Genetic studies on Bulgarians
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Bulgarians Bulgarians ( bg, българи, Bǎlgari, ) are a nation and South Slavic ethnic group native to Bulgaria and the rest of Southeast Europe. Etymology Bulgarians derive their ethnonym from the Bulgars. Their name is not completely understo ...
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.Expansions: Competition and Conquest in Europe Since the Bronze Age, Reykjavíkur Akademían, 2010,
p. 194.
/ref> ''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 Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
donor group: to a Polish donor group Bulgarians are of an estimated 59%
Polish Polish may refer to: * Anything from or related to Poland, a country in Europe * Polish language * Poles, people from Poland or of Polish descent * Polish chicken *Polish brothers (Mark Polish and Michael Polish, born 1970), American twin screenwr ...
-like and 41%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
-like admixture; to a Belarusian, Bulgarians are of 46% Belorussian-like and 54%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
-like admixture. 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 The Greeks or Hellenes (; el, Έλληνες, ''Éllines'' ) are an ethnic group and nation indigenous to the Eastern Mediterranean and the Black Sea regions, namely Greece, Cyprus, Albania, Italy, Turkey, Egypt, and, to a lesser extent, oth ...
, inter-Slavic populations (a group of
Romanians The Romanians ( ro, români, ; dated exonym ''Vlachs'') are a Romance languages, Romance-speaking ethnic group. Sharing a common Culture of Romania, Romanian culture and Cultural heritage, ancestry, and speaking the Romanian language, they l ...
, Gagauz), but less with Balts, while the South Slavs share similar number with East and West Slavs, but fewer with Greeks. 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.Rebala et al. (2007

Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin
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. 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. 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 The Bulgars (also Bulghars, Bulgari, Bolgars, Bolghars, Bolgari, Proto-Bulgarians) were Turkic semi-nomadic warrior tribes that flourished in the Pontic–Caspian steppe and the Volga region during the 7th century. They became known as nomad ...
, a consistent very low frequency for Eastern Europe as far as Uralic-speaking
Hungarians Hungarians, also known as Magyars ( ; hu, magyarok ), are a nation and  ethnic group native to Hungary () and historical Hungarian lands who share a common culture, history, ancestry, and language. The Hungarian language belongs to the Urali ...
. The percentage, however, may vary by regions as the less numerous Bulgars were concentrated around the northeast, failing to settle throughout the country's numerous tribes as the significant donor tribes.


