migrations of Slavic tribes to the region since the 6th century AD and the subsequent linguistic assimilation of other populations. [2] [3] [4] [5]

Contents

Hellenthal et al., 2014 estimated from data of 94 modern populations a couple of analyses on Bulgarians inferred from an admixture event in 1000-1600 YBP between a Slavic and a Cypriot donor group: to a Polish donor group Bulgarians are of an estimated 59% Polish-like and 41% Cypriot-like admixture; to a Belarusian, Bulgarians are of 46% Belarusian-like and 54% Cypriot-like admixture. [6] [7] Early gene flows between southeastern and eastern Europe make it difficult to obtain a correct estimate, although young enough identical by descent segments confirmed such connection and that the East and West Slavs share more identical by descent segments with South Slavs than with Greeks, inter-Slavic populations (a group of Romanians, Gagauz), but less with Balts, while the South Slavs share similar number with East and West Slavs, but fewer with Greeks. [8]

The phenomenon of distinct genetic substrata in the West, East, and South Slavs would imply several mechanisms, including cultural assimilation of indigenous populations by bearers of Slavic languages as a major mechanism of the spread of Slavic languages to the Balkan Peninsula. [8] [9] About 55% of the Bulgarian autosomal genetic legacy is Mediterranean, about the half of which resembles the Caucasian, Middle Eastern and to a lesser extent the North African genetics. [7] Combining all lines of evidence, it is suggested that the major part of the within-Balto-Slavic genetic variation can be mainly attributed to the assimilation of the pre-existing regional genetic components, which differ for West, East and South Slavic-speaking peoples. [8]

Around 4% of Bulgarian genes are derived outside of Europe and the Middle East or are of undetermined origin (by 858 CE), of which 2.3% are from Northeast Asia and correspond to Asian tribes such as Bulgars, [10] a consistent very low frequency for Eastern Europe as far as Uralic-speaking Hungarians.

Y-DNA

The national groups of Eastern Europe are characterized by dominant haplogroups R1a or I2, while those of Western Europe are characterized by dominant haplogroups R1b or I1, and by other dominant haplogroups in Europe are characterized Albanians, Finns, Greeks, and Turks, and over 50% of the total pool of each European nation other than the latter consists of these 4 haplogroups. [8] A consistent pattern of both all national and regional groups of Bulgarians and Balto-Slavs is that their sum of haplogroups R1a and I2 is always larger than their sum of R1b and I1, while this ratio is vice versa in the Europeans not native to the Post-Eastern Bloc. [8] Bulgarians, as some of their neighbours show the highest diversity of haplogroups in Europe, marked by significant (> 10%) frequencies of 5 major haplogroups. Most Bulgarians belong to three unrelated haplogroups, 20% of whom to I-M423 (I2a1b), 18% to E-V13 (E1b1b1a1b1a) and 17% to R-Z282 (R1a1ab1), but the biggest part belongs to macro-haplgoroup R (~28%). The major haplogroups, grouped by age of around 20 kya, are: [11]

The approximate frequency and variance distribution of haplogroup I-P37 clusters, ancestral "Dnieper-Carpathian" (DYS448=20) and derived "Balkan" (DYS448=19: represented by a single SNP I-PH908), in Eastern Europe per O.M. Utevska (2017). The approximate frequency and variance of haplogroup I-P37 clusters in Eastern Europe.jpg
The approximate frequency and variance distribution of haplogroup I-P37 clusters, ancestral "Dnieper-Carpathian" (DYS448=20) and derived "Balkan" (DYS448=19: represented by a single SNP I-PH908), in Eastern Europe per O.M. Utevska (2017).
I2a is recorded to be the dominant haplogroup in the former Sofia-city, Sofia, Plovdiv and Varna province between 23-33%, dropping under 10% in central Bulgaria. Bulgarian Hg I2a most often belongs specifically to the P37.2, M423 branch ("Hg I2a1b"), representing 20% of Bulgarian males, [12] the rest ~2% of Bulgarian males belong to the subclade M223 (I2a2a).It makes up an absolute majority among the tallest populations. Many authors claim that the higher ratio of I2a1b over R1a that is observed in the Balkans today was present before the Slavic expansion, owed to indigenous tribes, [8] [9] [17] [18] [19] while the most recent common ancestor of I-Y3120, to which all Bulgarian lines of I-P37 belong, is 2100 years old and challenges this suggestion. [20] Although older research considered that the high frequency of this subclade in the South Slavic-speaking populations to be the result of "pre-Slavic" paleolithic settlement in the region, the research by O.M. Utevska (2017) confirmed that the haplogroup STR haplotypes have the highest diversity in Ukraine, with ancestral STR marker result "DYS448=20" comprising "Dnieper-Carpathian" cluster, while younger derived result "DYS448=19" comprising the "Balkan cluster" which is predominant among the South Slavs. [21] This "Balkan cluster" also has the highest variance in Ukraine, which indicates that the very high frequency in the Western Balkan is because of a founder effect. [21] Utevska calculated that the STR cluster divergence and its secondary expansion from the middle reaches of the Dnieper river or from Eastern Carpathians towards the Balkan peninsula happened approximately 2,860 ± 730 years ago, relating it to the times before Slavs, but much after the decline of the Cucuteni–Trypillia culture. [21] More specifically, the "Balkan cluster" is represented by a single SNP, I-PH908, known as I2a1a2b1a1a1c in ISOGG phylogenetic tree (2019), and according to YFull YTree it formed and had TMRCA approximately 1,850-1,700 YBP (2nd-3rd century AD). [22] Although it is dominant among the modern Slavic peoples on the territory of the former Balkan provinces of the Roman Empire, until now it was not found among the samples from the Roman period and is almost absent in contemporary population of Italy. [23] It was found in the skeletal remains with artifacts, indicating leaders, of Hungarian conquerors of the Carpathian Basin from the 9th century, part of Western Eurasian-Slavic component of the Hungarians. [23] According to Pamjav et al. (2019) and Fóthi et al. (2020), the distribution of ancestral subclades like of I-CTS10228 among contemporary carriers indicates a rapid expansion from Southeastern Poland, is mainly related to the Slavs and their medieval migration, and the "largest demographic explosion occurred in the Balkans". [23] [24]

