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03-30-2018, 03:45 PM
The Croatians and Bosnians are more close to East European populations and largely overlap with Hungarians from Central Europe, while Kosovars and Macedonians cluster closer to Eastern Balkan populations and Gagauzes (Figures 3 and and5).5). Interestingly, the Gagauzes, who geographically locate in East Europe, are more similar to Eastern and Western Balkan populations according to their autosomal profiles (Figure 2, ,33 and and5)5) than to East Europeans. This agrees with the earlier study of the NRY variation suggesting that the Gagauzes descend from northeastern Bulgaria [58]. The Kosovars deviate the most from other Western Balkan populations – note, that among those they have also the biggest similarity to Greeks (Figures 1, ,33 and and5).5). Serbians and Montenegrins have an intermediate position on PCA plot and on Fst –based network among other Western Balkan populations (Figures 3 and and5).5). The relative position of Western Balkan populations to each other on the PCA plot does not considerably change in any combination of first five PC-s
To assess potential admixture between Western Balkan and Middle Eastern populations during the Ottoman rule (15–19cc AD) we first analyzed the number of ibd segments shared per one pair for Western Balkan and Middle Eastern populations. In average, both Muslim (Bosniacs, Kosovars) and non-Muslim (Bosnian Croats and Serbs, Macedonians, Montenegrins, Serbians and Croatians) of the Western Balkan populations share around 1.5 ibd segments per pair with the population from the Middle East (Table S4). This is significantly lower than around 7 ibd segments per pair that Bosniacs and Kosovars share with other non-Muslim WB populations (Figure 7, Table S4). Next, we inspected the average total length of genome shared identical by descent in cM for four length classes between Muslim and non-Muslim populations of Western Balkan vs Middle Eastern populations. We found that all tested Western Balkan populations, irrespective their ethno religious affiliations, demonstrate similar (p = 0.1–0.9) patterns of ibd sharing with Middle Eastern populations for shorter classes of ibd segments (1–2, 2–3, 3–4 cM). This is slightly higher with Turks, and lower with Saudis, Syrians, Iranians and Palestinians (Figure S12). For longer ibd segments only Kosovars have higher ibd relatedness with Palestinians (p = 0.0056 for 4–5 cM ibd segments) and only Bosniacs have higher ibd sharing with Turks (p = 0.0097 for 5–6 cM ibd segments) (Figure S12). However, taking into account that in general the number of shared ibd segments longer than 4 cM detected between Bosniacs, Kosovars and Middle Eastern populations is very low and that higher ibd sharing is not seen for other classes of ibd segments, we cannot consider the excess of long ibd segments between Bosniacs and Turks, and between Kosovars and Palestinians as sufficient evidence of stronger gene flow between Middle Eastern populations and Muslim populations of Western Balkan as compared to non-Muslim Western Balkan populations.
Taken together, analysis of ibd segments reveals similar patterns of ibd sharing for Muslim and non-Muslim Western Balkan populations with populations of Middle East, providing thereby little support to a gene flow scenario during the conversion to Islam (15–19 cc AD) in the Balkans. Our analysis of ibd sharing agrees with other analyses (Figures 2, ,3,3, ,5)5) which indicate higher relatedness for all the Western Balkan populations and Turks as compared to other Middle Eastern populations, most likely due to geographic proximity.
The results of the analysis of mtDNA and NRY are presented in Text S2 and in Supplementary Material (Tables S5-S10, Figures S13-S21). The detailed phylogenetic analysis of maternal lineages of studied here Western Balkan populations (see Tables S5 and Figures S14-18, Text S2) revealed their branching patterns, deeply connected with those of other European and Middle Eastern populations. Like in autosomal analysis, we found only some rare genetic variants from our sample that are not common in European populations. We detected one [0,6% (with 95% credible region (CR) width 0,1–3,1%)] maternal lineage of Eastern Eurasian origin from hg D4 in our sample of Montenegrins (Table S5). Lineages of Eastern Eurasian macrohg M, occasionally seen in many European populations [59] has been detected also in Western Balkan area [29], [30], [33], [39]. An equally minor part [1,1% (CR 0,4–4,0%)] of mtDNAs belong to the set of African origin - two samples of hg L1b was found, one from Serbian and the other from Bosnian Croat population (Table S5). The presence of the same haplotype as well as another African lineage L2a3 has been observed in the region, among Bosnians [29] and Croatians from Korcula island [30], respectively. Outside Africa, the African-specific lineages are the most frequent in populations of the Iberian Peninsula and the Near East, which have experienced the strongest influence of African populations during their history [60], [61]. Regardless, the overall frequency of African lineages in Eurasia [62] is the same as in our sample. The Atlantic slave trade through Portugal, which was the principal destination within Europe [60] and/or the trafficking of African children via the markets of the Ottoman Empire to East Europe in the beginning of 17th century [63] could be one of the reasons for the gene flow from the people of African ancestry to the Western Balkan region.
