Bulgarian Genetics: Abstracts and Summaries

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Bulgaria is a country in the southeastern Balkans. The Bulgarian people speak a South Slavic language and descend from a combination of Slavs and Thracians with a small amount of ancestry from the Turkic-speaking Bulgars who founded the country. Both their Y-DNA (paternal genetics) and mtDNA (maternal genetics) show the Bulgarians to be related to their neighbors the Macedonians, Serbs, Romanians, Greeks, and Albanians.

The approximate distribution of Y-DNA haplogroups among the Bulgarian people runs as follows:
16% E1b1b
1% G2a
3% I1
20% I2a (very common among South Slavic peoples)
1% I2b
20% J2
1% Q
18% R1a
18% R1b
1% T

Here are mtDNA haplogroups found among Bulgarians:
38% H (of which 10% are in the subclades H1 and H3 combined)
10% J
6.5% T
20% U (of which 10% are in U3, 6.5% in U4, and 3.5% in U5)
13% K
6% X2
6.5% other haplogroups

Major studies of Bulgarians

Sena Karachanak, Viola Grugni, Simona Fornarino, Desislava Nesheva, Nadia Al-Zahery, Vincenza Battaglia, Valeria Carossa, Yordan Yordanov, Antonio Torroni, Angel S. Galabov, Draga Toncheva, and Ornella Semino. "Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry." PLoS ONE 8:3 (March 6, 2013): e56779. Following its presentation at conferences in the years 2011 and 2012 (see further below), this Y-DNA study has now been released as an electronic open-access publication. The number of Bulgarian males in the final report is 808, not the 809 or 812 they counted at the conferences, so there must have been problems with 4 of the samples. The study declares, "Only individuals whose fathers were of Bulgarian origin and were born in the country were included in the study." Excerpts from the Abstract:

"[...] We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with ~ 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible."

Sena Karachanak, Viola Grugni, Desislava Nesheva, N. Al-Zahery, Vincenza Battaglia, C. Nici, Valeria Carossa, Yordan Yordanov, Antonio Torroni, Angel S. Galabov, Ornella Semino, and Draga Toncheva. "A Y-chromosome portrait of modern Bulgarians as viewed from different spatiotemporal aspects." A paper to be presented at The European Human Genetics Conference 2012 in Nuremberg, Germany, June 23-26, 2012. The sample size was 809 Bulgarian males and the testing involved only their Y-DNA. Some of the detected Y-DNA haplogroups included E-V13, J-M241, R-M458, R-L23, and I-M423. Below are excerpts from the abstract, which was made available shortly before the conference:

"[...] We found that the Bulgarian Y chromosome gene pool is primarily contained within haplogroups common in Europe and surrounding areas. Furthermore, when patrilineal relationships are visualized in a broader context by principal component analysis, Bulgarians are located among European populations. The analysis of molecular variance shows that the genetic variation within the country is structured among Western, Central and Eastern Bulgaria, rather than among the Black Sea coast, the Danubian Plane, Thrace and the Southwest mountainous region; which indicates that the Balkan Mountains have been permeable to human movements. [...] In general, the Y-STR data reveal that different prehistoric and historic events have left detectable traces in the Bulgarian Y chromosome gene pool."

Sena Karachanak, Viola Grugni, Desislava Nesheva, Vincenza Battaglia, S. Fornarino, N. Al-Zahery, Valeria Carossa, Yordan Yordanov, Angel S. Galabov, B. Atanasov, Antonio Torroni, Draga Toncheva, and Ornella Semino. "Y-Chromosome genetic variation of modern Bulgarians." A presentation at the European Human Genetics Conference 2011, Amsterdam, the Netherlands, May 28-31, 2011. Excerpts from the presentation abstract:

"[...] in order to comprehensively characterize Bulgarian Y-chromosome variation, we have performed high-resolution phylogenetic analysis of 812 healthy, unrelated Bulgarian males and compared the results with Y-chromosome data from other Eurasian populations. [...] About 80% of the total genetic variation in Bulgarians falls within haplogroups E-M35, I-M170, J-M172, R-M17 and R-M269. This finding shows that the Bulgarian haplogroup profile is congruent with those described for most European populations. Among the prehistoric events marked by the observed haplogroups, the greatest contribution comes from the range expansion of local Mesolithic foragers triggered by adoption of agriculture introduced by a cadre of Near Eastern farmers. The Bulgarian Y chromosome gene pool also bears signals of the recolonization from different glacial refugia, the spread of agriculture from the Near East and the expansion of early farmers along the Central and East European river basins. As for the interpopulation analysis, similarly to mtDNA, Bulgarians belong to the cluster of European populations, still being slightly distant from them. Bulgarians are distant from Turks (despite geographical proximity), Arabic and Caucasus populations and Indians. These trends in the PCA graph likely reflect not only prehistoric, but also more recent demographic events that have shaped the Y chromosome structure of modern Bulgarians."

