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As with all modern European nations, a large degree of 'biological continuity' exists between the [[Bosniaks]] and their ancient predecessors with Bosniak [[Y chromosome|Y chromosomal]] lineages testifying to predominantly [[Paleolithic]] European ancestry.<ref name=marjanovic /><ref name=Pericic /> A majority (>67%) of Bosniaks belong to one of the three major European Y-DNA [[haplogroup]]s:<ref name=marjanovic /> [[Haplogroup I-M438|I2]] (43.50%), [[Haplogroup R1a (Y-DNA)|R1a]] (15.3%) and [[Haplogroup R1b (Y-DNA)|R1b]] (3.5%), while a minority belongs to less frequently occurring haplogroups [[Haplogroup E (Y-DNA)|E-V13]] (12.90%), [[Haplogroup J (Y-DNA)|J]] (7.10%), along with other more rare lineages.<ref name=marjanovic />
As with all modern European nations, a large degree of 'biological continuity' exists between the [[Bosniaks]] and their ancient predecessors with Bosniak [[Y chromosome|Y chromosomal]] lineages testifying to predominantly [[Paleolithic]] European ancestry.<ref name=marjanovic /><ref name=Pericic /> A majority (>67%) of Bosniaks belong to one of the three major European Y-DNA [[haplogroup]]s: [[Haplogroup I-M438|I2]] (43.50%), [[Haplogroup R1a (Y-DNA)|R1a]] (15.3%) and [[Haplogroup R1b (Y-DNA)|R1b]] (3.5%), while a minority belongs to less frequently occurring haplogroups [[Haplogroup E (Y-DNA)|E-V13]] (12.90%), [[J-M410|J2]] (8.7%), along with other more rare lineages.<ref>{{cite journal | year=2005 | last1=Marjanović | first1=D | last2=Fornarino | first2=S | last3=Montagna | first3=S | last4=Primorac | first4=D | last5=Hadžiselimović | first5=R | last6=Vidović | first6=S | last7=Pojskić | first7=N | last8=Battaglia | first8=V | last9=Achilli | first9=A | last10=Drobnić | first10=K. | last11=Andjelinović | first11=S. | last12=Torroni | first12=A. | last13=Santachiara-Benerecetti | first13=A. S. | last14=Semino | first14=O. | display-authors=3| title=The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups | volume=69 | issue=Pt 6 | pages=757–63 | doi=10.1111/j.1529-8817.2005.00190.x | journal=Annals of Human Genetics | pmid=16266413}}</ref>

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Studies based on bi-allelic markers of the NRY (non-recombining region of the Y-chromosome) have shown the three main ethnic groups of Bosnia and Herzegovina (Bosniaks, [[Bosnian Serbs]] and [[Bosnian Croats]]) to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region.<ref>{{cite journal | last1 = Damir | first1 = Marjanović / International Congress Series 1288 (2006) 243-245 | year = 2006 | title = Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents | url = http://www.isfg.org/files/7dd0696f8ae1eb3c87a9a55f7ab04ceeb3d25c1c.05014196_754973465488.pdf | journal = Institute for Genetic Engineering and Biotechnology | volume = | issue = |page=244 | doi= |display-authors=etal}}</ref> Analysis of [[autosomal DNA|autosomal]] [[Short tandem repeats|STRs]] have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.<ref>{{cite journal | last1 = Damir | first1 = Marjanović / International Congress Series 1288 (2006) 243-245 | year = 2006 | title = Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents | url = http://www.isfg.org/files/7dd0696f8ae1eb3c87a9a55f7ab04ceeb3d25c1c.05014196_754973465488.pdf | journal = Institute for Genetic Engineering and Biotechnology | volume = | issue = |page=245 | doi= |display-authors=etal}}</ref>

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==Autosomal DNA of Bosniaks in Bosnia and Herzegovina==

[[File:Plos.Balkans.2.png|thumb|300px|"Admixture plot" of automosal SNPs in Bosniaks on the resolution level of 7 assumed ancestral populations.]]
A 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 (together with Croatians) are by autosomal DNA closest to East European populations and overlap mostly with [[Hungarians]].<ref name="Kovacevic e105090">{{Cite journal|last=Kovacevic|first=Lejla|last2=Tambets|first2=Kristiina|last3=Ilumäe|first3=Anne-Mai|last4=Kushniarevich|first4=Alena|last5=Yunusbayev|first5=Bayazit|last6=Solnik|first6=Anu|last7=Bego|first7=Tamer|last8=Primorac|first8=Dragan|last9=Skaro|first9=Vedrana|date=2014-08-22|title=Standing at the Gateway to Europe - The Genetic Structure of Western Balkan Populations Based on Autosomal and Haploid Markers|url=http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105090|journal=PLOS ONE|volume=9|issue=8|pages=e105090|doi=10.1371/journal.pone.0105090|issn=1932-6203|pmc=4141785|pmid=25148043|bibcode=2014PLoSO...9j5090K}}</ref> Based on analysis of [[Identity by descent|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.<ref name="Kovacevic e105090"/>