Haplogroup frequencies of Bulgarians

Provincesamples C2 (%) E1b1b1a (%) E1b1b1b (%) E1b1b1c (%) E* (%) G2a (%) H1a1a (%) I1 (%) I2a (%) I2c
(%)
J1 (%) J2 (%) L (%) N (%) Q (%) R1a (%) R1b (%) R2 (%) T1a (%)
M217M78M81M34M96P15M82M253L460M170M267M172M61M231M242M420M343M124M70
Burgas 4520.04.42.24.415.66.717.811.117.8
Haskovo 4129.32.42.47.32.49.829.314.62.4
Lovech 6224.21.64.83.216.13.217.71.61.619.44.81.6
Montana 801.223.72.53.76.218.75.07.51.222.56.21.2
Plovdiv 15920.82.50.63.80.65.722.61.31.99.40.60.616.411.91.3
Sofia City 598.51.73.43.43.427.11.76.88.520.313.61.7
Sofia Province 2570.817.11.96.60.44.325.33.910.90.40.417.59.30.40.8
Razgrad 2138.114.39.59.59.514.34.8
Varna 1520.06.76.733.36.713.313.3
unknown691.414.51.45.81.45.826.17.21.42.911.614.55.8
Total8080.519.6%
(158/808)
0.11.90.54.90.64.321.9%
(177/808)
0.43.310.5%
(85/808)
0.20.50.517.6%
(142/808)
10.9%
(88/808)
0.11.6

A phylogenetic analysis determines that the population of Haskovo Province has shorter genetic distance against the population of the Czech Republic than to the Bulgarian provinces, and that only the population of Burgas Province is closer to Haskovo than the Hungarian population, furthermore only datasets of two more Balkan or Slavic foreign populations(Greece and Croatia) are used and all other Slavic populations are excluded from this analysis. [46] The largest-scale study of the Hungarians (n=230) determined that [47] the remaining Finno-Urgic peoples are genetically their furthest populations, and clearly confirmed that the closest Europeans to the Hungarians are the Bulgarians, however the same study determines the Yugoslavs as the nearest population to Bulgarians. [48] According to DNA data for 17 Y-chromosomal STR loci in Macedonians, the Macedonian population has the lowest genetic distance against the Bulgarian population (0.0815). [49]

According to an older study of 127 Bulgarian males, frequencies are the following: 30% R (17% R1a, 11% R1b, 2% R*); 27.5% I; 20% E; 18% J; 1.5% G; 1.5% H; 1% T. [50]

According to another study involving 126 Bulgarian males, frequencies are the following: 30% I (25.5% I2a, 4% I1); 20,5% E; 17.5% R (R1b 11%, R1a 6%); 17.5% J (16% J2); 5.5% G; 4% Q; 1% L; 1% T; unknown 3%. [51]

According to another study involving 100 Bulgarian males, frequencies are the following: 34% I (29% I2a, 3% I1); 30% R (16% R1a, 14% R1b); 21% E (20% E1b1b1a); 9% J; 2% G; 2% T; 1% N. [52]

mtDNA

Prevailing mtDNA hgs Human migrations and mitochondrial haplogroups.PNG
Prevailing mtDNA hgs

Complementary evidence exists from mtDNA data. Bulgaria shows a very similar profile to other European countries – dominated by mitochondrial haplogroups Hg H (~42%), Hg U (~18%), Hg J/Hg T (~18%), and Hg K (~6%). [53] Like most Europeans, H1 is the prevailing subclade among Bulgarians. [54] Most of the U-carriers belong to U5 and U4. The distribution of the subclades of Haplogroup H have not been revealed. Recent studies show greater diversity within mt Haplogroups than once thought, as sub-haplogroups are being discovered, and often separate migrations and distributions of the Y-DNA haplogroups. While the Y-DNA variation in Europe is clinal, the mitochondrial is not. [55]

MtDNA haplgroups of ~1000 Bulgarians: [53]

auDNA and overall

Balto-Slavic comparison by A (autosomal DNA), B (Y-DNA) and C (mtDNA plot). PLOS 3.PNG
Balto-Slavic comparison by A (autosomal DNA), B (Y-DNA) and C (mtDNA plot).


Whilst haploid markers such as mtDNA and Y-DNA can provide clues about past population history, they only represent a single genetic locus, compared to hundreds of thousands present in nuclear, autosomes. Although autosomal analyses often sample a small number of Bulgarians, by multiple autosomes multiple ancestral lines may be traced by an individual's 21 autosomes as opposed to one identical mtDNA or Y-DNA sex chromosome, whose inheritance although clinal, demonstrates genetic drift often in statistics. Analyses of autosomal DNA markers gives the best approximation of overall 'relatedness' between populations, presenting a less skewed genetic picture compared to Y-DNA haplogroups. This auDNA data shows that there are no sharp discontinuities or clusters within the European population. Rather there exists a genetic gradient, running mostly in a southeast to northwest direction. A study compared all Slavic nations and combined all lines of evidence, autosomal, maternal and paternal, including more than 6000 people for and at least 700 Bulgarians from previous studies, of which 13 were used for autosomal analysis (right image). The overall data situates the southeastern group (Bulgarians and Macedonians) in a cluster with Romanians, and they are at similar proximity to Gagauzes, Montenegrins and Serbs who are not part of another cluster but are described as 'in between' clusters. [8] Macedonians and Romanians consistently appear to be among the most related to Bulgarians by au, mt, and Y-DNA [8] a conclusion backed also by a pan-European autosomal study investigating 500,568 SNP (loci) of 1,387 Europeans and including 1 or 2 Bulgarians, [56] other more or less extensive data sets situate Bulgarians and Romanians as their nearest . [57] [58] [59] Per HLA-DRB1 allele frequencies Bulgarians are also in a cluster with the same populations. [60] The Balto-Slavic study itself calculated genetic distance by SNP data of the multiple autosomes and ranked most proximal to Bulgarians the Serbs, followed by Macedonians, Montenegrins, Romanians, Gagauzes, Macedonian Greeks apart from Thessaloniki, the rest of the South Slavs, Hungarians, Slovaks, Czechs, and then by Greeks from Thessaloniki, Central Greece and Peloponnese. [8] The East Slavs and Poles cluster together remaining less proximal to Bulgarians than Germans, among whom Slav admixture is also observed. Balts, however, according to the PCA analysis are less proximal to Bulgarians than Italians for example are. [8] Bulgarians are also only modestly close to their eastern neighbours – the Anatolian Turks, suggesting the presence of certain geographic and cultural barriers between them. [61] Despite various invasions of Altaic-speaking peoples in Europe, no significant impact from such Asian descent is recorded throughout southern and central Europe. [62]

Network of 29 populations constructed with the Neighbor-net approach from FST distances based on the variation of autosomal SNPs. Plos Balkans.png
Network of 29 populations constructed with the Neighbor-net approach from FST distances based on the variation of autosomal SNPs.

