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Study link:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699876/
"(...) Genetic studies of population isolates have great potential to provide a unique insight into genetic differentiation and phenotypic expressions. Galičnik village is a population isolate located in the northwest region of the Republic of North Macedonia, established around the 10th century. (...) The genetic isolation and small effective population size of Galičnik village have resulted in a high level of genomic homogeneity, with domination of R1a-M458 and R1b-U106* haplogroups. (...)"
Genetic Context of the Galičnik Population
3.2.1. Y Chromosome
In order to assess Y-chromosome diversity, 44 chromosomes were analyzed for 16 biallelic and 17 STR markers. The vast majority of individuals (56.8%) belonged to haplogroup R1a1a1b1a1 (M458), with the second most common haplogroup being R1b1a1a2 (25%, M269), which further divides into R1b1a1a2a1a1 (13.6%, U106) and R1b1a1a2a1a* (11.4%, U106*). The remaining individuals belonged to haplogroup G2a (11.4%, P15) or haplogroup E1b1b (4.5%, M215).
"Analysis of population-wide Y-chromosome variation in Galičnik village showed dominance of haplogroup R1a-M458. (...) R1a-M458 is a sub-haplogroup of R1a1a and is the most common Slavic haplogroup among West and East Slavic populations, with the maximum peak in the Polish population, at 30% [19]. This result would be in agreement with the historical events of the Galičnik population since it is believed that Galičnik village was established in the 10th century by a Slavic tribe (Mijak) migrating from the Thessalonica region in Greece. It is known from historical written sources that many Slav tribes settled in the 580s in the region of Thessalonica, which became known as “Macedonian Sclavinia” [46]. The high frequency of haplogroup R1a-M458 could reflect the Slavic origin of the Galičnik population. Furthermore, the high level of the R1a-M458 haplogroup aligns the Galičnik population with other West Slavic populations, as seen by PCA. The especially high level of clustering between the Galičnik and Polish populations can be attributed to the high level of the R1a-M458 haplogroup in both populations. In addition to PCA, MDS analysis based on Y-STR data also highlighted the strong genetic affiliations of the Galičnik population with West Slavic populations, especially Polish, confirming a genetic affiliation on the haplotypic level. The second most common haplogroups in the Galičnik population are R1b-M269 and R1b-U106. In the context of European populations, R1b-M269 reaches maximum frequencies in the eastern area of the Rhine river basin [18]. As described by the Haak et al. [47] study based on ancient DNA samples, both haplogroups R1a and R1b are connected to the arrival of Yamnaya pastoralists from the steppe during the Late Neolithic. In the context of the migration processes of the Galičnik population, R1b and G2a haplogroups may be linked to the older settlers of this area, known as Vlachs or Kuco-vlachs, which refers to the Celtic and Middle East origin of these tribes. Celtic archeological finds have recently been made in the western part of the Republic of North Macedonia, especially around Lake Ohrid [48,49].
(...)
To visualize the genetic relationships between populations, we performed principal component analysis on the basis of raw frequencies of biallelic markers of 1824 individuals from 14 European populations (Figure 3). The first two principal components explained 68.2% of the variance, with the Galičnik samples grouping together with the Polish population and close to Slovenian, Croatian, Slovakian, and Czech samples. The Bulgarian, Montenegrin, Macedonian, Serbian, and Bosnian samples formed a separate cluster at the negative pole, while Austrian and Italian samples formed a separate cluster at the positive one. The first principal component (42.2%) represents a north-to-south cline, with the Balkan populations on one side and the Austrian and Italian samples on the opposite side, with the exception of the Galičnik population, which is grouped together with West Slavic and Slovenian samples. The second principal component (26.0%) placed Galičnik and Polish samples apart from other populations at the negative pole, and Bulgarian, Montenegrin, Austrian, and Italian samples at the positive pole (Figure 3)."
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