Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis

Abstract

BackgroundAs a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impacts on the genetic structure of mitochondrial DNA (mtDNA) in historical Romanian provinces. We studied 714 Romanians from all historical provinces, Wallachia, Dobrudja, Moldavia, and Transylvania, by analyzing the mtDNA control region and coding markers to encompass the complete landscape of mtDNA haplogroups.ResultsWe observed a homogenous distribution of the majority of haplogroups among the Romanian provinces and a clear association with the European populations. A principal component analysis and multidimensional scaling analysis supported the genetic similarity of the Wallachia, Moldavia, and Dobrudja groups with the Balkans, while the Transylvania population was closely related to Central European groups. These findings could be explained by the topology of the Romanian territory, where the Carpathian Arch played an important role in migration patterns. Signals of Asian maternal lineages were observed in all Romanian historical provinces, indicating gene flow along the migration routes through East Asia and Europe.ConclusionsOur current findings based on the mtDNA analysis of populations in historical provinces of Romania suggest similarity between populations in Transylvania and Central Europe, supported both by the observed clines in haplogroup frequencies for several European and Asian maternal lineages and MDS analyses.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-017-0487-5) contains supplementary material, which is available to authorized users.

Maternal DNA lineages at the gate of Europe in the 10th century AD

“…The most frequent hg detected in Capidava population is H. This is the dominant maternal lineage among modern-day Europeans, encompassing over 40% of the total mtDNA variation in most of Europe [ 59 ]. However, its frequency observed in the analyzed medieval population is lower than it is in most contemporary European populations and in some historical Romanian provinces, other than Dobruja and Moldavia [ 8 , 15 ]. It is important to note that the small sample size only allowed for rough comparisons.…”

“…A few studies attempted to evaluate their genetic relationship with other Eurasians [ 9 – 11 ], whereas some focused on mtDNA variation in minority groups [ 12 – 14 ]. To shed light on possible past migratory routes, a recent study pointed that contemporary distribution pattern of mtDNA haplogroups in the historical provinces of Romania is mostly governed by genetic affinities towards the Balkans, whereas the Transylvanian population is more closely related to Central European groups [ 15 ]. The genetic makeup of modern populations is the reflection of complex interactions between local and external genetic pools with variable dimensions and distributions.…”

A genetic portrait of the South‐Eastern Carpathians based on autosomal short tandem repeats loci used in forensics

“…Studies on Y‐chromosomal markers underlined the Carpathian arch as a boundary for Y‐chromosomal haplogroup frequencies (Rootsi et al, ; Stefan et al, ; Underhill et al, ; Varzari et al, ), though introgression across this barrier was linguistically and genetically documented (Csányi et al, ; Martinez‐Cruz et al, ). A weak yet greater affinity of Transylvania with central Europe was reported based on mtDNA (Cocoş et al, ; Hervella et al, ). The 16 forensic STRs used here confirmed the broad picture, but the maps of sPC scores and migration rates did not outline the same geographic barrier.…”

“…Romania and the Republic of Moldova occupy a key position in the Balkan Peninsula, covering a geographically heterogeneous territory with an internal highland area (Transylvania) delimited by a mountain ridge (the Carpathian Mountains) which separates it from the plains both Eastwards and the Southwards. Studies on contemporary population samples have inferred multiple historical migratory inputs in this area over the centuries (Cocoş et al, ; Hervella et al, ; Turchi et al, ; Varzari et al, ), which resulted in a complex picture of genetic heterogeneity among these populations, poorly studied so far.…”

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

“…In the field of forensic genetics, the mtDNA is also a so-called historical marker analyzed by Sanger sequencing technologies [179]. This method combined with capillary array instrumentation or the application of pyrosequencing technology was previously ubiquitous in laboratories [180,181] and is currently still in use [182][183][184].…”