The study claims that the major part of the Balto-Slavic genetic variation can be primarily attributed to the assimilation of the pre-existing regional genetic components, which differed for present West, East and South Slavic-speaking people. [8] For Slavic peoples correlations with linguistics came out much lower than high correlations with geography. [8] The South Slavic group, despite sharing a common language, is separated and has a largely different genetic past from their northern linguistic relatives. [5] [8] [9] Therefore, for the Bulgarians and most other South Slavs the most plausible explanation would be that their most sizable genetic components were inherited from indigenous Balkan pre-Slavic and pre-Bulgar population. [5] [8] [9] The South Slavs are characterized by featuring NRY hgs I2a and E plus 10% higher Mediterranean k2 autosomal component, while the Eastern and Western Slavs are characterized by the k3 component and hg R1a. [8] The presence of two distinct genetic substrata in the genes of East-West and South Slavs would conclude that assimilation of indigenous populations by bearers of Slavic languages was a major mechanism of the spread of Slavic languages to the Balkan Peninsula. [8]

Southeastern Europeans share large numbers of common ancestors that date roughly to the times of the Slavic expansion around 1,500 years ago. The eastern European populations with high rates of (IBD) are highly coincident with the modern distribution of Slavic languages including Hungary, Romania, Greece and Albania, so it is speculated for Slavic expansion, anyway it was concluded that additional work and methods would be needed to verify this hypothesis. This study detects a considerable connection between Bulgarians and North Slavs that is the result of migrations no earlier than 1500 years ago. [59] A study on genetic admixture filtered to 474,491 autosomal SNPs and including 18 Bulgarians concluded that there is a recent excess of identical by descent sharing in Eastern Europe, and recent period of exchanged segments speculating that this may correspond to the Slavic expansion across this region. A signal at a low frequency among Balkan Slavs was detected that may have been inherited from the medieval Slavic settlers, but it was confirmed that this issue requires further investigation. [8] The short genetic distance of South Slavs does not extend to populations throughout the whole Balkan Peninsula and they are differentiated from all Greek sub-populations that are not Macedonian Greek. [8] The South Slavs share significantly fewer identical by descent segments for length classes with Greeks than with the group of East-West Slavs. [8] Most of the East-West Slavs share as many such segments with the South Slavs as they share with the inter-Slavic populations between them. This might suggest Slavic gene flow across the wide area and physical boundaries such as the Carpathian Mountains, including Hungarians, Romanians and Gagauz. [8] Notably, the number of common ancestors within the last 1,000 to 2,000 years is particularly high within eastern and Slavic-speaking Europe. [63] A high number of shared IBD segments among East Europeans that can be dated to around 1,000–2,000 YBP was revealed. The highest percentage of the total number of shared pairwise IBD segments is detected between the group of East-West Slavs and South Slavs (41% from the total number of IBD segments detected); Baltic speakers, Estonians (40%) and "inter-Slavic" Hungarians, Romanians and Gagauz (37%). East-West Slavs share these segments with Western Europeans (32%), Volga region populations (30) and North Caucasus (21%). South Slavs also share 41% with East-West Slavs and 37% with Inter-Slavic populations, they also share 31% with Western Europeans and 30% with Greeks. However, per one pair of individuals East-West Slavs share more IBD with Balts than with South Slavs, but not with the rest and the same amount with inter-Slavic as with South Slavs. Per one pair of individuals South Slavs keep sharing most IBD with East-South Slavs and the same amount with the inter-Slavic, followed by Greeks and Western Europeans. [8]

Admixture analysis of autosomal SNPs of the Balkan region in a global context on the resolution level of 7 assumed ancestral populations. Plos.Balkans.2.png
Admixture analysis of autosomal SNPs of the Balkan region in a global context on the resolution level of 7 assumed ancestral populations.

For Bulgarians the prevailing donor group in admixture with up to more than 40% are a northeastern group, consistent with the medieval Slav expansion, the date of the admixture event is set at 900-1300 CE. The Slavic frequency of the Bulgarians is determined lower than that of Poles and Hungarians, higher than that of Greeks and roughly the same as Romanians. [7] In the publication by Hellenthal et al., based on a database of 94 modern populations, the authors inferred over 40% of the total autosomal make-up of the Bulgarians to a legacy of the "Slavic (500-900CE)" expansion. [7] The same publication provided the following two analyses on oneway admixture of the Bulgarian autosomal makeup:
1) 46.0% Belarusian-like (including 23.2% Lithuanian, 19.3% Polish, 2.3% Finnish) and 54.0% Cypriot-like (including 14.8% Greek, 12.7% Cypriot, 11.9% Arab, 4.1% Italian, 3.3% Georgian, 2.0% Sardinian, 2.8% Iranian)
2) 59.0% Polish-like (including 54.5% Polish, 4.0% English) and 40.9% Cypriot-like (including 15.3% Cypriot, 14.9% Arab, 3.5% Georgian, 2.4% Sardinian, 1.4% Hezhen, 1.3% Greek). [6]

The genetic diversity among Bulgarians is the reason of more inherited diseases [64] The blood type of 21,568 Bulgarians is 37% A+, 28% 0+, 14% B+, 7% AB+, 6+ A−, 4% 0−, 2% B−, 1% AB−, [65] a distribution similar to Sweden, the Czech Republic and Turkey.

Ancient DNA

A simplified model for recent demographic history of Europeans. The panels indicate a possible demographic scenario consistent with the observed signals. Simplified model for demographic history of Europeans during Neolithic.png
A simplified model for recent demographic history of Europeans. The panels indicate a possible demographic scenario consistent with the observed signals.

Despite the most common haplogroup among Bulgarians being 14000 years old [66] I2a1b at 20%, 8000 years old hunter-gatherer samples of the same haplogroup came out genetically very distant from Bulgarian and Balkan individuals by an autosomal analysis of skeletal remains from Loschbour cave in Luxembourg. [67]

Medieval gene flow within West Eurasia is shown by lines linking the best-matching donor group to the sources of admixture with recipient clusters (arrowhead). Linecolors represent the regional identity of the donor group, and line thickness represents the proportion of DNA coming from the donor group. Ranges of the dates (point estimates) for events involving sources most similar to selected donor groups are shown. Europe DNA 01.jpg
Medieval gene flow within West Eurasia is shown by lines linking the best-matching donor group to the sources of admixture with recipient clusters (arrowhead). Linecolors represent the regional identity of the donor group, and line thickness represents the proportion of DNA coming from the donor group. Ranges of the dates (point estimates) for events involving sources most similar to selected donor groups are shown.
The Impact of Recent Admixture in West Eurasia. Admixture Fig 4A.png
The Impact of Recent Admixture in West Eurasia.
Estimated ancient DNA admixture. Bulgarian: 52% Neolithic farmer (ENF), 32% Western Hunter Gatherer (WHG), 13% Ancestral North Eurasian (ANE). European DNA admixture.png
Estimated ancient DNA admixture. Bulgarian: 52% Neolithic farmer (ENF), 32% Western Hunter Gatherer (WHG), 13% Ancestral North Eurasian (ANE).