==Y-DNA frequency of Bosniaks in Bosnia and Herzegovina==
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Y-DNA studies on Bosniaks (in Bosnia and Herzegovina) show close affinity to other neighboring [[South Slavs]].<ref>{{cite journal | last1 = Novembre | first1 = J | last2 = Johnson | first2 = T | last3 = Bryc | first3 = K | display-authors = etal | year = 2008| title = (November 2008), "Genes mirror geography within Europe | url = | journal = Nature | volume = 456 | issue = 7218| pages = 98–101 | doi=10.1038/nature07331 | pmid=18758442 | pmc=2735096}}</ref> [[Y-DNA]] results show notable frequencies of [[Haplogroup I-M438|I2]] with 43.50% (especially its subclade I2-CTS10228+), [[R-M17|R1a]] with 15.30% (mostly its two subclades R1a-CTS1211+ and R1a-M458+), [[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, Macedonia, Northern Albania, Bulgaria, Romania, Moldova, Slovakia, Ukraine, Belarus and western Russia. In comparison to older research which argued a prehistoric autochthonous origin of the haplogroup I2 in western Balkans,{{refn|group=nb|The SNP I-P37 itself formed approximately 20 thousand [[YBP]] and had [[Most recent common ancestor|TMRCA]] 18 thousand YBP according to YFull,<ref>{{cite web|url=https://www.yfull.com/tree/I-P37/|title=I-P37 YTree v6.07.08|date=10 November 2018|publisher=YFull.com|accessdate=11 November 2018}}</ref> being too old and widespread as an SNP for argumentation of autochthony as well the old research used outdated nomenclature. According to "I-P37 (I2a)" project at [[Family Tree DNA]], the divergence at STR marker DYS448 20 > 19 is reported since 2007,<ref>{{cite web|url=https://www.familytreedna.com/groups/i-2a-hap-group/about/results|title=I2a Y-Haplogroup - Results: I2a2a-Dinaric|publisher=[[Family Tree DNA]]|accessdate=11 November 2018|quote=Ken Nordtvedt has split I2a2-M423-Dinaric into Din-N and Din-S. Din-N is older than Din-S. N=north of the Danube and S=south of the Danube River ... May 8, 2007: Dinaric I1b1 and DYS 448. DYS448 19 for S and 20 for N.}}</ref> while the SNP which defines the STR Dinaric-South cluster, I-PH908, is reported since 2016.<ref>{{cite web|url=http://i2aproject.blogspot.com/2016/09/the-dinaric-south-cluster-is-defined-by.html|title=The Dinaric-South cluster is defined by the SNP PH908|date=23 September 2016|author=Bernie Cullen|work=i2aproject.blogspot.com|publisher=[[Blogger (service)|Blogger]]|accessdate=11 November 2018}}</ref> The SNP I-PH908 at [[ISOGG]] phylogenetic tree is named as I2a1a2b1a1a1c,<ref>{{cite web|url=https://docs.google.com/spreadsheets/d/1WkRe8UxrhMZ-CaYtPET5rIBbzqCNkGER4YJurbG2ESQ/edit#gid=198726360|title=Y-DNA Haplogroup I and its Subclades - 2018|date=1 November 2018|publisher=[[ISOGG]]|accessdate=11 November 2018}}</ref> while formed and had TMRCA approximately 1,800 YBP according to YFull.<ref>{{cite web|url=https://www.yfull.com/tree/I-PH908/|title=I-PH908 YTree v6.07.08|date=10 November 2018|publisher=YFull.com|accessdate=11 November 2018}}</ref>}} the most recent research by O.M. Utevska (2017) found the haplogroups STR [[haplotype]]s 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.{{sfn|Utevska|2017|page=219–226, 302}} 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 [[Slavs|Slavic]] migration. The lack of diversity of "DYS448=19" haplotypes in the Western Balkan also indicate a [[founder effect]].{{sfn|Utevska|2017|page=219–226, 302}} 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 (Peričić et al., 2005) and 47% in Tuzla Canton (Dogan et al., 2016), while R1a increases up to 24.60% and 23% in respective region.<ref>{{cite journal | last1 = Peričić | first1 = M | last2 = Barać Lauc | first2 = L | last3 = Martinović | first3 = I | display-authors = etal | year = 2005| title = High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations. | url = http://svetlost.org/podaci/y_hromozom_beograd_i_balkan.pdf | journal = Molecular Biology and Evolution | volume = 22 | issue = | page = 1966 | doi=10.1093/molbev/msi185 | pmid=15944443 | pmc= }}</ref><ref>{{cite journal | last1 = Dogan | first1 = S | last2 = Babic | first2 = N | last3 = Gurkan | first3 = C | display-authors = etal | year = 2016| title = Y-chromosomal haplogroup distribution in the Tuzla Canton of Bosnia and Herzegovina: A concordance study using four different in silico assignment algorithms based on Y-STR data. | url = https://www.sciencedirect.com/science/article/pii/S0018442X16300592 | journal = Journal HOMO of Comparative Human Biology | volume = 67 | issue = 6 | page = | doi=10.1016/j.jchb.2016.10.003 | pmid=27908490 | pmc= }}</ref> [[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.<ref>{{cite journal | year=2005 | last1=Marjanović | first1=D | last2=Fornarino | first2=S | last3=Montagna | first3=S | last4=Primorac | first4=D | last5=Hadžiselimović | first5=R | last6=Vidović | first6=S | last7=Pojskić | first7=N | last8=Battaglia | first8=V | last9=Achilli | first9=A | last10=Drobnić | first10=K. | last11=Andjelinović | first11=S. | last12=Torroni | first12=A. | last13=Santachiara-Benerecetti | first13=A. S. | last14=Semino | first14=O. | display-authors=3| title=The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups | volume=69 | issue=Pt 6 | pages=757–63 | doi=10.1111/j.1529-8817.2005.00190.x | journal=Annals of Human Genetics | pmid=16266413}}</ref>

