Alexander Varzari et al., Paleo-Balkan and Slavic Contributions to the Genetic Pool of Moldavians: Insights from the Y Chromosome. PLoS ONE 2013. Open access → LINK [doi:10.1371/journal.pone.0053731]
Moldova has a rich historical and cultural heritage, which may be reflected in the current genetic makeup of its population. To date, no comprehensive studies exist about the population genetic structure of modern Moldavians. To bridge this gap with respect to paternal lineages, we analyzed 37 binary and 17 multiallelic (STRs) polymorphisms on the non-recombining portion of the Y chromosome in 125 Moldavian males. In addition, 53 Ukrainians from eastern Moldova and 54 Romanians from the neighboring eastern Romania were typed using the same set of markers. In Moldavians, 19 Y chromosome haplogroups were identified, the most common being I-M423 (20.8%), R-M17* (17.6%), R-M458 (12.8%), E-v13 (8.8%), R-M269* and R-M412* (both 7.2%). In Romanians, 14 haplogroups were found including I-M423 (40.7%), R-M17* (16.7%), R-M405 (7.4%), E-v13 and R-M412* (both 5.6%). In Ukrainians, 13 haplogroups were identified including R-M17 (34.0%), I-M423 (20.8%), R-M269* (9.4%), N-M178, R-M458 and R-M73 (each 5.7%). Our results show that a significant majority of the Moldavian paternal gene pool belongs to eastern/central European and Balkan/eastern Mediterranean Y lineages. Phylogenetic and AMOVA analyses based on Y-STR loci also revealed that Moldavians are close to both eastern/central European and Balkan-Carpathian populations. The data correlate well with historical accounts and geographical location of the region and thus allow to hypothesize that extant Moldavian paternal genetic lineages arose from extensive recent admixture between genetically autochthonous populations of the Balkan-Carpathian zone and neighboring Slavic groups.
|Table 2 – Kharahasani is located to the South and Sofia to the North, the Romanian and Ukranian samples are both from nearby regions (Romanian Moldavia and Transistrian Ukranians).|
- The high diversity of haplogroup I (also in nearby Romania and Ukraine), including I1-M253, I2a1b-M423 and I2a2-M223 is consistent with the wider region being, arguably, ancestral to this lineage. However “Low Germanic” I2b does not show up, as doesn’t “West Mediterranean” I2a1a nor Anatolian-Caucasian I2a*.
- Among Neolithic-specific inputs, which are particularly important in the Balcans, Moldovans show notable (13%) presence of E1b1b1a1-M78 variants, especially the well studied E1b1b1a1b-V13, related now even by ancient DNA to European Neolithic flows. They also have some (2%) E1b1b1b2a-M123, an Eastern and NE African lineage found at low frequencies in Southern Europe.
- Another clearly Neolithic lineage is G2a-P15, found among Moldovans only at very low frequencies (more common in the context of the Mediterranean Neolithic it seems).
- Not yet documented by aDNA but also likely Neolithic in Europe is haplogroup J, found in Europe mostly as J2 (originating in Highland West Asia) but also, mostly in the Balcans, as J1 (originating maybe in Palestine). Moldovans show both at low frequencies (4% each).
- Almost all the rest belongs to the largest European clade, R, mostly its Eastern variant R1a1a-M17 (30%). Western R1b1a2-M269 makes up 16%.
- Minor clades are H (Romani), T (South and West Asian, with extensions into East Africa and, thinly, in Europe), N (NE European and North Asian) and Q (probably from West Asia).
The genetic relationship between Moldavians and Romanians deserves
special attention, since these two groups speak practically the same
language and share many cultural features. It is reasonable to assume
that Moldavians and Romanians inherited genetic lineages, shared with
other Balkan populations, from Vlachs who, in turn, received them from
Paleo-Balkan tribes. However, Moldavians and Romanians do not form a
cluster that would have separated them from the neighboring populations.
Indeed, in the space of multi-dimensional scaling based on the RST
distances between STR haplotypes, Romanian populations appeared
scattered among the Balkan populations and did not cluster with the
Moldavians (Figure 3). According to the AMOVA analysis, the degree of within-group
differentiation among Moldavian and Romanian populations was
significantly greater than genetic differences between either Romanians
or Moldavians and the group comprised of the Balkan populations (Table 3). Moldavians and Romanians also appear dissimilar on the diagram of binary lineages (PC plot, Figure 2).
Thus, sharing nearly the same language is not accompanied by specific
genetic similarity between Moldavians and Romanians. Furthermore,
Italian populations that share the Romance/Latin language with
Moldavians and Romanians, show little genetic similarity with them.
These results agree with previous genetic studies suggesting that the
genetic landscape of southeast Europe had been formed long before the
modern linguistic/ethnic landscape was shaped , .
In contrast to Romanians and most other Balkan populations, Moldavians
show a clear genetic similarity to western and eastern Slavs. This is
strongly implied by haplogroup R-M17, which dominates the paternal
lineages of the Slavs and is broadly represented in Moldavians. (…)
The noteworthy domination of R-M17 chromosomes in Moldavians compared to
Romanians is due to the R-M458 subclade. Haplogroup R-M458 likely has
its roots in western/northern Poland, where it has its greatest modern
concentration and microsatellite diversity .