Computing the frequency of common point mutations of several mtDNA Thracian remains from South-East of Romania with haplogroups H17, H22 and HV has resulted that the Italian (7.9%), the Albanian (6.3%) and the Greek (5.8%) have shown a bias of closer genetic kinship with the Thracian individuals than the Romanian and Bulgarian individuals (4.2%), but it was noted that more mtDNA sequences from Thracian individuals are needed in order to perform a complex objective statistical analysis. [68] From seven Thracian samples aged about 3 millennia from Gabova Mogila and Shekerdja Mogila in Sliven Province, and from Bereketska Mogila in Stara Zagora Province, two were identified as belonging to mtDNA Haplogroup D, presumably associated with East Asia. Haplogroup W5a was found among two individuals and H1an2. H14b1 was also found. [69] Four samples from Iron Age Bulgaria were studied, the official study confirmed only that the two are male and mtDNA of two individuals - U3b for the Svilengrad man and HV for the Stambolovo individual. Haplogroups U for the Krushare man, U2e for the Vratitsa individual have been identified. Those individuals were from Thracian burial sites and are dated at around 450-1500 BC. [70]

20 samples from medieval Bulgarian sites were alleged as originally Bulgar, but there is no evidence for that. [71] They were from a burial site from the Monastery of Mostich in Preslav, Nozharevo, Tuhovishte and most came out European mtDNA haplogroup H, including H1, H1an2, H1r1, H1t1a1, H2a2a1 H5, H13a2c1, H14b1, HV1, J, J1b1a1, T, T2, U4a2b, U4c1 and U3 with the half belonging to Haplogroup H. It was shown a short genetic distance between these samples and modern Bulgarians. [72]

After at least 20 mediaval(10-14th century) mtDNA samples from Cedynia and Lednica in Poland, possibly Slavic, had been studied, the 855 sampled modern Bulgarians come out overally the closest group to these samples out of 20 other European nations and moreover, they share the highest value of haplotypes with the medieval Polish population more than any other compared nation does. Those medieval haplogroups included H, H1a, K1, K2, X2, X4, HV, J1b, R0a, HV0, H5a1a, N1b, T1a, J1b and W. The samples came out distant from modern Polish population, but nearest to the modern Bulgarian and Czech population. [73] 20 medieval(9-12th century) samples from Slovakian sites Nitra Šindolka and 8 from Čakajovce were compared to modern population and Bulgarians, and Portuguese came out nearest to them by genetic distance, however all these came out distant to modern Slovak population. [74]

Samples from three prehistoric European ancestor groups compared to modern peoples Admixture.png
Samples from three prehistoric European ancestor groups compared to modern peoples

Further evidence from ancient DNA, reconsiderations of mutation rates, and collateral evidence from autosomal DNA growth rates suggest that the major period of European population expansion occurred after the Holocene. Thus the current geographic spread and frequency of haplogroups has been continually shaped from the time of Palaeolithic colonization to beyond the Neolithic. [75] This process of genetic shaping continued into recorded history, such as the Slavic migrations. [76]

Recent studies of ancient DNA have revealed that European populations are largely descending from three ancestral groups. The first one are Paleolithic Siberians, the second one are Paleolithic European hunter-gatherers, and the third one are early farmers and later arrivals from the Near East and West Asia. According to this, Bulgarians are predominantly (52%) descending from early Neolithic farmers spreading the agriculture from Anatolia, and from West Asian Bronze Age invaders and cluster together with other Southern Europeans. Another of the admixture signals in that farmers involves some ancestry related to East Asians, with ~ 2% total Bulgarian ancestry proportion linking to a presence of nomadic groups in Europe, from the time of the Huns to that of the Ottomans. A third signal involves admixture between the North European group from one side and the West Asian - Early farmers' group from another side, at approximately the same time as the East Asian admixture, ca. 850 AD. This event may correspond to the expansion of Slavic language speaking people. The analysis documents the hunter-gatherer admixture in Bulgarians at a level from ca. 1/3. [77] The impact of Yamnaya culture is estimated at 20-30%, which is most common among the Slavs.

A later study published by Cell Press in 2023, focused on demographic developments in the Balkan peninsula during the first millennium CE, also examined the DNA of present-day populations from the Balkans, among them Bulgarians. It determined that present-day Bulgarians, like all other populations in the region, were affected by two major processes that took place following the end of the Iron Age:

Firstly, a 19.3±6.6% of their DNA could be traced to the Bulgarian Early Iron Age natives, another 23.8±7.6% from a Roman-era Balkan population with such Eastern Mediterranean ancestry, additionally, a minor contribution from a Bronze-to-Iron Age expansion in the Balkans, associated with Western Anatolia was given as contributing 5.7±2.9% of the present-day Bulgarian genome. Secondly, a demographic process which was found to have already been underway no later than 700 CE, and brought ancestry akin to that of present-day Eastern European Slavic-speaking populations contributed an even more significant component of the present-day Bulgarian genome, making up - according to the aforementioned model - 51.2±2.2% of present-day Bulgarian ancestry. The researchers also found the presence of two other waves of immigrants during the first half of the research period. One is from Central and Northern Europe, and the other from the steppe zone which stretches from the Northern Black Sea region to Kazakhstan. However, traces of these peoples are almost lost after 700 AD and they do not left a serious DNA mark among the Balkan populations of today. [78]

Paleo DNA

The Bacho Kiro Cave has yielded the oldest human remains ever to be found in Bulgaria which are unrelated to the modern-day Europeans. At one of the earliest known Aurignacian burials (layer 11), two pierced animal teeth were found and ordered into the distinct Bachokiran artifact assemblage. Radiocarbon dated to over 43,000 years ago, they currently represent the oldest known ornaments in Europe. [79] With an approximate age of 46,000 years, [80] human fossils consist of a pair of fragmented mandibles including at least one molar. Whether these early humans were in fact Homo sapiens or Neanderthals was disputed [81] [82] until morphological analysis of a tooth and mitochondrial DNA of bone fragments established that remains were those of Homo sapiens . In samples F6-620 and AA7-738 identified mitochondrial haplogroup M, in samples WW7-240 and CC7-335 determined the mitochondrial haplogroup N, in sample CC7-2289 identified mitochondrial haplogroup R, in sample of BK-1653 identified mitochondrial haplogroup U8. [83] [84]