===Frequences by region===

{| class="wikitable" style="text-align:center; font-size: 84%"
! Region || Samples || Source<ref>{{cite journal | year=2005 | last1=Marjanović | first1=D | last2=Fornarino | first2=S | last3=Montagna | first3=S | last4=Primorac | first4=D | last5=Hadžiselimović | first5=R | last6=Vidović | first6=S | last7=Pojskić | first7=N | last8=Battaglia | first8=V | last9=Achilli | first9=A | last10=Drobnić | first10=K. | last11=Andjelinović | first11=S. | last12=Torroni | first12=A. | last13=Santachiara-Benerecetti | first13=A. S. | last14=Semino | first14=O. | display-authors=3| title=The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups | volume=69 | issue=Pt 6 | pages=757–63 | doi=10.1111/j.1529-8817.2005.00190.x | journal=Annals of Human Genetics | pmid=16266413}}</ref> || [[Haplogroup E-M215 (Y-DNA)|E1b1b]] || [[Haplogroup G-M201|G]] || [[Haplogroup I1|I1]] ||[[Haplogroup I-M438|I2a1]] || [[Haplogroup J1|J1]]|| [[Haplogroup J2|J2]] || [[Haplogroup F-M89|F*]] || [[Haplogroup T-M184|T]] || [[Haplogroup R1a|R1a]] || [[Haplogroup R1b|R1b]]
|-
| [[Bosnia and Herzegovina]] || 85 || Marjanović et al. (2005) || 12.9% || 3.5% || 4.7% || 43.5% || 2.4% || 8.7% || 3.5% || 1.2% || 15.3% ||3.5%
|}

{| class="wikitable" style="text-align:center; font-size: 84%"
! Region || Samples || Source<ref>{{cite journal | last1 = Peričić | first1 = M | last2 = Barać Lauc | first2 = L | last3 = Martinović | first3 = I | display-authors = etal | year = 2005| title = High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations. | url = http://svetlost.org/podaci/y_hromozom_beograd_i_balkan.pdf | journal = Molecular Biology and Evolution | volume = 22 | issue = | page = 1966 | doi=10.1093/molbev/msi185 | pmid=15944443 | pmc= }}</ref> || [[Haplogroup E-M215 (Y-DNA)|E1b1b]] || [[Haplogroup G-M201|G]] || [[Haplogroup I1|I1]] ||[[Haplogroup I-M438|I2a1]] || [[Haplogroup R1a|R1a]] || [[Haplogroup R1b|R1b]]
|-
| [[Zenica]] || 69 || Peričić et al. (2005) || 10.14% || 4.35% || 1.45% || 52.20% || 24.6% ||1.40%
|}

{| class="wikitable" style="text-align:center; font-size: 84%"
! Region || Samples || Source<ref>{{cite journal | last1 = Dogan | first1 = S | last2 = Babic | first2 = N | last3 = Gurkan | first3 = C | display-authors = etal | year = 2016| title = Y-chromosomal haplogroup distribution in the Tuzla Canton of Bosnia and Herzegovina: A concordance study using four different in silico assignment algorithms based on Y-STR data. | url = https://www.sciencedirect.com/science/article/pii/S0018442X16300592 | journal = Journal HOMO of Comparative Human Biology | volume = 67 | issue = 6 | page = | doi=10.1016/j.jchb.2016.10.003 | pmid=27908490 | pmc= }}</ref> || [[Haplogroup E-M215 (Y-DNA)|E1b1b]] || [[Haplogroup G-M201|G]] || [[Haplogroup I1|I1]] ||[[Haplogroup I-M438|I2a1]] || [[Haplogroup J2|J2]] || [[Haplogroup N-M231|N2]] || [[Haplogroup R1a|R1a]] || [[Haplogroup R1b|R1b]] || [[Haplogroup Q-M242|Q]]
|-
| [[Tuzla Canton]] || 100 || Dogan et al. (2016) || 7% || 2% || 4% || 47% || 7% || 4% || 23% || 5% || 1%
|}

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====Y-DNA frequency in Sandžak====
On the other hand, in the largest part of the historical geo-political region [[Sandžak]] (which is divided between Serbia and Montenegro), the Bosniak population (especially in the municipalities of [[Novi Pazar]], [[Sjenica]], [[Tutin]], [[Petnjica]], [[Rožaje]], [[Plav, Montenegro|Plav]] and [[Gusinje]]) shows closest degree of genetic affinity with neighboring northwestern [[Gheg Albanians|Gheg Albanian]] tribes and Orthodox Christian Serbs and Montenegrins of [[Brda region]]. In these areas, the most common Y-DNA haplogroups are R1b-BY611 and J2b2-M241 (also dominant mainly in Albanians) and the branches of haplogroup E-V13, which is present to a greater extent in the Albanians, Montenegrins, Serbs, Greeks and some other Balkan populations. More to the west in Sandžak region (particularly in the municipalities of [[Prijepolje]], [[Bijelo Polje]] and [[Pljevlja]]) the Bosniak populations tends however to show more similar genetic patterns with neighboring Orthodox Christians and Bosnians, with increasing percentages of Y-DNA haplogroups I2-CTS10228, I1-P109 and R1a-CTS1211.