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 Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup. It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkirs) and pockets of Central A ...
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. 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 The Eastern Bloc, also known as the Communist Bloc and the Soviet Bloc, was the group of socialist states of Central and Eastern Europe, East Asia, Southeast Asia, Africa, and Latin America under the influence of the Soviet Union that existed du ...
. 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: * Haplogroup I-L460 (I2a) is presented at levels 21.9% Karachanak 2013 according to 808 Bulgarian male samples of the largest-scale study from 2013. By higher levels are defined the profiles of
Ukrainians Ukrainians ( uk, Українці, Ukraintsi, ) are an East Slavs, East Slavic ethnic group native to Ukraine. They are the seventh-largest nation in Europe. The native language of the Ukrainians is Ukrainian language, Ukrainian. The majority ...
and all South Slavs other than Slovenians. Evidence points to European origin for macro- haplogroup I, and Levantine for its immediate ancestor- IJ. Its exclusive and now patchy distribution within Europe suggested a very early entry in to Europe during
Palaeolithic The Paleolithic or Palaeolithic (), also called the Old Stone Age (from Greek: παλαιός ''palaios'', "old" and λίθος ''lithos'', "stone"), is a period in human prehistory that is distinguished by the original development of stone too ...
colonization, which was confirmed by the lack of its ancient DNA outside of the continent and ~13,000 years old European Cro-Magnon remains belonging to I2a. I2a2 is the most frequent haplogroup of European male remains dated to the Metal Ages, while I2a1 and I2a1b are most common in the Mesolithic. as such they were the primary haplogroups of pre-historic European
hunter-gatherer A traditional hunter-gatherer or forager is a human living an ancestrally derived lifestyle in which most or all food is obtained by foraging, that is, by gathering food from local sources, especially edible wild plants but also insects, fungi, ...
s. Initially a Holocene expansion of I2a in Southeastern Europe is supposed; however Dinaric is descended by several 'only child' sublclades and it is suggested that its most recent common ancestor is aged only 2200 yearsyfull making it the youngest and most common micro-group. :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, 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, 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. 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 The Paleolithic or Palaeolithic (), also called the Old Stone Age (from Greek: παλαιός ''palaios'', "old" and λίθος ''lithos'', "stone"), is a period in human prehistory that is distinguished by the original development of stone too ...
settlement in the region, the research by O.M. Utevska (2017) confirmed that the haplogroup STR
haplotype A haplotype ( haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material ( DNA) which is inherited from two parents. Normally these organisms have their DNA or ...
s have the highest diversity in
Ukraine Ukraine ( uk, Україна, Ukraïna, ) is a country in Eastern Europe. It is the second-largest European country after Russia, which it borders to the east and northeast. Ukraine covers approximately . Prior to the ongoing Russian inv ...
, with ancestral STR marker result "DYS448=20" comprising "
Dnieper } The Dnieper () or Dnipro (); , ; . is one of the major transboundary rivers of Europe, rising in the Valdai Hills near Smolensk, Russia, before flowing through Belarus and Ukraine to the Black Sea. It is the longest river of Ukraine and B ...
-
Carpathian The Carpathian Mountains or Carpathians () are a range of mountains forming an arc across Central Europe. Roughly long, it is the third-longest European mountain range after the Urals at and the Scandinavian Mountains at . The range stretches ...
" cluster, while younger derived result "DYS448=19" comprising the "Balkan cluster" which is predominant among the South Slavs. 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 In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using ...
. Utevska calculated that the STR cluster divergence and its secondary expansion from the middle reaches of the Dnieper river or from
Eastern Carpathians Divisions of the Carpathians are a categorization of the Carpathian mountains system. Below is a detailed overview of the major subdivisions and ranges of the Carpathian Mountains. The Carpathians are a "subsystem" of a bigger Alps-Himalaya Sy ...
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. More specifically, the "Balkan cluster" is represented by a single SNP, I-PH908, known as I2a1a2b1a1a1c in
ISOGG The International Society of Genetic Genealogy (ISOGG) is an independent non-commercial nonprofit organization of genetic genealogists run by volunteers. It was founded by a group of surname DNA project administrators in 2005 to promote DNA test ...
phylogenetic tree (2019), and according to YFull YTree it formed and had TMRCA approximately 1,850-1,700 YBP (2nd-3rd century AD). Although it is dominant among the modern Slavic peoples on the territory of the former Balkan provinces of the
Roman Empire The Roman Empire ( la, Imperium Romanum ; grc-gre, Βασιλεία τῶν Ῥωμαίων, Basileía tôn Rhōmaíōn) was the post-Republican period of ancient Rome. As a polity, it included large territorial holdings around the Mediterr ...
, until now it was not found among the samples from the Roman period and is almost absent in contemporary population of
Italy Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical re ...
. 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. 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 Poland, officially the Republic of Poland, is a country in Central Europe. It is divided into 16 administrative provinces called voivodeships, covering an area of . Poland has a population of over 38 million and is the fifth-most populous ...