Three Initial Upper Paleolithic individuals (c. 44,000 to 40,000 years ago) from Bacho Kiro cave were each found to have relatively high levels of Neanderthal ancestry, with their genomes suggesting a recent Neanderthal ancestor in all three individuals perhaps six or seven generations back. In the single dispersal Out of Africa theory, it is believed that populations related to the Initial Upper Palaeolithic population of Bacho Kiro cave contributed ancestry to later Asian populations, because of genetic similarity and to some early West Europeans such as the c. 35,000 year old individual from the Goyet Caves, Belgium, known as 'GoyetQ116-1'. Populations related to these earlier individuals did not contribute detectable ancestry to later European populations. However in the multiple dispersal Out of Africa theory, East Asians are found to have a more distant split time from East African populations (73-88kya) compared to modern Europeans (57-76 kya) [85] which could mean that the Bacho Kiro remains could be from a migration of anatomically modern humans from Asia. [86] [87] In 2022, a study determined that the IUP-affiliated Bacho Kiro remains were part of an Initial Upper Paleolithic wave (>45kya) "ascribed to a population movement with uniform genetic features and material culture" (Ancient East Eurasians), and sharing deep ancestry with other ancient specimens such as the Ust'-Ishim man and the Tianyuan man, as well as ancestors of modern day Papuans (Australasians). The Bacho Kiro population associated with the IUP material culture in Europe went extinct and replaced by the later Upper Paleolithic migration associated with West Eurasians (represented by the Kostenki-14 remains). [88]

See also

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<span class="mw-page-title-main">Genetic history of Europe</span>

The genetic history of Europe includes information around the formation, ethnogenesis, and other DNA-specific information about populations indigenous, or living in Europe.

Haplogroup I-M438, also known as I2, is a human DNA Y-chromosome haplogroup, a subclade of haplogroup I-M170. Haplogroup I-M438 originated some time around 26,000–31,000 BCE. It originated in Europe and developed into several main subgroups: I2-M438*, I2a-L460, I2b-L415 and I2c-L596. The haplogroup can be found all over Europe and reaches its maximum frequency in the Dinaric Alps (Balkans) via founder effect, related to the migrations of the Early Slavs to the Balkan peninsula.

Haplogroup IJ (M429/P125) is a human Y-chromosome DNA haplogroup, an immediate descendant of Haplogroup IJK. IJK is a branch of Haplogroup HIJK.

The genetic history of the British Isles is the subject of research within the larger field of human population genetics. It has developed in parallel with DNA testing technologies capable of identifying genetic similarities and differences between both modern and ancient populations. The conclusions of population genetics regarding the British Isles in turn draw upon and contribute to the larger field of understanding the history of the human occupation of the area, complementing work in linguistics, archaeology, history and genealogy.

<span class="mw-page-title-main">Haplogroup R1a</span> Human Y-chromosome DNA haplogroup

Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to Central Asia, southern Siberia and South Asia.

<span class="mw-page-title-main">Haplogroup R1b</span> Type of paternal lineage

Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup.

<span class="mw-page-title-main">Early Slavs</span> Group of tribal societies, 5th–10th c.

The early Slavs were speakers of Indo-European dialects who lived during the Migration Period and the Early Middle Ages in Central, Eastern and Southeast Europe and established the foundations for the Slavic nations through the Slavic states of the Early and High Middle Ages. The Slavs' original homeland is still a matter of debate due to a lack of historical records; however, scholars generally place it in Eastern Europe, with Polesia being the most commonly accepted location.

Genetic studies of Jews are part of the population genetics discipline and are used to analyze the ancestry of Jewish populations, complementing research in other fields such as history, linguistics, archaeology, and paleontology. These studies investigate the origins of various Jewish ethnic divisions. In particular, they examine whether there is a common genetic heritage among them. The medical genetics of Jews are studied for population-specific diseases.

Population genetics research has been conducted on the ancestry of the modern Turkish people in Turkey. Such studies are relevant for the demographic history of the population as well as health reasons, such as population specific diseases. Some studies have sought to determine the relative contributions of the Turkic peoples of Central Asia, from where the Seljuk Turks began migrating to Anatolia after the Battle of Manzikert in 1071, which led to the establishment of the Anatolian Seljuk Sultanate in the late 11th century, and prior populations in the area who were culturally assimilated during the Seljuk and the Ottoman periods.

<span class="mw-page-title-main">Genetic history of Italy</span>

The genetic history of Italy includes information around the formation, ethnogenesis, and other DNA-specific information about the inhabitants of Italy. Modern Italians mostly descend from the ancient peoples of Italy, including Indo-European speakers and pre-Indo-European speakers. Other groups migrated into Italy as result of the Roman empire, when the Italian peninsula attracted people from the various regions of the empire, and during the Middle Ages with the arrival of Ostrogoths, Longobards, Saracens and Normans among others. Based on DNA analysis, there is evidence of regional genetic substructure and continuity within modern Italy dating back to antiquity.

<span class="mw-page-title-main">Slavic migrations to the Balkans</span> Overview of Slavic migrations to Southeast Europe

Slavs began migrating to Southeastern Europe in the mid-6th century and first decades of the 7th century in the Early Middle Ages. The rapid demographic spread of the Slavs was followed by a population exchange, mixing and language shift to and from Slavic.

Genetic studies on Serbs show close affinity to other neighboring South Slavs.

Population genetics is a scientific discipline which contributes to the examination of the human evolutionary and historical migrations. Particularly useful information is provided by the research of two uniparental markers within our genome, the Y-chromosome (Y-DNA) and mitochondrial DNA (mtDNA), as well as autosomal DNA. The data from Y-DNA and autosomal DNA suggests that the Croats mostly are descendants of the Slavs of the medieval migration period, according to mtDNA have genetic diversity which fits within a broader European maternal genetic landscape, and overall have a uniformity with other South Slavs from the territory of former Yugoslavia.

<span class="mw-page-title-main">Genetic studies on Russians</span>

Genetic studies show that Russians are closest to Poles, Belarusians, Ukrainians and to other Slavs as well as to Estonians, Latvians, Lithuanians, Hungarians.

<span class="mw-page-title-main">Haplogroup R-M269</span> Gene group

Haplogroup R-M269 is the sub-clade of human Y-chromosome haplogroup R1b that is defined by the SNP marker M269. According to ISOGG 2020 it is phylogenetically classified as R1b1a1b. It underwent intensive research and was previously classified as R1b1a2, R1b1c, R1b1b2 and R1b1a1a2.

As with all modern European nations, a large degree of 'biological continuity' exists between Bosnians and Bosniaks and their ancient predecessors with Y chromosomal lineages testifying to predominantly Paleolithic European ancestry. Studies based on bi-allelic markers of the NRY have shown the three main ethnic groups of Bosnia and Herzegovina to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region. Analysis of autosomal STRs have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.