Sena Karachanak, Valeria Carossa, Desislava Nesheva, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Viola Grugni, Vincenza Battaglia, Alessandro Achilli, Yordan Yordanov, Angel S. Galabov, Ornella Semino, Draga Toncheva, and Antonio Torroni. "Bulgarians vs the other European populations: a mitochondrial DNA perspective." International Journal of Legal Medicine (released electronically in advance of print publication, June 15, 2011). Abstract:

"To define the matrilineal relationships between Bulgarians and other European populations, we have evaluated the mitochondrial DNA (mtDNA) variation in a sample of 855 Bulgarian subjects from the mtDNA perspective. The molecular survey was performed by sequencing -750 bp of the control region, which resulted in 557 different haplotypes, and by a subsequent restriction fragment length polymorphism analysis to confirm haplogroup/subhaplogroup affiliation. [...] The observed pattern of mtDNA variation indicates that the Bulgarian mitochondrial pool is geographically homogeneous across the country, and that is characterized by an overall extremely high frequency of western Eurasian lineages. In the principal component analysis, Bulgarians locate in an intermediate position between Eastern European and Mediterranean populations, which is in agreement with historical events. Thus, while the Mediterranean legacy could be attributed to the Thracians, indigenous people that firstly inhabited the Balkans, the Eastern contribution is likely due to the Proto-Bulgarians originating from the Middle East and to the Slavs migrating from northeast Europe."

A. Horvath, V. Chorbov, B. Zaharova, and V. Ganev. "Five polymorphisms of the apolipoprotein B gene in healthy Bulgarians." Human Biology 75:1 (February 2003): pages 69-80.

M. Ivanova, E. Rozemuller, N. Tyufekchiev, A. Michailova, M. Tilanus, and E. Naumova. "HLA polymorphism in Bulgarians defined by high-resolution typing methods in comparison with other populations." Tissue Antigens 60:6 (December 2002): pages 496-504. Abstract excerpts:

"Phylogenetic and correspondence analyses showed that Bulgarians are more closely related to Macedonians, Greeks, and Romanians than to other European populations and Middle Eastern people living near the Mediterranean. The HLA-A,-B,-DRB1 allele and haplotype diversity defined by high-resolution DNA methods confirm that the Bulgarian population is characterized by features of southern European anthropological type with some influence of additional ethnic groups."

M. Ivanova, P. Spassova, A. Michailova, and E. Naumova. "Distributions of HLA class I alleles and haplotypes in Bulgarians - contribution to understanding the origin of the population." Tissue Antigens 57:3 (March 2001): pages 208-215. Abstract excerpts:

"This is further supported by the analysis of HLA class I haplotypes in Bulgarians. Most of them are also common in Europe. However their frequency pattern in Bulgarians is similar to the South European populations. The presence of some rare alleles and haplotypes indicated Asian genetic inflow. On the basis of HLA class I profile and supported by historical and anthropological data, we suggest that the Bulgarian population is characterized by the features of the Southern European anthropological type with some influence of other groups such as Asians, Turks, Armenians."

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12." Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. This large study of populations from Europe, Asia, and Africa confirmed that all signs point to the Y-DNA haplogroup E-M78 (E1b1b1a1) having come from northeastern Africa originally. Naturally, due to geographical proximity to Africa, E haplogroups are more common in southern Europe than northern Europe. 204 Bulgarian males had their Y-DNA data incorporated into "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" which says that 16.67% of them (that is, 34 out of the 204) placed into E-M78, 0.49% (just one person) into E-V12*, and 16.18% (33 individuals) into E-V13.

T. A. Suslova, A. L. Burmistrova, M. S. Chernova, E. B. Khromova, E. I. Lupar, S. V. Timofeeva, I. V. Devald, M. N. Vavilov, and C. Darke. "HLA gene and haplotype frequencies in Russians, Bashkirs and Tatars, living in the Chelyabinsk Region (Russian South Urals)." International Journal of Immunogenetics 39:5 (October 2012): pages 394-408. First published electronically on April 20, 2012. A long-standing debate concerns whether modern Bulgarians, Chuvashes, and Volga Tatars share a common pool of medieval Volga Bulgar ancestors. This study suggests that they do. Excerpts from the Abstract:

"[...] Some aspects of HLA in Tatars appeared close to Chuvashes and Bulgarians, thus supporting the view that Tatars may be descendents of ancient Bulgars."

Garrett Hellenthal, George B. J. Busby, Gavin Band, James F. Wilson, Cristian Capelli, Daniel Falush, and Simon Myers. "A Genetic Atlas of Human Admixture History." Science 343:6172 (February 14, 2014): pages 747-751. Companion website. Includes 18 Bulgarian samples and admixture analysis of them.

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