the results for each Western Balkan population are shown on Figure S13C and D). Here, the Western Balkan populations are closest to their Slavic-speaking neighbours both according to maternal (Czechs and Belarusians, Figure S13A) and paternal (Slovaks, Figure S13B) variation, but it has to be noted that the pooled sample is biased towards northern populations of Western Balkan (Bosnia and Herzegovina, Croatia) and thus represents mostly the variation of this part of the study region. In autosomal analysis, the Bosnians and Croatians are closest to Hungarians, the East Europeans and Eastern Balkan populations are at the same distance from these Western Balkan populations (Figures 3 and S2, S3). East European Slavic-speakers are similar to our pooled Western Balkan sample of PCA also in mtDNA and NRY analyses (Figure S13A and B) and the Hungarians in NRY analysis (Figure S13B). The variation pattern of maternal lineages of the Eastern Balkan populations and Greeks, the most similar populations to southernmost Western Balkan populations (Kosovars, Macedonians, Montenegrins) in autosomal analyses (Figures 2 and and3),3), are with this sample set more close with mtDNA variation of Central European populations, Austrians and Hungarians (Figure S13A). However, the variation pattern of paternal lineages of Greeks brings them closer to Western Balkan populations, notably also to Macedonian Greeks (Figure S13B). Altogether, the results of the PCA of uniparentally inherited markers, like those of autosomal analysis, reflect mostly the importance of geographical factors on the genetic variation of the region.
the Kosovars show the closest affinities among Western Balkan populations to Greeks and other South European populations. In our ibd analysis, we also did not find evidences for specific gene flow from the Middle East to Kosovars, compared to non-Muslim populations of Western Balkan (Figure 7).
Thus, culturally diverse Western Balkan populations are genetically very similar to each other. These results, together with the high-resolution analysis of the variation of mtDNA and NRY, let us to affirm that the genetic profiles of Western Balkan populations resemble that of their closest geographical neighbors
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141785/#!po=22.8477
To assess potential admixture between Western Balkan and Middle Eastern populations during the Ottoman rule (15–19cc AD) we first analyzed the number of ibd segments shared per one pair for Western Balkan and Middle Eastern populations. In average, both Muslim (Bosniacs, Kosovars) and non-Muslim (Bosnian Croats and Serbs, Macedonians, Montenegrins, Serbians and Croatians) of the Western Balkan populations share around 1.5 ibd segments per pair with the population from the Middle East (Table S4). This is significantly lower than around 7 ibd segments per pair that Bosniacs and Kosovars share with other non-Muslim WB populations (Figure 7, Table S4). Next, we inspected the average total length of genome shared identical by descent in cM for four length classes between Muslim and non-Muslim populations of Western Balkan vs Middle Eastern populations. We found that all tested Western Balkan populations, irrespective their ethno religious affiliations, demonstrate similar (p = 0.1–0.9) patterns of ibd sharing with Middle Eastern populations for shorter classes of ibd segments (1–2, 2–3, 3–4 cM). This is slightly higher with Turks, and lower with Saudis, Syrians, Iranians and Palestinians (Figure S12). For longer ibd segments only Kosovars have higher ibd relatedness with Palestinians (p = 0.0056 for 4–5 cM ibd segments) and only Bosniacs have higher ibd sharing with Turks (p = 0.0097 for 5–6 cM ibd segments) (Figure S12). However, taking into account that in general the number of shared ibd segments longer than 4 cM detected between Bosniacs, Kosovars and Middle Eastern populations is very low and that higher ibd sharing is not seen for other classes of ibd segments, we cannot consider the excess of long ibd segments between Bosniacs and Turks, and between Kosovars and Palestinians as sufficient evidence of stronger gene flow between Middle Eastern populations and Muslim populations of Western Balkan as compared to non-Muslim Western Balkan populations.