References

  1. "Companion website for "A genetic atlas of human admixture history", Hellenthal et al, Science (2014)". A genetic atlas of human admixture history.
    Hellenthal, Garrett; Busby, George B.J.; Band, Gavin; Wilson, James F.; Capelli, Cristian; Falush, Daniel; Myers, Simon (14 February 2014). "A Genetic Atlas of Human Admixture History". Science . 343 (6172): 747–751. Bibcode:2014Sci...343..747H. doi:10.1126/science.1243518. ISSN   0036-8075. PMC   4209567 . PMID   24531965.
    Hellenthal, G.; Busby, G. B.; Band, G.; Wilson, J. F.; Capelli, C.; Falush, D.; Myers, S. (2014). "Supplementary Material for "A genetic atlas of human admixture history"". Science. 343 (6172): 747–751. Bibcode:2014Sci...343..747H. doi:10.1126/science.1243518. PMC   4209567 . PMID   24531965. S7.6 "East Europe": The difference between the 'East Europe I' and 'East Europe II' analyses is that the latter analysis included the Polish as a potential donor population. The Polish were included in this analysis to reflect a Slavic language speaking source group." "We speculate that the second event seen in our six Eastern Europe populations between northern European and southern European ancestral sources may correspond to the expansion of Slavic language speaking groups (commonly referred to as the Slavic expansion) across this region at a similar time, perhaps related to displacement caused by the Eurasian steppe invaders (38; 58). Under this scenario, the northerly source in the second event might represent DNA from Slavic-speaking migrants (sampled Slavic-speaking groups are excluded from being donors in the EastEurope I analysis). To test consistency with this, we repainted these populations adding the Polish as a single Slavic-speaking donor group ("East Europe II" analysis; see Note S7.6) and, in doing so, they largely replaced the original North European component (Figure S21), although we note that two nearby populations, Belarus and Lithuania, are equally often inferred as sources in our original analysis (Table S12). Outside these six populations, an admixture event at the same time (910CE, 95% CI:720-1140CE) is seen in the southerly neighboring Greeks, between sources represented by multiple neighboring Mediterranean peoples (63%) and the Polish (37%), suggesting a strong and early impact of the Slavic expansions in Greece, a subject of recent debate (37). These shared signals we find across East European groups could explain a recent observation of an excess of IBD sharing among similar groups, including Greece, that was dated to a wide range between 1,000 and 2,000 years ago (37)
  2. Minahan, James (2000). One Europe, many nations: a historical dictionary of European national groups. Greenwood Publishing Group. pp. 134–135. ISBN   9780313309847 . Retrieved 2011-11-13.
  3. Fine, John Van Antwerp (1991). The early medieval Balkans: a critical survey from the sixth to the late twelfth century. University of Michigan Press. p. 308. ISBN   978-0-472-08149-3.
  4. Kopeček, Michal (2007). Balázs Trencsényi (ed.). Discourses of collective identity in Central and Southeast Europe (1770–1945): texts and commentaries. Central European University Press. p. 240. ISBN   978-963-7326-60-8.
  5. 1 2 3 Expansions: Competition and Conquest in Europe Since the Bronze Age, Reykjavíkur Akademían, 2010, ISBN   9979992212, p. 194.
  6. 1 2 "World ancestry".
  7. 1 2 3 4 Garrett Hellenthal et al
  8. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 Kushniarevich, Alena; et al. (2015). "Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data". PLOS ONE. 10 (9): e0135820. Bibcode:2015PLoSO..1035820K. doi: 10.1371/journal.pone.0135820 . PMC   4558026 . PMID   26332464.
  9. 1 2 3 4 Rebala et al. (2007) Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin
  10. Science, 14 February 2014, Vol. 343 no. 6172, p. 751, A Genetic Atlas of Human Admixture History, Garrett Hellenthal at al.: " CIs. for the admixture time(s) overlap but predate the Mongol empire, with estimates from 440 to 1080 CE (Fig.3.) In each population, one source group has at least some ancestry related to Northeast Asians, with ~2 to 4% of these groups total ancestry linking directly to East Asia. This signal might correspond to a small genetic legacy from invasions of peoples from the Asian steppes (e.g., the Huns, Magyars, and Bulgars) during the first millennium CE."
  11. Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry, Karachanak S, Grugni V, Fornarino S, Nesheva D, Al-Zahery N, et al. (2013) Retrieved Oct 2013.
  12. 1 2 3 4 5 6 7 8 9 10 11 12 Karachanak 2013
  13. Varzari 2003 and 2007, Kushniarevich 2015, Noevski 2010, Marjanovic 2005, Mrsic 2012, Todorovic 2014, Vakar et al 2010
  14. "Peopling of Europe 2014 – Identifying the Ghost Population". DNAeXplained - Genetic Genealogy. 2014-10-21.
  15. Rootsi 2004
  16. 1 2 yfull
  17. Karmin M 2015
  18. Underhill 2014
  19. "Славяне и субстрат".
  20. "I-Y3120 YTree". www.yfull.com.
  21. 1 2 3 O.M. Utevska (2017). Генофонд українців за різними системами генетичних маркерів: походження і місце на європейському генетичному просторі [The gene pool of Ukrainians revealed by different systems of genetic markers: the origin and statement in Europe] (PhD) (in Ukrainian). National Research Center for Radiation Medicine of National Academy of Sciences of Ukraine. pp. 219–226, 302.
  22. "I-PH908 YTree v8.06.01". YFull.com. 27 June 2020. Retrieved 17 July 2020.
  23. 1 2 3 Fóthi, E.; Gonzalez, A.; Fehér, T.; et al. (2020), "Genetic analysis of male Hungarian Conquerors: European and Asian paternal lineages of the conquering Hungarian tribes", Archaeological and Anthropological Sciences, 12 (1): 31, Bibcode:2020ArAnS..12...31F, doi: 10.1007/s12520-019-00996-0
