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 classification was carried out according to the most updated criteria as reported by van Oven and Kayser (Hum Mutat 30:386–394, 2009), allowing the identification of 45 mitochondrial clades. 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.
Human mitochondrial DNA Haplogroup Bulgarians Origin of Europeans
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We are grateful to all the donors for providing blood samples and to R. Stoykov, M.D., and the local staff of the Military Blood Transfusion Center at the Military Medical Academy in Sofia chaired by Prof. S. Tonev for their help during the blood sample collection. We thank Prof. P. Dobrev for their useful comments and Mrs. Maria Teresa Pozzi for the graphical help. This research received financial support from Fondazione Alma Mater Ticinensis (to AT and OS), the Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2009 (to AT, OS e AA), FIRB-Futuro in Ricerca 2008 (to AA and AO), and National Science Fund of Bulgaria, project “Characterization of the anthropo-genetic identity of Bulgarians”, contract number DO 02-110/22.05.2009.
The study was approved by the Bioethics Committee of the University of Pavia, Board minutes of the 5th of October 2010.
Conflicts of interest
The authors declare that they have no conflicts of interest.
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