Taken together, analysis of ibd segments reveals similar patterns of ibd sharing for Muslim and non-Muslim Western Balkan populations with populations of Middle East, providing thereby little support to a gene flow scenario during the conversion to Islam (15–19 cc AD) in the Balkans. Our analysis of ibd sharing agrees with other analyses (Figures 2, ,3,3, ,5)5) which indicate higher relatedness for all the Western Balkan populations and Turks as compared to other Middle Eastern populations, most likely due to geographic proximity.
The results of the analysis of mtDNA and NRY are presented in Text S2 and in Supplementary Material (Tables S5-S10, Figures S13-S21). The detailed phylogenetic analysis of maternal lineages of studied here Western Balkan populations (see Tables S5 and Figures S14-18, Text S2) revealed their branching patterns, deeply connected with those of other European and Middle Eastern populations. Like in autosomal analysis, we found only some rare genetic variants from our sample that are not common in European populations. We detected one [0,6% (with 95% credible region (CR) width 0,1–3,1%)] maternal lineage of Eastern Eurasian origin from hg D4 in our sample of Montenegrins (Table S5). Lineages of Eastern Eurasian macrohg M, occasionally seen in many European populations [59] has been detected also in Western Balkan area [29], [30], [33], [39]. An equally minor part [1,1% (CR 0,4–4,0%)] of mtDNAs belong to the set of African origin - two samples of hg L1b was found, one from Serbian and the other from Bosnian Croat population (Table S5). The presence of the same haplotype as well as another African lineage L2a3 has been observed in the region, among Bosnians [29] and Croatians from Korcula island [30], respectively. Outside Africa, the African-specific lineages are the most frequent in populations of the Iberian Peninsula and the Near East, which have experienced the strongest influence of African populations during their history [60], [61]. Regardless, the overall frequency of African lineages in Eurasia [62] is the same as in our sample. The Atlantic slave trade through Portugal, which was the principal destination within Europe [60] and/or the trafficking of African children via the markets of the Ottoman Empire to East Europe in the beginning of 17th century [63] could be one of the reasons for the gene flow from the people of African ancestry to the Western Balkan region.
the results for each Western Balkan population are shown on Figure S13C and D). Here, the Western Balkan populations are closest to their Slavic-speaking neighbours both according to maternal (Czechs and Belarusians, Figure S13A) and paternal (Slovaks, Figure S13B) variation, but it has to be noted that the pooled sample is biased towards northern populations of Western Balkan (Bosnia and Herzegovina, Croatia) and thus represents mostly the variation of this part of the study region. In autosomal analysis, the Bosnians and Croatians are closest to Hungarians, the East Europeans and Eastern Balkan populations are at the same distance from these Western Balkan populations (Figures 3 and S2, S3). East European Slavic-speakers are similar to our pooled Western Balkan sample of PCA also in mtDNA and NRY analyses (Figure S13A and B) and the Hungarians in NRY analysis (Figure S13B). The variation pattern of maternal lineages of the Eastern Balkan populations and Greeks, the most similar populations to southernmost Western Balkan populations (Kosovars, Macedonians, Montenegrins) in autosomal analyses (Figures 2 and and3),3), are with this sample set more close with mtDNA variation of Central European populations, Austrians and Hungarians (Figure S13A). However, the variation pattern of paternal lineages of Greeks brings them closer to Western Balkan populations, notably also to Macedonian Greeks (Figure S13B). Altogether, the results of the PCA of uniparentally inherited markers, like those of autosomal analysis, reflect mostly the importance of geographical factors on the genetic variation of the region.
the Kosovars show the closest affinities among Western Balkan populations to Greeks and other South European populations. In our ibd analysis, we also did not find evidences for specific gene flow from the Middle East to Kosovars, compared to non-Muslim populations of Western Balkan (Figure 7).
Thus, culturally diverse Western Balkan populations are genetically very similar to each other. These results, together with the high-resolution analysis of the variation of mtDNA and NRY, let us to affirm that the genetic profiles of Western Balkan populations resemble that of their closest geographical neighbors
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141785/#!po=22.8477