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Studies based on bi-allelic markers of the NRY (non-recombining region of the Y-chromosome) have shown the three main ethnic groups of Bosnia and Herzegovina (Bosniaks, Bosnian Serbs and Bosnian Croats) to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region.<ref>{{cite journal | last1 = Damir | first1 = Marjanović / International Congress Series 1288 (2006) 243-245 | year = 2006 | title = Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents | url = http://www.isfg.org/files/7dd0696f8ae1eb3c87a9a55f7ab04ceeb3d25c1c.05014196_754973465488.pdf | journal = Institute for Genetic Engineering and Biotechnology | volume = | issue = |page=244 | doi= |display-authors=etal}}</ref> Analysis of [[autosomal DNA|autosomal]] [[Short tandem repeats|STRs]] have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.<ref>{{cite journal | last1 = Damir | first1 = Marjanović / International Congress Series 1288 (2006) 243-245 | year = 2006 | title = Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents | url = http://www.isfg.org/files/7dd0696f8ae1eb3c87a9a55f7ab04ceeb3d25c1c.05014196_754973465488.pdf | journal = Institute for Genetic Engineering and Biotechnology | volume = | issue = |page=245 | doi= |display-authors=etal}}</ref>
[[File:Percentage_of_major_Y-DNA_haplogroups_in_Europe.png|thumb|right|250px|Most represented Y-DNA haplogroups among the Bosnians and other European populations.]]
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==Frequency in Sandžak==
{| class="wikitable" style="text-align:center; font-size: 84%"
{| class="wikitable" style="text-align:center; font-size: 84%"
! Region || Samples || Source<ref>{{cite web |title=Baza bez markera |url=https://bosnjackidnk.com/baza-bez-markera/ |website=Bošnjacki DNK projekat}}</ref> || [[Haplogroup C (Y-DNA)|C]] || [[Haplogroup E-M215 (Y-DNA)|E1b1b]] || [[Haplogroup G-M201|G]] || [[Haplogroup H (Y-DNA)|H]] ||[[Haplogroup I1|I1]] ||[[Haplogroup I-M438|I2a1]] ||[[Haplogroup I-M438|I2a2]] ||[[Haplogroup J1|J1]]|| [[Haplogroup J2|J2]] || [[Haplogroup R1a|R1a]] || [[Haplogroup R1b|R1b]] || [[Haplogroup T (Y-DNA)|T]]
! Region || Samples || Source<ref>{{cite web |title=Baza bez markera |url=https://bosnjackidnk.com/baza-bez-markera/ |website=Bošnjacki DNK projekat}}</ref> || [[Haplogroup C (Y-DNA)|C]] || [[Haplogroup E-M215 (Y-DNA)|E1b1b]] || [[Haplogroup G-M201|G]] || [[Haplogroup H (Y-DNA)|H]] ||[[Haplogroup I1|I1]] ||[[Haplogroup I-M438|I2a1]] ||[[Haplogroup I-M438|I2a2]] ||[[Haplogroup J1|J1]]|| [[Haplogroup J2|J2]] || [[Haplogroup R1a|R1a]] || [[Haplogroup R1b|R1b]] || [[Haplogroup T (Y-DNA)|T]]
|-
|-
| Bosniaks, [[Sandžak]] || 184 || Bosnian DNA Project (2019) || 1,1% || 37,4% || 3,8% || 0,5% || 5,5% || 13,7% || 1,1% || 1,1% || 14,7% || 2,7% || 17,6% ||0,5%
| [[Sandžak]] || 184 || Bosnian DNA Project (2019) || 1.1% || 37.4% || 3.8% || 0.5% || 5.5% || 13.7% || 1.1% || 1.1% || 14.7% || 2.7% || 17.6% ||0.5%
|}
|}


==mtDNA studies on Bosnians==
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==Frequency in Bosnia and Herzegovina==
The [[mtDNA]] studies shows that the Bosnian population partly share similarities with other Southern European populations (especially with mtDNA haplogroups such as pre-HV (today known as [[Haplogroup R0 (mtDNA)|mtDNA haplogroup R0]]), HV2 and U1), 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 [[Germans|German]], [[West Slavs|West Slavic]], [[East Slavs|East Slavic]] and [[Finno-Ugric peoples|Finno-Ugric]] populations. There is especially the observed similarity between Bosnian, [[Russians|Russian]] and [[Finns|Finnish]] samples (with mtDNA subclusters such as U5b1, Z, H-16354, H-16263, U5b-16192-16311 and U5a-16114A). 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.<ref>{{cite journal | last1 = Malyarchuk | first1 = B.A. | last2 = Grzybowski | first2 = T. | last3 = Derenko | first3 = M. V. | display-authors = etal | year = 2003 | title = Mitochondrial DNA Variability in Bosnians and Slovenes | journal = Annals of Human Genetics | volume = 67| issue = 5| pages = 412–425 | doi= 10.1046/j.1469-1809.2003.00042.x| pmid= | pmc=}}</ref>
[[Y chromosome|Y-chromosom]]al [[haplogroup]]s identified among the Bosniaks from Bosnia and Herzegovina are the following:

