Presentation Abstract

Title: P10.80 - Y-Chromosome genetic variation of modern Bulgarians
Keywords: Y-chromosome; haplogroup; Bulgaria
Authors: S. Karachanak1,2, V. Grugni2, D. Nesheva1, V. Battaglia2, S. Fornarino2,3, N. Al-Zahery2, V. Carossa2, Y. Yordanov4, A. Galabov5, B. Atanasov6, A. Torroni2, D. Toncheva1, O. Semino2;
1Department of Medical Genetics, Medical Faculty, Medical University, Sofia, Bulgaria, Sofia, Bulgaria, 2Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy, Pavia, Italy, 3Human Evolutionary Genetics, CNRS URA 3012, Institut Pasteur, Paris, France, Paris, France, 4Institute of Experimental Morphology and Anthropology with Museum-Bulgarian Academy of Sciences, Sofia, Bulgaria, Sofia, Bulgaria, 5The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, Sofia, Bulgaria, Sofia, Bulgaria, 6Institute of Organic Chemistry, Bulgarian Academy of Sciences, Sofia, Bulgaria, Sofia, Bulgaria.
Abstract Body: To date, Bulgarian Y chromosomes have been studied only in macrogeographic context or in the lineage-based approach. Therefore, 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.
The genotyping of 60 biallelic markers was performed in hierarchical order by RFLP and DHPLC analyses. The position of Bulgarians among other populations was visualized by Principal Component (PC) analysis.
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.