, is mainly related to the Slavs and their medieval migration, and the "largest demographic explosion occurred in the Balkans". *
Haplogroup E-V68 Haplogroup E-V68, also known as E1b1b1a, is a major human Y-chromosome DNA haplogroup found in North Africa, the Horn of Africa, Western Asia and Europe. It is a subclade of the larger and older haplogroup, known as E1b1b or E-M215 (also roughly ...
(E1b1b1a) is presented at levels 19.6% per 808 samples.(Karachanak 2013) The ultimate origin of E-V68 points to northeastern Africa, specifically near the Nile and Lake Alexandria.Cruciani 2004 Thus this haplogroup represents a more recent
Bronze Age The Bronze Age is a historic period, lasting approximately from 3300 BC to 1200 BC, characterized by the use of bronze, the presence of writing in some areas, and other early features of urban civilization. The Bronze Age is the second pri ...
"out of Africa" movement into Europe via the Balkans. The macro-haplogroup E still prevails in most of the African continent, but through the long-term migrations the sub-Saharian maternal lineage Hg L was lost lacking completely in the Balkans.
Holocene The Holocene ( ) is the current geological epoch. It began approximately 11,650 cal years Before Present (), after the Last Glacial Period, which concluded with the Holocene glacial retreat. The Holocene and the preceding Pleistocene togethe ...
movement into the Near East is proposed, then several thousand years ago, a movement into the Balkans. All V68-positive Bulgarians belong to its M78 subclade, which is the prevailing haplogroup in most of northeast Africa and around the Balkans. The presently mostly European V13 (E1b1b1a1b1a) originated in western Asia according to the most plausible scenario and is presented at ~18% among Bulgarian males. Recent findings of V13 in a Neolithic context in Iberia (dated to ~ 7 kya) give a ''terminus ante quem''. However, it might have really begun to expand in the Balkans somewhat later, perhaps during the population growth of the Bronze Age. It resulted to be the dominant haplogroup in the former Burgas, Lovech, Montana and Razgrad province, from 20% to 38%. Like I-P37 above, it is rather limited to Europe but peaks in the Balkans, only for the
Albanians The Albanians (; sq, Shqiptarët ) are an ethnic group and nation native to the Balkan Peninsula who share a common Albanian ancestry, culture, history and language. They primarily live in Albania, Kosovo, North Macedonia, Montenegro, Se ...
,
Greeks The Greeks or Hellenes (; el, Έλληνες, ''Éllines'' ) are an ethnic group and nation indigenous to the Eastern Mediterranean and the Black Sea regions, namely Greece, Cyprus, Albania, Italy, Turkey, Egypt, and, to a lesser extent, oth ...
, Macedonians, various
Romani Romani may refer to: Ethnicities * Romani people, an ethnic group of Northern Indian origin, living dispersed in Europe, the Americas and Asia ** Romani genocide, under Nazi rule * Romani language, any of several Indo-Aryan languages of the Roma ...
,
Montenegrins Montenegrins ( cnr, Црногорци, Crnogorci, or ; lit. "Black Mountain People") are a South Slavic ethnic group that share a common Montenegrin culture, history, and language, identified with the country of Montenegro. Genetics Accordin ...
,
Serbs The Serbs ( sr-Cyr, Срби, Srbi, ) are the most numerous South Slavic ethnic group native to the Balkans in Southeastern Europe, who share a common Serbian ancestry, culture, history and language. The majority of Serbs live in their na ...
and
Romanians The Romanians ( ro, români, ; dated exonym ''Vlachs'') are a Romance languages, Romance-speaking ethnic group. Sharing a common Culture of Romania, Romanian culture and Cultural heritage, ancestry, and speaking the Romanian language, they l ...
are recorded higher levels than Bulgarians. It has been detected on ancient Thracian remain from Bulgaria. An odd low frequency of Haplogroup E of 10% is recorded in the capital Sofia, which is the lowest on the
Balkan peninsula The Balkans ( ), also known as the Balkan Peninsula, is a geographical area in southeastern Europe with various geographical and historical definitions. The region takes its name from the Balkan Mountains that stretch throughout the who ...
after Croatia and the same level is observed as far as Berlin. *
Haplogroup R-M420 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 southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
(R1a) is identified at 17.6% per 808 samples. It is the dominant group among most Slavs, Balts and Hungarians. The overall evidence suggests that the macro-
haplogroup R Haplogroup R may refer to: * Haplogroup R (mtDNA), a human mitochondrial DNA (mtDNA) haplogroup * Haplogroup R (Y-DNA) Haplogroup R, or R-M207, is a Y-chromosome DNA haplogroup. It is both numerous and widespread amongst modern populations. S ...
arose in southern or central Asia descending from
Haplogroup IJK Haplogroup IJK is a human Y-chromosome DNA haplogroup. IJK is a primary branch of the macrohaplogroup HIJK. Its direct descendants are haplogroup IJ and haplogroup K. Distribution and structure The basal paragroup HIJK* has been found in a Mesol ...
. The subsequent path into Europe, and the major settlement is thought to have happened in the
Bronze Age The Bronze Age is a historic period, lasting approximately from 3300 BC to 1200 BC, characterized by the use of bronze, the presence of writing in some areas, and other early features of urban civilization. The Bronze Age is the second pri ...
by the
Kurgan hypothesis The Kurgan hypothesis (also known as the Kurgan theory, Kurgan model, or steppe theory) is the most widely accepted proposal to identify the Proto-Indo-European homeland from which the Indo-European languages spread out throughout Europe and par ...