  24. Pamjav, Horolma; Fehér, Tibor; Németh, Endre; Koppány Csáji, László (2019). Genetika és őstörténet (in Hungarian). Napkút Kiadó. p. 58. ISBN   978-963-263-855-3. Az I2-CTS10228 (köznevén „dinári-kárpáti") alcsoport legkorábbi közös őse 2200 évvel ezelőttre tehető, így esetében nem arról van szó, hogy a mezolit népesség Kelet-Európában ilyen mértékben fennmaradt volna, hanem arról, hogy egy, a mezolit csoportoktól származó szűk család az európai vaskorban sikeresen integrálódott egy olyan társadalomba, amely hamarosan erőteljes demográfiai expanzióba kezdett. Ez is mutatja, hogy nem feltétlenül népek, mintsem családok sikerével, nemzetségek elterjedésével is számolnunk kell, és ezt a jelenlegi etnikai identitással összefüggésbe hozni lehetetlen. A csoport elterjedése alapján valószínűsíthető, hogy a szláv népek migrációjában vett részt, így válva az R1a-t követően a második legdominánsabb csoporttá a mai Kelet-Európában. Nyugat-Európából viszont teljes mértékben hiányzik, kivéve a kora középkorban szláv nyelvet beszélő keletnémet területeket.
  25. 1 2 (Karachanak 2013)
  26. 1 2 Cruciani 2004
  27. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12". Archived from the original on 2012-07-31.
  28. Lacan 2011
  29. Cruciani
  30. Sarno et al 2015, King et al 2008, Mirabal et al, Petricic et al 2005, Martinez-Cruz 2012
  31. Kayser 2005
  32. 1 2 Underhill, PA; Poznik, GD; Rootsi, S; Järve, M; Lin, AA; Wang, J; Passarelli, B; Kanbar, J; Myres, NM; King, RJ; Di Cristofaro, J; Sahakyan, H; Behar, DM; Kushniarevich, A; Sarac, J; Saric, T; Rudan, P; Pathak, AK; Chaubey, G; Grugni, V; Semino, O; Yepiskoposyan, L; Bahmanimehr, A; Farjadian, S; Balanovsky, O; Khusnutdinova, EK; Herrera, RJ; Chiaroni, J; Bustamante, CD; Quake, SR; Kivisild, T; Villems, R (2015). "European Journal of Human Genetics - Supplementary Information for article: The phylogenetic and geographic structure of Y-chromosome haplogroup R1a". European Journal of Human Genetics. 23 (1): 124–131. doi:10.1038/ejhg.2014.50. PMC   4266736 . PMID   24667786.
  33. Martinez-Cruz 2001
  34. 1 2 https://pp.vk.me/c412329/v412329003/6742/-ALhiG7WYe8.jpg [ bare URL image file ]
  35. The Slavic Languages, Roland Sussex, Paul Cubberley, Publisher Cambridge University Press, 2006, ISBN   1139457284, p. 42.
  36. Hupchick, Dennis P. The Balkans: From Constantinople to Communism. Palgrave Macmillan, 2004. ISBN   1-4039-6417-3
  37. "R-L1029 YTree".
  38. Cruciani 2010
  39. Myles et al
  40. Busby, GB; Brisighelli, F; Sánchez-Diz, P; Ramos-Luis, E; Martinez-Cadenas, C; Thomas, MG; Bradley, DG; Gusmão, L; Winney, B; Bodmer, W; Vennemann, M; Coia, V; Scarnicci, F; Tofanelli, S; Vona, G; Ploski, R; Vecchiotti, C; Zemunik, T; Rudan, I; Karachanak, S; Toncheva, D; Anagnostou, P; Ferri, G; Rapone, C; Hervig, T; Moen, T; Wilson, JF; Capelli, C (2012). "The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269". Proc. Biol. Sci. 279 (1730): 884–92. doi:10.1098/rspb.2011.1044. PMC   3259916 . PMID   21865258.
  41. Marjanovic 2005 et al, Volgi 2008 et al, Martinez Cruz 2012 et al
  42. Cinniouglu et al
  43. Lacan, Marie; Keyser, Christine; Ricaut, François-Xavier; Brucato, Nicolas; Tarrús, Josep; Bosch, Angel; Guilaine, Jean; Crubézy, Eric; Ludes, Bertrand (8 November 2011). "Ancient DNA suggests the leading role played by men in the Neolithic dissemination". Proceedings of the National Academy of Sciences of the United States of America. 108 (45): 18255–18259. Bibcode:2011PNAS..10818255L. doi: 10.1073/pnas.1113061108 . PMC   3215063 . PMID   22042855.
  44. Pedro Soares, Alessandro Achilli, Ornella Semino, William Davies, Vincent Macaulay, Hans-Jürgen Bandelt, Antonio Torroni, and Martin B. Richards, The Archaeogenetics of Europe, Current Biology, vol. 20 (February 23, 2010), R174–R183. yDNA Haplogroup I: Subclade I1, Family Tree DNA,
  45. "Tracing the genetic origin of Europe's first farmers reveals insights into their social organization". bioRxiv   10.1101/008664 .
  46. Voskarides, Konstantinos; Mazières, Stéphane; Hadjipanagi, Despina; Di Cristofaro, Julie; Ignatiou, Anastasia; Stefanou, Charalambos; King, Roy J.; Underhill, Peter A.; Chiaroni, Jacques; Deltas, Constantinos (2016). "Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements". Investigative Genetics. 7: 1. doi: 10.1186/s13323-016-0032-8 . PMC   4750176 . PMID   26870315.
  47. Völgyi et al 2008
  48. Vágó-Zalán Andrea 2012 A magyar populáció genetikai elemzése nemi kromoszómális markerek alapján.
  49. Jakovski; et al. (2011). "Genetic data for 17 Y-chromosomal STR loci in Macedonians in the Republic of Macedonia". Forensic Sci. Int. Genet. 5 (4): e108–e111. doi:10.1016/j.fsigen.2011.04.005. PMID   21549657.
  50. Karachanak 2009
  51. "Bulgarian_Y_Table". Google Docs.
  52. Martinez-Cruz 2012
  53. 1 2 Karachanak 2012
  54. "Family Tree DNA - Bulgarian DNA Project".
  55. Rosser et al. Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language
  56. John Novembre et al. Genes mirror geography within Europe, Nature, 6 November 2008, 456 (7218):98-101.
  57. http://pichoster.net/images/2014/02/13/Eurasia%20PCA.png [ bare URL image file ]
  58. "Ancestry Composition AU, DE, FR & EU - 23andMe".
  59. 1 2 Ralph, P; Coop, G (2013). "The geography of recent genetic ancestry across Europe". PLOS Biol. 11 (5): e1001555. doi: 10.1371/journal.pbio.1001555 . PMC   3646727 . PMID   23667324.
  60. "Greeks - Sub-Saharan Africa - Origin - Arnaiz-Villena".
  61. Novembre 2008, Yanusbaev 2012.
  62. Iosif Lazaridis; et al. "Ancient human genomes suggest three ancestral populations for present-day Europeans". bioRxiv   10.1101/001552 .
  63. Meadows, Robin (2013). "Genomics Recapitulates History in Europe". PLOS Biology. 11 (5). e1001556. doi: 10.1371/journal.pbio.1001556 . PMC   3646723 . PMID   23667325.
