Genetic studies on Bosniaks


As with all modern European nations, a large degree of 'biological continuity' exists between the Bosniaks and their ancient predecessors with Bosniak Y chromosomal lineages testifying to predominantly Paleolithic European ancestry. A majority of Bosniaks belong to one of the three major European Y-DNA haplogroups: I2, R1a and R1b, while a minority belongs to less frequently occurring haplogroups E-V13 and J2, along with other more rare lineages.
Studies based on bi-allelic markers of the NRY have shown the three main ethnic groups of Bosnia and Herzegovina to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region. Analysis of autosomal STRs have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.

Autosomal DNA of Bosniaks in Bosnia and Herzegovina

An autosomal analysis study of 90 samples showed that Western Balkan populations had a genetic uniformity, intermediate between South Europe and Eastern Europe, in line with their geographic location. According to the same study, Bosnians are by autosomal DNA closest to East European populations and overlap mostly with Hungarians. In the 2015 analysis, Bosnians formed a western South Slavic cluster with the Croatians and Slovenians in comparison to eastern cluster formed by Macedonians and Bulgarians with Serbians in the middle. The western cluster has an inclination toward Hungarians, Czechs, and Slovaks, while the eastern cluster toward Romanians and some extent Greeks. Based on analysis of IBD sharing, Middle Eastern populations most likely did not contribute to genetics in Islamicized populations in the Western Balkans, including Bosniaks, as these share similar patterns with neighboring Christian populations.

Y-DNA frequency of Bosniaks in Bosnia and Herzegovina

Y-DNA studies on Bosniaks show close affinity to other neighboring South Slavs. Y-DNA results show notable frequencies of I2 with 43.50%, R1a with 15.30%, E-V13 with 12.90% and J-M410 with 8.7%.
The frequency of haplogroup I2, especially its subclade I2-CTS10228 and its variance, peaks over a large geographic area covering Bosnia and Herzegovina, Croatia, Serbia, Montenegro, North Macedonia, Albania, Bulgaria, Romania, Moldova, Slovakia, Ukraine, Belarus, Poland and western Russia. In comparison to older research which argued a prehistoric autochthonous origin of the haplogroup I2 in western Balkans, the most recent research by O. M. Utevska found the haplogroups STR haplotypes have the highest diversity in Ukraine, with ancestral STR marker result DYS448=20 comprising "Dnieper-Carpathian" cluster, while younger derived result DYS448=19 comprising the "Balkan cluster" which is predominant among the South Slavs, but can also be found in East and West Slavic populations. The clusters divergence and gradual expansion from the Carpathians in the direction of the Balkan peninsula happened approximately 2,860 ± 730 years ago, coinciding with the Slavic migration. The lack of diversity of DYS448=19 haplotypes in the Western Balkan also indicate a founder effect. The preceding upstream SNP's of I2-CTS10228>S17250 might have been a major lineages of the Cucuteni-Trypillian culture in nowdays western Ukraine and in the Baden culture of the Calcholitic Carpathian Basin. Single-nucleotide polymorphism analysis shows that haplogroup I2-CTS10228 is 2200 ± 300 years old. SNP diversity of the older subgroups downstream of I2-CTS10228 clade indicates that the groups demographic expansion occurred from the area of nowadays southeastern Poland.
Y-DNA studies done for the majority Bosniak populated city of Zenica and Tuzla Canton, shows however a drastic increase of the two major haplogroups I2 and R1a. Haplogroup I2 scores 52.20% in Zenica and 47% in Tuzla Canton, while R1a increases up to 24.60% and 23% in respective region. Principal component analysis of Y-chromosomal haplogroup frequencies among the three ethnic groups in Bosnia and Herzegovina, Serbs, Croats, and Bosniaks, showed that Bosnian Serbs and Bosniaks are by Y-DNA closer to each other than either of them is to Bosnian Croats.

Frequencies by region

RegionSamplesSourceE1b1bGI1I2a1J1J2F*K*R1aR1b
Bosnia and Herzegovina85Marjanović et al. 12.94%=3.53%=4.71%43.53%=2.35%=8.7%3.53%1.18%=15.29%=3.53%

RegionSamplesSourceE1b1bGI1I2a1J2aJ2bNR1aR1b
Bosnia and Herzegovina100Doğan et al. 17%1%4%49%5%2%1%17%4%

RegionSamplesSourceE1b1bGI1I2a1R1aR1b
Zenica69Peričić et al. 10.15%=4.35%=1.45%=52.17%=24.64%=1.45%=

RegionSamplesSourceE1b1bGI1I2a1J2N2QR1aR1b
Tuzla Canton100Dogan et al. 7%2%4%47%7%4%1%23%5%

Mitochondrial DNA

Genetically, on the maternal X chromosome line, a majority of Bosnians belong to three of the eleven major European mtDNA haplogroups - H, U and J, while a large minority belongs to other rare mitochondrial lineages. The mtDNA studies shows that the Bosnian population partly share similarities with other Southern European populations, but are for the mostly featured by a huge combination of mtDNA subclusters that indicates a consanguinity with Central and Eastern Europeans, such as modern German, West Slavic, East Slavic and Finno-Ugric populations. There is especially the observed similarity between Bosnian, Russian and Finnish samples. The huge differentiation between Bosnian and Slovene samples of mtDNA subclusters that are also observed in Central and Eastern Europe, may suggests a broader genetic heterogeneity among the Slavs that settled the Western Balkans during the early Middle ages.