, R1a and R1b clades are found at minority levels in Europe since the Mesolithic. It has been revealed that the R1a branch Z282 that is limited to Eastern Europe and separated from their Asian relative ~5000 years ago, makes up 96% of Bulgarian R1a, while the most common branch from China to Anatolia (Z93) makes up the rest 4%. As such, the R1a frequency may only be the result of ultimate descendants of ancient eastern European tribes, namely Balto-Slavs, who are the
early Slavs The early Slavs were a diverse group of tribal societies who lived during the Migration Period and the Early Middle Ages (approximately the 5th to the 10th centuries AD) in Central and Eastern Europe and established the foundations for the S ...
and possibly the
Thracians The Thracians (; grc, Θρᾷκες ''Thrāikes''; la, Thraci) were an Indo-European languages, Indo-European speaking people who inhabited large parts of Eastern Europe, Eastern and Southeast Europe, Southeastern Europe in ancient history.. ...
. Divided by the largest branches, per 880 samples the levels of the branches of R1a are - M458 - 7.4%, CTS1211(Z280) - 7.1%, Z92(Z280) - 1.9% and Z93 - only 0.7%. According to 100 samples M458 carriers constitute 56% of Bulgarian R1a carriers. The Z92 component of the Bulgarians is also much lower than that of the East Slavs and more similar to that of the West. All branches are consistently outnumbered by M458 throughout whole eastern and central Bulgaria. M458 is the dominant R1a clade in the regions roughly corresponding to the area of Bulgarian dialects that share most similarities with Polish dialects, the eastern dialects and the Slavic dialects in Greece. R1a with a prevailing M458 (17%) component makes up the majority in the former Haskovo province with the highest frequency on the Balkan Peninsula (29%), while in the former Montana province it is dominant(23%) with dominant Z280 (19%) component and a drastical drop of the ratio of M458 in the northwest is observed. Deeply traced data reveals that 90% of the sampled Bulgarian carriers of the M458 clade are carriers of the L1029 micro-clade (R1a1a1b1a1b1), which is 2–3,000 years old, and the L1029 clade of M458 alone accounts for 50% of all Bulgarian R1a per ~250 samples.https://pp.vk.me/c412329/v412329003/6742/-ALhiG7WYe8.jpg Some of the phenomena that distinguish ''western and eastern subgroups'' of the South Slavic people and languages can be explained by two separate migratory streams of different tribal groups of the future South Slavs via both: the west and east of the Carpathian Mountains.,The Slavic Languages, Roland Sussex, Paul Cubberley, Publisher Cambridge University Press, 2006, , p. 42. the western Balkans was settled with ''
Sclaveni The ' (in Latin) or ' (various forms in Greek, see below) were early Slavic tribes that raided, invaded and settled the Balkans in the Early Middle Ages and eventually became the progenitors of modern South Slavs. They were mentioned by early Byz ...
'', the east with '' Antes'', and the haplogroup of the Serbo-Croat group is mainly constituted by R1a-L1280 or R1a-CTS3402, while the Macedono-Bulgarian is exclusively made up of the R1a-L1029. R1a of the Bulgarians is for the most part descended likely from the
Polesye Polesia, Polesie, or Polesye, uk, Полісся (Polissia), pl, Polesie, russian: Полесье (Polesye) is a natural and historical region that starts from the farthest edge of Central Europe and encompasses Eastern Europe, including East ...
area because L1029 clade is entirely constituted of two 2100 years old subclades YP417 and YP263, which in turn make up most L1029 in Belarus and Ukraine but not in Poland. *
Haplogroup R-M343 Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup. It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkirs) and pockets of Central A ...
(R1b): present in Bulgarians at 10.7%. R1b is the most frequently occurring haplogroup around
Ural Ural may refer to: *Ural (region), in Russia and Kazakhstan *Ural Mountains, in Russia and Kazakhstan *Ural (river), in Russia and Kazakhstan *Ual (tool), a mortar tool used by the Bodo people of India *Ural Federal District, in Russia *Ural econo ...
and
Chad Chad (; ar, تشاد , ; french: Tchad, ), officially the Republic of Chad, '; ) is a landlocked country at the crossroads of North and Central Africa. It is bordered by Libya to the north, Sudan to the east, the Central African Republic ...
, in most of western Europe and the adjacent islands. A Balkan entry of R1b into Europe is a major theory. The Bulgarian internal structure is heterogeneous and 4% of Bulgarian males carry western European subclades. 3% are carriers of the 'Italo-Atlantic' Proto-Celtic branch P312, of which 2% of U152. Another 1 percent belongs to the U106 branch that corresponds with the spread of Germanic peoples. The ancestral L23 and Z2103 branch show a clear relationship with Anatolia and the Near East. The branch turned to be the dominant clade of the
Yamna culture The Yamnaya culture or the Yamna culture (russian: Ямная культура, ua, Ямна культура lit. 'culture of pits'), also known as the Pit Grave culture or Ochre Grave culture, was a late Copper Age to early Bronze Age archa ...
in far eastern Europe. In addition to the Middle East it is currently the dominant clade of R1b there in parts of central and east Europe. The Bulgarian STR markers are closest to the Romanian. *
Haplogroup J-M172 In human genetics, Haplogroup J-M172 or J2 is a Y-chromosome haplogroup which is a subclade (branch) of haplogroup J-M304. Haplogroup J-M172 is common in modern populations in Western Asia, Central Asia, South Asia, Europe, Northwestern Iran and ...
(J2) is presented at levels 10.5%. Higher levels of it are found as far as Hungarians, Romanians,
Bosniaks The Bosniaks ( bs, Bošnjaci, Cyrillic: Бошњаци, ; , ) are a South Slavic ethnic group native to the Southeast European historical region of Bosnia, which is today part of Bosnia and Herzegovina, who share a common Bosnian ancestry ...
,