  64. Two autosomal recessive neuromuscular disorders – FRDA and LGMD2A, in a single Bulgarian pedigree, Savina Tincheva et al. Scripta Scientifica Medica Vol 47, No 4 (2015). DOI
  65. "Archived copy" (PDF). Archived from the original (PDF) on 2016-06-03. Retrieved 2016-05-07.{{cite web}}: CS1 maint: archived copy as title (link)
  66. "I-M423 YTree".
  67. Lazaridis, Iosif; et al. (2014). "Ancient human genomes suggest three ancestral populations for present-day Europeans". Nature. 513 (7518): 409–413. arXiv: 1312.6639 . Bibcode:2014Natur.513..409L. doi:10.1038/nature13673. PMC   4170574 . PMID   25230663.
  68. G. Cardos, V. Stoian, N. Miritoiu, A. Comsa, A. Kroll, S. Voss, and Alexander Rodewald. "Paleo-mtDNA analysis and population genetic aspects of old Thracian populations from South-East of Romania." Romanian Society of Legal Medicine 12:4 (2004): pages 239-246.
  69. http://www.bulgari-istoria-2010.com/booksBG/AVTOREFERAT%20Desislava%20Nesheva.pdf [ bare URL PDF ]
  70. Carpenter, ML; Buenrostro, JD; Valdiosera, C; Schroeder, H; Allentoft, ME; Sikora, M; Rasmussen, M; Gravel, S; Guillén, S; Nekhrizov, G; Leshtakov, K; Dimitrova, D; Theodossiev, N; Pettener, D; Luiselli, D; Sandoval, K; Moreno-Estrada, A; Li, Y; Wang, J; Gilbert, MT; Willerslev, E; Greenleaf, WJ; Bustamante, CD (2013). "Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries". Am. J. Hum. Genet. 93 (5): 852–64. doi:10.1016/j.ajhg.2013.10.002. PMC   3824117 . PMID   24568772.
  71. Божидар Димитров за изследване на БАН: Копелета, има пари за усвояване! 11.10.2013 г. Новини.Бг.
  72. Mitochondrial DNA Suggests a Western Eurasian origin for Ancient (Proto-) Bulgarians, (2015). Human Biology Open Access Pre-Prints. Paper 69. http://digitalcommons.wayne.edu/humbiol_preprints/69
  73. https://repozytorium.amu.edu.pl/bitstream/10593/2702/1/Anna%20Juras%20Praca%20doktorska.pdf p. 100 Anna Juras, Etnogeneza Słowian w świetle badań kopalnego DNA, Praca doktorska wykonana w Zakładzie Biologii Ewolucyjnej Człowieka Instytutu Antropologii UAM w Poznaniu pod kierunkiem Prof. dr hab. Janusza Piontka
  74. Csákyová, V; Szécsényi-Nagy, A; Csősz, A; Nagy, M; Fusek, G; Langó, P; Bauer, M; Mende, BG; Makovický, P; Bauerová, M (2016). "Maternal Genetic Composition of a Medieval Population from a Hungarian-Slavic Contact Zone in Central Europe (PMC)". PLOS ONE. 11 (3). e0151206. Bibcode:2016PLoSO..1151206C. doi: 10.1371/journal.pone.0151206 . PMC   4786151 . PMID   26963389.
  75. Pinhasi 2012, Ricaut 2012.
  76. Rower 2005, Ralph 2012
  77. Science 14 February 2014, Vol. 343 no. 6172 pp. 747-751, "A Genetic Atlas of Human Admixture History", Garrett Hellenthal at al.
  78. Olalde et al. (2023) (2023). "A genetic history of the Balkans from Roman frontier to Slavic migrations". Cell. 186 (25). Cell Press: 5472–5485.e9. doi:10.1016/j.cell.2023.10.018. PMC   10752003 . PMID   38065079.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  79. Milisauskas, Sarunas (1974). European Prehistory: A Survey. Springer. ISBN   978-1-4419-6633-9 . Retrieved June 8, 2012. One of the earliest dates for an Aurignacian assemblage is greater than 43,000 BP from Bacho Kiro cave in Bulgaria ...
  80. Fewlass, Helen; Talamo, Sahra; Wacker, Lukas; Kromer, Bernd; Tuna, Thibaut; Fagault, Yoann; Bard, Edouard; McPherron, Shannon P.; Aldeias, Vera; Maria, Raquel; Martisius, Naomi L.; Paskulin, Lindsay; Rezek, Zeljko; Sinet-Mathiot, Virginie; Sirakova, Svoboda; Smith, Geoffrey M.; Spasov, Rosen; Welker, Frido; Sirakov, Nikolay; Tsanova, Tsenka; Hublin, Jean-Jacques (11 May 2020). "A 14C chronology for the Middle to Upper Palaeolithic transition at Bacho Kiro Cave, Bulgaria". Nature Ecology & Evolution. 4 (6): 794–801. Bibcode:2020NatEE...4..794F. doi:10.1038/s41559-020-1136-3. hdl: 11585/770560 . PMID   32393865. S2CID   218593433.
  81. Sale, Kirkpatrick (2006). After Eden: The evolution of human domination . Duke University Press. p.  48. ISBN   0822339382 . Retrieved 11 November 2011.
  82. Kuhn, Steven L.; Stiner, Mary C.; Reese, David S.; Güleç, Erksin (19 June 2001). "Ornaments of the earliest Upper Paleolithic: New insights from the Levant". Proceedings of the National Academy of Sciences. 98 (13): 7641–7646. Bibcode:2001PNAS...98.7641K. doi: 10.1073/pnas.121590798 . PMC   34721 . PMID   11390976.
  83. Hublin, Jean-Jacques; Sirakov, Nikolay; Aldeias, Vera; Bailey, Shara; Bard, Edouard; Delvigne, Vincent; Endarova, Elena; Fagault, Yoann; Fewlass, Helen; Hajdinjak, Mateja; Kromer, Bernd; Krumov, Ivaylo; Marreiros, João; Martisius, Naomi L.; Paskulin, Lindsey; Sinet-Mathiot, Virginie; Meyer, Matthias; Pääbo, Svante; Popov, Vasil; Rezek, Zeljko; Sirakova, Svoboda; Skinner, Matthew M.; Smith, Geoff M.; Spasov, Rosen; Talamo, Sahra; Tuna, Thibaut; Wacker, Lukas; Welker, Frido; Wilcke, Arndt; Zahariev, Nikolay; McPherron, Shannon P.; Tsanova, Tsenka (21 May 2020). "Initial Upper Palaeolithic Homo sapiens from Bacho Kiro Cave, Bulgaria" (PDF). Nature. 581 (7808): 299–302. Bibcode:2020Natur.581..299H. doi:10.1038/s41586-020-2259-z. PMID   32433609. S2CID   218592678.
  84. Roland Knauer (May 11, 2020). "Und Homo sapiens war noch früher da". Spektrum. Retrieved May 14, 2020.
  85. López, Saioa; Van Dorp, Lucy; Hellenthal, Garrett (January 2015). "Human Dispersal Out of Africa: A Lasting Debate". Evolutionary Bioinformatics. 11s2 (Suppl 2): 57–68. doi:10.4137/EBO.S33489. PMC   4844272 . PMID   27127403.
  86. Yang, Melinda A. (6 January 2022). "A genetic history of migration, diversification, and admixture in Asia". Human Population Genetics and Genomics: 1–32. doi: 10.47248/hpgg2202010001 .
  87. Evidence of earliest modern humans outside Africa found in China CBC
  88. "Genetics and Material Culture Support Repeated Expansions into Paleolithic Eurasia from a Population Hub Out of Africa". academic.oup.com. Retrieved 2023-11-10.