⚫
*[[Haplogroup I2 (Y-DNA)|I2]], 43.50%.<ref name=marjanovic /> The frequency of this haplogroup, especially its subclade I2-CTS10228, peaks in [[Bosnia and Herzegovina]] (52.20% and 63.80%, by respective region<ref name=Pericic/>), and its variance peaks over a large geographic area covering B-H, Croatia, Serbia, Montenegro, Macedonia, Northern Albania, Bulgaria, Romania, Moldova, Slovakia, Ukraine and Belarus. In comparison to older research which argued a prehistoric autochthonous origin of the haplogroup I2 in western Balkans,{{refn|group=nb|The SNP I-P37 itself formed approximately 20 thousand [[YBP]] and had [[Most recent common ancestor|TMRCA]] 18 thousand YBP according to YFull,<ref>{{cite web|url=https://www.yfull.com/tree/I-P37/|title=I-P37 YTree v6.07.08|date=10 November 2018|publisher=YFull.com|accessdate=11 November 2018}}</ref> being too old and widespread as an SNP for argumentation of autochthony as well the old research used outdated nomenclature. According to "I-P37 (I2a)" project at [[Family Tree DNA]], the divergence at STR marker DYS448 20 > 19 is reported since 2007,<ref>{{cite web|url=https://www.familytreedna.com/groups/i-2a-hap-group/about/results|title=I2a Y-Haplogroup - Results: I2a2a-Dinaric|publisher=[[Family Tree DNA]]|accessdate=11 November 2018|quote=Ken Nordtvedt has split I2a2-M423-Dinaric into Din-N and Din-S. Din-N is older than Din-S. N=north of the Danube and S=south of the Danube River ... May 8, 2007: Dinaric I1b1 and DYS 448. DYS448 19 for S and 20 for N.}}</ref> while the SNP which defines the STR Dinaric-South cluster, I-PH908, is reported since 2016.<ref>{{cite web|url=http://i2aproject.blogspot.com/2016/09/the-dinaric-south-cluster-is-defined-by.html|title=The Dinaric-South cluster is defined by the SNP PH908|date=23 September 2016|author=Bernie Cullen|work=i2aproject.blogspot.com|publisher=[[Blogger (service)|Blogger]]|accessdate=11 November 2018}}</ref> The SNP I-PH908 at [[ISOGG]] phylogenetic tree is named as I2a1a2b1a1a1c,<ref>{{cite web|url=https://docs.google.com/spreadsheets/d/1WkRe8UxrhMZ-CaYtPET5rIBbzqCNkGER4YJurbG2ESQ/edit#gid=198726360|title=Y-DNA Haplogroup I and its Subclades - 2018|date=1 November 2018|publisher=[[ISOGG]]|accessdate=11 November 2018}}</ref> while formed and had TMRCA approximately 1,800 YBP according to YFull.<ref>{{cite web|url=https://www.yfull.com/tree/I-PH908/|title=I-PH908 YTree v6.07.08|date=10 November 2018|publisher=YFull.com|accessdate=11 November 2018}}</ref>}} the most recent research by O.M. Utevska (2017) found the haplogroups STR [[haplotype]]s 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.{{sfn|Utevska|2017|page=219–226, 302}} 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 [[Slavs|Slavic]] migration. The lack of diversity of "DYS448=19" haplotypes in the Western Balkan also indicate a [[founder effect]].{{sfn|Utevska|2017|page=219–226, 302}}
*[[Haplogroup I1 (Y-DNA)|I1]], 4.70%.<ref name=marjanovic /> Men belonging to this haplogroup all descend from a single ancestor who lived in Northern Europe between 10,000 and 7,000 years ago. It is the most common haplogroup in Northern Europe, reaching over 40% of the population in [[Scandinavia]], where it also evolved in isolation during the late Paleolithic and Mesolithic.<ref>Peter A. Underhill et al., New Phylogenetic Relationships for Y-chromosome Haplogroup I: Reappraising its Phylogeography and Prehistory, in Rethinking the Human Revolution (2007), pp. 33–42. P. Mellars, K. Boyle, O. Bar-Yosef, C. Stringer (Eds.) McDonald Institute for Archaeological Research, Cambridge, UK.</ref> Traces of this paternal lineage appear in the areas the [[Germanic peoples|Germanic tribes]] were recorded as having invaded or migrated to.<ref name=genographic>[https://genographic.nationalgeographic.com/atlas.html Genographic Project of National Geographic]{{dead link|date=July 2017 |bot=InternetArchiveBot |fix-attempted=yes }}</ref><ref name=newphylo>"New Phylogenetic Relationships for Y-chromosome Haplogroup I: Reappraising its Phylogeography and Prehistory," Rethinking the Human Evolution, Mellars P, Boyle K, Bar-Yosef O, Stringer C, Eds. McDonald Institute for Archaeological Research, Cambridge, UK, 2007, pp. 33–42 by Underhill PA, Myres NM, Rootsi S, Chow CT, Lin AA, Otillar RP, King R, Zhivotovsky LA, Balanovsky O, Pshenichnov A, Ritchie KH, Cavalli-Sforza LL, Kivisild T, Villems R, Woodward SR</ref> The frequency of haplogroup I1 in western Balkans (or Balkans in general) hints at had a particularly strong [[Goths|Gothic]] and [[Gepids|Gepid]] presence, which is concordant with the establishment of the [[Ostrogothic kingdom]] in the 5th century AD.
*[[R1a]]-M17, 15.30%.<ref name=marjanovic /> The first major expansion of haplogroup R1a took place with the westward propagation of the [[Corded Ware culture|Corded Ware (or Battle Axe) culture]] (2800–1800 BCE) from the northern forest-steppe in the [[Yamna culture|Yamna homeland]]. R1a is thought to have been the dominant haplogroup among the northern and eastern Proto-Indo-European language speakers. The frequency of this haplogroup peaks today in Belarus and Ukraine, and its variance peaks in northern Bosnia and Herzegovina (with 24.60% and 12.06%, by respective region<ref name=Pericic/>). It is the most predominant Y-chromosomal haplogroup in the overall Slavic gene pool.<ref name=marjanovic>Marjanovic, D., ''et al.'' (2005) "The Peopling of Modern Bosnia-Herzegovina: Y-chromosome Haplogroups in the Three Main Ethnic Groups". ''Annals of Human Genetics'' '''69'''. {{doi|10.1111/j.1529-8817.2005.00190.x}} {{PMID|16266413}}.</ref><ref name=Pericic/> The variance of R1a1 in the Balkans might have been enhanced by infiltrations of [[Indo-European languages|Indo-European]] speaking peoples between 2000 and 1000 BC, and by the Slavic migrations to the region in the early Middle Ages.<ref name=marjanovic/><ref name=Pericic/>