Austrians , pop = 8–8.5 million , regions = 7,427,759 , region1 = , pop1 = 684,184 , ref1 = , region2 = , pop2 = 345,620 , ref2 = , region3 = , pop3 = 197,990 , ref3 ...
and
Italians , flag = , flag_caption = The national flag of Italy , population = , regions = Italy 55,551,000 , region1 = Brazil , pop1 = 25–33 million , ref1 = , region2 ...
, while Anatolia and the surroundings are dominated by the group. Whilst its origin is north Levantine, its current pattern reflects more recent events connecting the Aegean and western Anatolia during the Copper and Bronze Ages, as well as Greek and Phoenician colonization around the Mediterranean. Several subclades within J2 are present: J-M410 (J2a) is represented at 6%, Balkan J-M12 (J2b) at 4% up to 11% in Burgas(prevailing). *
Haplogroup G-M201 Haplogroup G (M201) is a human Y-chromosome haplogroup. It is one of two branches of the parent haplogroup GHIJK, the other being HIJK. G-M201 is most commonly found among various ethnic groups of the Caucasus, but is also widely distributed a ...
(G2a) at 4,9%. Ancient G-M201s with sequencing Haplogroup G2a (G-P15) has been identified in Neolithic human remains in Europe dating between 5000 and 3000 BC. Furthermore, the majority of all the male skeletons from the
European Neolithic The European Neolithic is the period when Neolithic (New Stone Age) technology was present in Europe, roughly between 7000 BCE (the approximate time of the first farming societies in Greece) and c.2000–1700 BCE (the beginning of the Bronze Age ...
period have so far yielded Y-DNA belonging to this haplogroup. The oldest skeletons confirmed by ancient DNA testing as carrying haplogroup G2a were five found in the
Avellaner cave Les Planes d'Hostoles is a village and municipality in the province of Girona and autonomous community of Catalonia, Spain. The municipality covers an area of and the population in 2014 was 1,694. From 1900, Les Planes d'Hostoles was linked to Gi ...
burial site in
Catalonia Catalonia (; ca, Catalunya ; Aranese Occitan: ''Catalonha'' ; es, Cataluña ) is an autonomous community of Spain, designated as a ''nationality'' by its Statute of Autonomy. Most of the territory (except the Val d'Aran) lies on the north ...
,
Spain , image_flag = Bandera de España.svg , image_coat = Escudo de España (mazonado).svg , national_motto = ''Plus ultra'' (Latin)(English: "Further Beyond") , national_anthem = (English: "Royal March") , i ...
and were dated by
radiocarbon dating Radiocarbon dating (also referred to as carbon dating or carbon-14 dating) is a method for determining the age of an object containing organic material by using the properties of radiocarbon, a radioactive isotope of carbon. The method was dev ...
to about 5000 BCE. *
Haplogroup I-M253 Haplogroup I-M253, also known as I1, is a Y chromosome haplogroup. The genetic markers confirmed as identifying I-M253 are the SNPs M253,M307.2/P203.2, M450/S109, P30, P40, L64, L75, L80, L81, L118, L121/S62, L123, L124/S64, L125/S65, L157.1, L18 ...
(I1) at 4,3% of which L22, Z58 and Z63. According to a study published in 2010, I-M253 originated between 3,170 and 5,000 years ago, in
Chalcolithic Europe The European Chalcolithic, the Chalcolithic (also Eneolithic, Copper Age) period of Prehistoric Europe, lasted roughly from 5000 to 2000 BC, developing from the preceding Neolithic period. It was a period of Megalithic culture, the appearance o ...
.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,
A 2014 study in Hungary uncovered remains of two individuals from the
Linear Pottery culture The Linear Pottery culture (LBK) is a major archaeological horizon of the European Neolithic period, flourishing . Derived from the German ''Linearbandkeramik'', it is also known as the Linear Band Ware, Linear Ware, Linear Ceramics or Inci ...
, one of whom was found to have carried the M253 SNP which defines Haplogroup I1. This culture is thought to have been present between 7,500 and 6,500 years ago. * Finally, there are also some other Y-DNA Haplogroups presented at a lower levels among Bulgarians ~ 10% all together, as J-M267 (J1) at ~3.5%, E-M34 (E1b1b1b2a1) at ~2%, T-M70 (T1a) at ~1.5%, at less than 1%
Haplogroup C-M217 } Haplogroup C-M217, also known as C2 (and previously as C3), is a Y-chromosome DNA haplogroup. It is the most frequently occurring branch of the wider Haplogroup C (M130). It is found mostly in Central Asia, Eastern Siberia and significant fre ...
(C2), H-M82 (H1a1), N-M231 (N),
Q-M242 Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has one primary subclade, Haplogroup Q1 (L232/S432), which includes numerous subclades that have been sampled and identified in males among modern populations. Q-M242 is the predomin ...
(Q), L-M61 (L),
I-M170 Haplogroup I (M170) is a Human Y-chromosome DNA haplogroup, Y-chromosome DNA haplogroup. It is a subgroup of haplogroup IJ (Y-DNA), haplogroup IJ, which itself is a derivative of the Haplogroup IJK (Y-DNA), haplogroup IJK. Subclades Haplogroup ...
(I*), E-M96 (E*) excl. M35, R-M124 (R2a),
E-M81 E-M215, also known as E1b1b and formerly E3b, is a major human Y-chromosome DNA haplogroup. It is a division of the macro- haplogroup E-M96, which is defined by the single-nucleotide polymorphism (SNP) mutation M215. In other words, it is one of ...
. (E1b1b1b1a), E-M35 (E1b1b1*). Haplogroup frequencies of in Bulgarians'' 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. The largest-scale study of the Hungarians (n=230) determined that 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 Yugoslavs or Yugoslavians ( Bosnian and Croatian: ''Jugoslaveni'', Serbian and Macedonian ''Jugosloveni''/Југословени; sl, Jugoslovani) is an identity that was originally designed to refer to a united South Slavic people. It has ...
as the nearest population to Bulgarians. 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). 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. 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%. 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.


