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. 2013;8(3):e56779.
doi: 10.1371/journal.pone.0056779. Epub 2013 Mar 6.

Y-chromosome diversity in modern Bulgarians: new clues about their ancestry

Sena Karachanak  1 , Viola Grugni, Simona Fornarino, Desislava Nesheva, Nadia Al-Zahery, Vincenza Battaglia, Valeria Carossa, Yordan Yordanov, Antonio Torroni, Angel S Galabov, Draga Toncheva, Ornella Semino
Affiliations

Y-chromosome diversity in modern Bulgarians: new clues about their ancestry

Sena Karachanak et al. PLoS One. 2013.

Abstract

To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. 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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Map of Bulgaria outlining the former administrative provinces within which samples were allocated.
The provinces are indicated as follows: 1. Burgas; 2. Varna; 3. Lovech; 4. Montana; 5. Plovdiv; 6. Razgrad; 7. Sofia City; 8. Sofia Province and 9. Haskovo.
Figure 2
Figure 2. Phylogenetic relationships and percent frequencies of Y-chromosome haplogroups in each of the former provinces and in Bulgarians as a whole.
The following markers: M2 (within Hg E), M365, M367, M368, M390 (within Hg J), M120, M323 (within Hg Q) and M529 (within Hg R) were typed but not observed.
Figure 3
Figure 3. Principal components plots based on Y-chromosome haplogroup frequencies.
(A) African and Eurasian populations analyzed at the highest level of phylogenetic resolution, (B) Bulgaria in the European context, at a lower level of phylogenetic resolution, and (C) Bulgaria in the Asian context, based only on informative Asian markers. Data and abbreviations are provided in Tables 2–4. Numbers in brackets indicate the proportion of the total genetic information retained by a given PC. Inset plot illustrates the contribution of each haplogroup.
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