*[[Haplogroup E1b1b1a (Y-DNA)|E1b1b1a2]]-V13, 12.90%.<ref name=marjanovic /> E-V13 is one of the major markers of the Neolithic diffusion of farming from the Balkans to rest of the Europe. Its frequency is now far higher in Greece, South Italy and the Balkans.<ref name=Pericic /><ref name=battaglia>{{cite journal | last1 = Battaglia | first1 = Vincenza | year = 2008 | title = Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe | url = | journal = European Journal of Human Genetics | volume = 17 | issue = 6| page = 6 | doi = 10.1038/ejhg.2008.249 | pmid=19107149 | pmc=2947100|display-authors=etal}}</ref> The modern distribution of E-V13 hints at a strong correlation with the Neolithic and Chalcolithic cultures of [[Old Europe (archaeology)|Old Europe]], such as the [[Vinča culture|Vinča]] and [[Karanovo culture|Karanovo]] cultures. E-V13 was later associated with the ancient Greek expansion and colonisation. Outside of the Balkans and Central Europe, it is particularly common in southern Italy, Cyprus and southern France, all part of the [[Ancient Greece|Classical ancient Greek world]]. The current distribution of this lineage might be the result of several demographic expansions from the Balkans, such as that associated with the Neolithic revolution, the Balkan Bronze Age, and more recently, during the Roman era during the so-called "rise of Illyrican soldiery".<ref name=Pericic>{{cite journal |vauthors=Pericić M, Lauc LB, Klarić IM, Rootsi S, Janićijevic B, Rudan I, Terzić R, Colak I, Kvesić A, Popović D, Sijacki A, Behluli I, Dordevic D, Efremovska L, Bajec DD, Stefanović BD, Villems R, Rudan P |year=2005 |title=High-resolution phylogenetic analysis of southeastern Europe traces major episodes of paternal gene flow among Slavic populations |journal=Mol. Biol. Evol. |volume=22 |issue=10 |pages=1964–75 |pmid=15944443 |url=http://mbe.oxfordjournals.org/cgi/content/full/22/10/1964 |doi=10.1093/molbev/msi185 |display-authors=8}}<br/>N.B. The haplogroups' names in the section "Genetics" are according to the nomenclature adopted in 2008, as represented in Vincenza Battaglia (2008) [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947100/figure/fig2/ Figure 2], so they may differ from the corresponding names in Peričić (2005).</ref>
*[[Haplogroup J2 (Y-DNA)|J2a]]-M410, 7.10%<ref name=marjanovic /> Various other lineages of haplogroup J2-M172 are found throughout the Balkans, all with low frequencies. [[Haplogroup J (Y-DNA)|Haplogroup J]] and all its descendants originated in the Middle East. It is proposed that the Balkan [[Mesolithic]] foragers, bearers of I-P37.2 and E-V13, adopted farming from the initial J2 agriculturalists who colonized the region about 7000 to 8000 ybp, transmitting the [[Neolithic]] cultural package.<ref name=battaglia/>
*[[Haplogroup R1b1 (Y-DNA)|R1b]]-M269, 3.50%.<ref name=marjanovic /> Haplogroup R1b is the most common haplogroup in Western Europe, reaching over 80% of the population in Ireland, western Wales and the Basque country. This haplogroup was probably introduced to Europe by farmers migrating from western Anatolia, probably about 7500 years ago and is present in low-to moderate frequencies in Balkan Slavs, and certain in Bosniaks and Bosnian Croats (2.20% and in Bosnia and Herzegovina in general approximately 4%).<ref>Marjanović, Damir; et al.</ref>
*[[Haplogroup G (Y-DNA)|G]]-M201, 3.50%<ref name=marjanovic /> It has been proven by the testing of Neolithic remains in various parts of Europe that haplogroup G2a was one of the lineages of Neolithic farmers and herders who migrated from Anatolia to Europe between 9,000 and 6,000 years ago.<ref>{{cite web|url=http://www.eupedia.com/europe/ancient_european_dna.shtml#Neolithic|title=Frequencies of prehistoric mtDNA and Y-DNA from the European Paleolithic to the Iron Age – Eupedia|work=Eupedia|accessdate=1 May 2016}}</ref>
*[[Haplogroup F (Y-DNA)|F*]]-M89, 3.50%<ref name=marjanovic />
*[[Haplogroup J2 (Y-DNA)|J2b]]-M102, 2.40%<ref name=marjanovic /> J2b seems to have a stronger association with the Neolithic and [[Chalcolithic]] cultures of Southeast Europe. It is particularly common in the Balkans, Central Europe and Italy, which is roughly the extent of the European Copper Age culture. Its maximum frequency is achieved around Albania, Kosovo, Montenegro and Northwest Greece&nbsp;– the part of the Balkans which best resisted the Slavic invasions in the Early Middle Ages.
*[[Haplogroup J1 (Y-DNA)|J1]]-M267, 2.40%<ref name=marjanovic/> Haplogroup J1 is a Middle Eastern haplogroup, which probably originated in eastern Anatolia. This haplogroup is almost certainly linked to the expansion of pastoralist lifestyle throughout the Middle East and Europe. J1 is particularly common in mountainous regions of Europe (with the notable exception of the Alps and the Carpathians), like Caucasus, Greece, Albania, Italy, central France, and the most rugged parts of Iberia.
*[[Haplogroup T (Y-DNA)|T]]-M184, 1.20%<ref name=marjanovic/> The modern distribution T in Europe strongly correlates with the Neolithic colonisation of Mediterranean Europe by Near-Eastern farmers, notably the [[Cardium Pottery]] culture (5000–1500 BCE).
==See also==
==See also==
*[[Genetic studies on Croats]]
*[[Genetic studies on Croats]]