mtDNA

Complementary evidence exists from
mtDNA Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA ...
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%).Karachanak 2012 Like most Europeans, H1 is the prevailing subclade among Bulgarians. 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.Rosser et al

Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language
MtDNA haplgroups of ~1000 Bulgarians: * HV - 49% ** H - 41% *** H5 - 3% ** HV - 4% ** HV0 - 4% * U - 18% ** U1 - 1% ** U2e - 1% ** U3 - 2% ** U4 - 4% ** U5 - 8% *** U5a - 5% *** U5b - 3% ** U6 - 0% ** U7 - 1% ** U8 - <1% * JT - 18% * K - 6% * N - 5% ** N1 - 3% ** N2 - 2% * X - 2% * M - 1% * L - <1% * R0a - <1% * Others - <1%


auDNA and overall


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 Genetic drift, also known as allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and there ...
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 The Romanians ( ro, români, ; dated exonym ''Vlachs'') are a Romance languages, Romance-speaking ethnic group. Sharing a common Culture of Romania, Romanian culture and Cultural heritage, ancestry, and speaking the Romanian language, they l ...
, and they are at similar proximity to Gagauzes,
Montenegrins Montenegrins ( cnr, Црногорци, Crnogorci, or ; lit. "Black Mountain People") are a South Slavic ethnic group that share a common Montenegrin culture, history, and language, identified with the country of Montenegro. Genetics Accordin ...
and
Serbs The Serbs ( sr-Cyr, Срби, Srbi, ) are the most numerous South Slavic ethnic group native to the Balkans in Southeastern Europe, who share a common Serbian ancestry, culture, history and language. The majority of Serbs live in their na ...
who are not part of another cluster but are described as 'in between' clusters. Macedonians and Romanians consistently appear to be among the most related to Bulgarians by au, mt, and Y-DNA 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, other more or less extensive data sets situate Bulgarians and Romanians as their nearest . Per
HLA-DRB1 HLA class II histocompatibility antigen, DRB1 beta chain is a protein that in humans is encoded by the ''HLA-DRB1'' gene. DRB1 encodes the most prevalent beta subunit of HLA-DR. DRB1 alleles, especially those encoding amino acid sequence changes at ...
allele frequencies Bulgarians are also in a cluster with the same populations. 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 Macedonians ( el, Μακεδόνες, ''Makedónes''), also known as Greek Macedonians or Macedonian Greeks, are a regional and historical population group of ethnic Greeks, inhabiting or originating from the Greek region of Macedonia, in Nor ...
apart from
Thessaloniki Thessaloniki (; el, Θεσσαλονίκη, , also known as Thessalonica (), Saloniki, or Salonica (), is the second-largest city in Greece, with over one million inhabitants in its Thessaloniki metropolitan area, metropolitan area, and the capi ...
, the rest of the
South Slavs South Slavs are Slavic peoples who speak South Slavic languages and inhabit a contiguous region of Southeast Europe comprising the eastern Alps and the Balkan Peninsula. Geographically separated from the West Slavs and East Slavs by Austria, Hu ...
, Hungarians, Slovaks, Czechs, and then by Greeks from
Thessaloniki Thessaloniki (; el, Θεσσαλονίκη, , also known as Thessalonica (), Saloniki, or Salonica (), is the second-largest city in Greece, with over one million inhabitants in its Thessaloniki metropolitan area, metropolitan area, and the capi ...
,
Central Greece Continental Greece ( el, Στερεά Ελλάδα, Stereá Elláda; formerly , ''Chérsos Ellás''), colloquially known as Roúmeli (Ρούμελη), is a traditional geographic region of Greece. In English, the area is usually called Central ...
and
Peloponnese The Peloponnese (), Peloponnesus (; el, Πελοπόννησος, Pelopónnēsos,(), or Morea is a peninsula and geographic regions of Greece, geographic region in southern Greece. It is connected to the central part of the country by the Isthmu ...
. The
East Slavs The East Slavs are the most populous subgroup of the Slavs. They speak the East Slavic languages, and formed the majority of the population of the medieval state Kievan Rus', which they claim as their cultural ancestor.John Channon & Robert H ...
and Poles cluster together remaining less proximal to Bulgarians than
Germans , native_name_lang = de , region1 = , pop1 = 72,650,269 , region2 = , pop2 = 534,000 , region3 = , pop3 = 157,000 3,322,405 , region4 = , pop4 = ...
, among whom Slav admixture is also observed. Balts, however, according to the PCA analysis are less proximal to Bulgarians than Italians for example are. Bulgarians are also only modestly close to their eastern neighbours – the Anatolian Turks, suggesting the presence of certain geographic and cultural barriers between them. Despite various invasions of Altaic-speaking peoples in Europe, no significant impact from such Asian descent is recorded throughout southern and central Europe. The study claims that the major part of the
Balto-Slavic The Balto-Slavic languages form a branch of the Indo-European family of languages, traditionally comprising the Baltic and Slavic languages. Baltic and Slavic languages share several linguistic traits not found in any other Indo-European branc ...
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. For Slavic peoples correlations with linguistics came out much lower than high correlations with geography. The South Slavic group, despite sharing a common language, is separated and has a largely different genetic past from their northern linguistic relatives. Therefore, for the Bulgarians and most other
South Slavs South Slavs are Slavic peoples who speak South Slavic languages and inhabit a contiguous region of Southeast Europe comprising the eastern Alps and the Balkan Peninsula. Geographically separated from the West Slavs and East Slavs by Austria, Hu ...
the most plausible explanation would be that their most sizable genetic components were inherited from indigenous
Balkan The Balkans ( ), also known as the Balkan Peninsula, is a geographical area in southeastern Europe with various geographical and historical definitions. The region takes its name from the Balkan Mountains that stretch throughout the who ...
pre-Slavic and pre-Bulgar population. 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. 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. 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. 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. 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. The South Slavs share significantly fewer identical by descent segments for length classes with Greeks than with the group of East-West Slavs. 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. Notably, the number of common ancestors within the last 1,000 to 2,000 years is particularly high within eastern and Slavic-speaking Europe. 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. 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.Garrett Hellenthal et al
/ref> 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. The same publication provided the following two analyses on oneway admixture of the Bulgarian autosomal makeup:
1) 46.0% Belorussian-like (including 23.2%
Lithuanian Lithuanian may refer to: * Lithuanians * Lithuanian language * The country of Lithuania * Grand Duchy of Lithuania * Culture of Lithuania * Lithuanian cuisine * Lithuanian Jews as often called "Lithuanians" (''Lita'im'' or ''Litvaks'') by other Jew ...
, 19.3%
Polish Polish may refer to: * Anything from or related to Poland, a country in Europe * Polish language * Poles, people from Poland or of Polish descent * Polish chicken *Polish brothers (Mark Polish and Michael Polish, born 1970), American twin screenwr ...
, 2.3% Finnish) and 54.0%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
-like (including 14.8%
Greek Greek may refer to: Greece Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group. *Greek language, a branch of the Indo-European language family. **Proto-Greek language, the assumed last common ancestor ...
, 12.7%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
, 11.9%
Arab The Arabs (singular: Arab; singular ar, عَرَبِيٌّ, DIN 31635: , , plural ar, عَرَب, DIN 31635: , Arabic pronunciation: ), also known as the Arab people, are an ethnic group mainly inhabiting the Arab world in Western Asia, ...
, 4.1%
Italian Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Ita ...
, 3.3%
Georgian Georgian may refer to: Common meanings * Anything related to, or originating from Georgia (country) ** Georgians, an indigenous Caucasian ethnic group ** Georgian language, a Kartvelian language spoken by Georgians **Georgian scripts, three scrip ...
, 2.0% Sardinian, 2.8%
Iranian Iranian may refer to: * Iran, a sovereign state * Iranian peoples, the speakers of the Iranian languages. The term Iranic peoples is also used for this term to distinguish the pan ethnic term from Iranian, used for the people of Iran * Iranian lan ...
)
2) 59.0%
Polish Polish may refer to: * Anything from or related to Poland, a country in Europe * Polish language * Poles, people from Poland or of Polish descent * Polish chicken *Polish brothers (Mark Polish and Michael Polish, born 1970), American twin screenwr ...
-like (including 54.5%
Polish Polish may refer to: * Anything from or related to Poland, a country in Europe * Polish language * Poles, people from Poland or of Polish descent * Polish chicken *Polish brothers (Mark Polish and Michael Polish, born 1970), American twin screenwr ...
, 4.0%
English English usually refers to: * English language * English people English may also refer to: Peoples, culture, and language * ''English'', an adjective for something of, from, or related to England ** English national ide ...
) and 40.9%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
-like (including 15.3%
Cypriot Cypriot (in older sources often "Cypriote") refers to someone or something of, from, or related to the country of Cyprus. * Cypriot people, or of Cypriot descent; this includes: **Armenian Cypriots **Greek Cypriots **Maronite Cypriots **Turkish C ...
, 14.9%
Arab The Arabs (singular: Arab; singular ar, عَرَبِيٌّ, DIN 31635: , , plural ar, عَرَب, DIN 31635: , Arabic pronunciation: ), also known as the Arab people, are an ethnic group mainly inhabiting the Arab world in Western Asia, ...
, 3.5%
Georgian Georgian may refer to: Common meanings * Anything related to, or originating from Georgia (country) ** Georgians, an indigenous Caucasian ethnic group ** Georgian language, a Kartvelian language spoken by Georgians **Georgian scripts, three scrip ...
, 2.4% Sardinian, 1.4%
Hezhen The Nanai people are a Tungusic people of East Asia who have traditionally lived along Heilongjiang (Amur), Songhuajiang (Sunggari) and Wusuli River on the Middle Amur Basin. The ancestors of the Nanai were the Jurchens of northernmost Manch ...
, 1.3%
Greek Greek may refer to: Greece Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group. *Greek language, a branch of the Indo-European language family. **Proto-Greek language, the assumed last common ancestor ...
). The genetic diversity among Bulgarians is the reason of more inherited diseases The
blood type A blood type (also known as a blood group) is a classification of blood, based on the presence and absence of antibodies and inherited antigenic substances on the surface of red blood cells (RBCs). These antigens may be proteins, carbohydrate ...
of 21,568 Bulgarians is 37% A+, 28% 0+, 14% B+, 7% AB+, 6+ A−, 4% 0−, 2% B−, 1% AB−, a
distribution Distribution may refer to: Mathematics *Distribution (mathematics), generalized functions used to formulate solutions of partial differential equations * Probability distribution, the probability of a particular value or value range of a vari ...
similar to Sweden, the Czech Republic and Turkey.