Revision as of 03:25, 20 April 2019

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.[1][2] A majority (>67%) of Bosniaks belong to one of the three major European Y-DNA haplogroups: I2 (43.50%), R1a (15.3%) and R1b (3.5%), while a minority belongs to less frequently occurring haplogroups E-V13 (12.90%), J2 (8.7%), along with other more rare lineages.[3]

Studies based on bi-allelic markers of the NRY (non-recombining region of the Y-chromosome) have shown the three main ethnic groups of Bosnia and Herzegovina (Bosniaks, Bosnian Serbs and Bosnian Croats) to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region.[4] Analysis of autosomal STRs have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.[5]

Autosomal DNA of Bosniaks in Bosnia and Herzegovina

"Admixture plot" of automosal SNPs in Bosniaks on the resolution level of 7 assumed ancestral populations.

A 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 (together with Croatians) are by autosomal DNA closest to East European populations and overlap mostly with Hungarians.[6] 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.[6]

Y-DNA frequency of Bosniaks in Bosnia and Herzegovina

Y-DNA studies on Bosniaks (in Bosnia and Herzegovina) show close affinity to other neighboring South Slavs.[7] Y-DNA results show notable frequencies of I2 with 43.50% (especially its subclade I2-CTS10228+), R1a with 15.30% (mostly its two subclades R1a-CTS1211+ and R1a-M458+), 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, Macedonia, Northern Albania, Bulgaria, Romania, Moldova, Slovakia, Ukraine, Belarus and western Russia. In comparison to older research which argued a prehistoric autochthonous origin of the haplogroup I2 in western Balkans,[nb 1] the most recent research by O.M. Utevska (2017) 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.[13] 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.[13] 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 (Peričić et al., 2005) and 47% in Tuzla Canton (Dogan et al., 2016), while R1a increases up to 24.60% and 23% in respective region.[14][15] 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.[16]

Frequences by region

Region Samples Source[17] E1b1b G I1 I2a1 J1 J2 F* T R1a R1b
Bosnia and Herzegovina 85 Marjanović et al. (2005) 12.9% 3.5% 4.7% 43.5% 2.4% 8.7% 3.5% 1.2% 15.3% 3.5%
Region Samples Source[18] E1b1b G I1 I2a1 R1a R1b
Zenica 69 Peričić et al. (2005) 10.14% 4.35% 1.45% 52.20% 24.6% 1.40%
Region Samples Source[19] E1b1b G I1 I2a1 J2 N2 R1a R1b Q
Tuzla Canton 100 Dogan et al. (2016) 7% 2% 4% 47% 7% 4% 23% 5% 1%