Ancient DNA

Despite the most common haplogroup among Bulgarians being 14000 years old 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. Computing the frequency of common point mutations of several mtDNA Thracian remains from 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. From seven Thracian samples aged about 3 millennia from Gabova Mogila and Shekerdja Mogila in
Sliven Province Sliven Province ( bg, Област Сливен, former name Sliven okrug) is a province in southeastern Bulgaria, named after its administrative and industrial centre—the city of Sliven. It embraces a territory of Stara Zagora Province Stara Zagora ( bg, Област Стара Загора), formerly known as the Stara Zagora okrug, is a province of south-central Bulgaria. It is named after its administrative and industrial centre—the city of Stara Zagora—the sixt ...
, 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. 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 Svilengrad ( bg, Свиленград; el, Σβίλενγκραντ; ota, Cisr-i Mustafapaşa) is a town in Haskovo Province, south-central Bulgaria, situated at the border of Bulgaria, Turkey and Greece. It is the administrative centre of the h ...
man and HV for the Stambolovo individual. Haplogroups U for the
Krushare Krushare ( bg, Крушаре) is a village in Bulgaria. It is situated in Sliven Municipality, Sliven Province Sliven Province ( bg, Област Сливен, former name Sliven okrug) is a province in southeastern Bulgaria, named after it ...
man, U2e for the
Vratitsa Vratitsa is a village in Kameno Municipality, in Burgas Province, in southeastern Bulgaria Bulgaria (; bg, България, Bǎlgariya), officially the Republic of Bulgaria,, ) is a country in Southeast Europe. It is situated on the eas ...
individual have been identified. Those individuals were from Thracian burial sites and are dated at around 450-1500 BC. 20 samples from medieval Bulgarian sites were alleged as originally Bulgar, but there is no evidence for that. They were from a burial site from the Monastery of
Mostich Mostich ( bg, Мостич, Old Church Slavonic, Old Bulgarian: МОСТИЧЬ) was a high-ranking official in the 10th-century First Bulgarian Empire, during the rule of Simeon I of Bulgaria, Simeon I and Peter I of Bulgaria, Peter I. He bore t ...
in
Preslav The modern Veliki Preslav or Great Preslav ( bg, Велики Преслав, ), former Preslav ( bg, link=no, Преслав; until 1993), is a city and the seat of government of the Veliki Preslav Municipality (Great Preslav Municipality, new B ...
, 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. After at least 20 mediaval(10-14th century) mtDNA samples from
Cedynia Cedynia (pronounced ; german: Zehden, la, Cedene) is a small historic town in Poland, and the administrative seat of Gmina Cedynia in Gryfino County, West Pomeranian Voivodeship. It is situated close to the Oder river and the border with Germa ...
and Lednica in
Poland Poland, officially the Republic of Poland, is a country in Central Europe. It is divided into 16 administrative provinces called voivodeships, covering an area of . Poland has a population of over 38 million and is the fifth-most populous ...
, 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.https://repozytorium.amu.edu.pl/bitstream/10593/2702/1/Anna%20Juras%20Praca%20doktorska.pdf p. 10

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
20 medieval(9-12th century) samples from Slovakian sites Nitra Šindolka and 8 from
Čakajovce Čakajovce is a village and municipality in the Nitra District in western central Slovakia, in the Nitra Region. History In historical records the village was first mentioned in 1251. Geography The village lies at an altitude of 146 metres and c ...
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. 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. This process of genetic shaping continued into recorded history, such as the Slavic migrations. 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 A traditional hunter-gatherer or forager is a human living an ancestrally derived lifestyle in which most or all food is obtained by foraging, that is, by gathering food from local sources, especially edible wild plants but also insects, fungi, ...
, 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.''Science'' 14 February 2014, Vol. 343 no. 6172 pp. 747-751, "A Genetic Atlas of Human Admixture History", Garrett Hellenthal at al. The impact of
Yamnaya culture The Yamnaya culture or the Yamna culture (russian: Ямная культура, ua, Ямна культура literal translation, lit. 'culture of pits'), also known as the Pit Grave culture or Ochre Grave culture, was a late Copper Age to ea ...
is estimated at 20-30%, which is most common among the Slavs.


See also

*
Genetic studies on Serbs Genetic studies on Serbs show close affinity to other neighboring South Slavs. Y-DNA Y-chromosomal haplogroups identified among the Serbs from Serbia and near countries are the following with respective percentages: I2a (36.6-42%), E1b1b (16.5- ...
*
Genetic studies on Croats 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- ...
*
Genetic history of Europe The Genetic history of Europe deals with the formation, ethnogenesis, and other DNA-specific information about populations indigenous, or living in Europe. The most significant recent dispersal of modern humans from Africa gave rise to an u ...


References


External links


HLA-DRB1_DQA1_DQB1_polymorphism_in_the_Bulgarian_population
{{DEFAULTSORT:Genetic Studies On Bulgarians
Bulgaria Bulgaria (; bg, България, Bǎlgariya), officially the Republic of Bulgaria,, ) is a country in Southeast Europe. It is situated on the eastern flank of the Balkans, and is bordered by Romania to the north, Serbia and North Macedon ...
Bulgarians Bulgarians ( bg, българи, Bǎlgari, ) are a nation and South Slavic ethnic group native to Bulgaria and the rest of Southeast Europe. Etymology Bulgarians derive their ethnonym from the Bulgars. Their name is not completely understo ...
Bulgarians Bulgarians ( bg, българи, Bǎlgari, ) are a nation and South Slavic ethnic group native to Bulgaria and the rest of Southeast Europe. Etymology Bulgarians derive their ethnonym from the Bulgars. Their name is not completely understo ...
Bulgarians Bulgarians ( bg, българи, Bǎlgari, ) are a nation and South Slavic ethnic group native to Bulgaria and the rest of Southeast Europe. Etymology Bulgarians derive their ethnonym from the Bulgars. Their name is not completely understo ...