Y-DNA frequency in Sandžak

On the other hand, in the largest part of the historical geo-political region Sandžak (which is divided between Serbia and Montenegro), the Bosniak population (especially in the municipalities of Novi Pazar, Sjenica, Tutin, Petnjica, Rožaje, Plav and Gusinje) shows closest degree of genetic affinity with neighboring northwestern Gheg Albanian tribes and Orthodox Christian Serbs and Montenegrins of Brda region. In these areas, the most common Y-DNA haplogroups are R1b-BY611 and J2b2-M241 (also dominant mainly in Albanians) and the branches of haplogroup E-V13, which is present to a greater extent in the Albanians, Montenegrins, Serbs, Greeks and some other Balkan populations. More to the west in Sandžak region (particularly in the municipalities of Prijepolje, Bijelo Polje and Pljevlja) the Bosniak populations tends however to show more similar genetic patterns with neighboring Orthodox Christians and Bosnians, with increasing percentages of Y-DNA haplogroups I2-CTS10228, I1-P109 and R1a-CTS1211.

Region Samples Source[20] C E1b1b G H I1 I2a1 I2a2 J1 J2 R1a R1b T
Sandžak 184 Bosnian DNA Project (2019) 1.1% 37.4% 3.8% 0.5% 5.5% 13.7% 1.1% 1.1% 14.7% 2.7% 17.6% 0.5%

mtDNA studies on Bosnians

The mtDNA studies shows that the Bosnian population partly share similarities with other Southern European populations (especially with mtDNA haplogroups such as pre-HV (today known as mtDNA haplogroup R0), HV2 and U1), 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 (with mtDNA subclusters such as U5b1, Z, H-16354, H-16263, U5b-16192-16311 and U5a-16114A). 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.[21]

See also

References

  1. ^ Cite error: The named reference marjanovic was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference Pericic was invoked but never defined (see the help page).
  3. ^ Marjanović, D; Fornarino, S; Montagna, S; et al. (2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human Genetics. 69 (Pt 6): 757–63. doi:10.1111/j.1529-8817.2005.00190.x. PMID 16266413.
  4. ^ Damir, Marjanović / International Congress Series 1288 (2006) 243-245; et al. (2006). "Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents" (PDF). Institute for Genetic Engineering and Biotechnology: 244.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  5. ^ Damir, Marjanović / International Congress Series 1288 (2006) 243-245; et al. (2006). "Preliminary population study at fifteen autosomal and twelve Y-chromosome short tandem repeat loci in the representative sample of multinational Bosnia and Herzegovina residents" (PDF). Institute for Genetic Engineering and Biotechnology: 245.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  6. ^ a b Kovacevic, Lejla; Tambets, Kristiina; Ilumäe, Anne-Mai; Kushniarevich, Alena; Yunusbayev, Bayazit; Solnik, Anu; Bego, Tamer; Primorac, Dragan; Skaro, Vedrana (2014-08-22). "Standing at the Gateway to Europe - The Genetic Structure of Western Balkan Populations Based on Autosomal and Haploid Markers". PLOS ONE. 9 (8): e105090. Bibcode:2014PLoSO...9j5090K. doi:10.1371/journal.pone.0105090. ISSN 1932-6203. PMC 4141785. PMID 25148043.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ Novembre, J; Johnson, T; Bryc, K; et al. (2008). "(November 2008), "Genes mirror geography within Europe". Nature. 456 (7218): 98–101. doi:10.1038/nature07331. PMC 2735096. PMID 18758442.
  8. ^ "I-P37 YTree v6.07.08". YFull.com. 10 November 2018. Retrieved 11 November 2018.
  9. ^ "I2a Y-Haplogroup - Results: I2a2a-Dinaric". Family Tree DNA. Retrieved 11 November 2018. Ken Nordtvedt has split I2a2-M423-Dinaric into Din-N and Din-S. Din-N is older than Din-S. N=north of the Danube and S=south of the Danube River ... May 8, 2007: Dinaric I1b1 and DYS 448. DYS448 19 for S and 20 for N.
  10. ^ Bernie Cullen (23 September 2016). "The Dinaric-South cluster is defined by the SNP PH908". i2aproject.blogspot.com. Blogger. Retrieved 11 November 2018.
  11. ^ "Y-DNA Haplogroup I and its Subclades - 2018". ISOGG. 1 November 2018. Retrieved 11 November 2018.
  12. ^ "I-PH908 YTree v6.07.08". YFull.com. 10 November 2018. Retrieved 11 November 2018.
  13. ^ a b Utevska 2017, p. 219–226, 302.
  14. ^ Peričić, M; Barać Lauc, L; Martinović, I; et al. (2005). "High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations" (PDF). Molecular Biology and Evolution. 22: 1966. doi:10.1093/molbev/msi185. PMID 15944443.
  15. ^ Dogan, S; Babic, N; Gurkan, C; et al. (2016). "Y-chromosomal haplogroup distribution in the Tuzla Canton of Bosnia and Herzegovina: A concordance study using four different in silico assignment algorithms based on Y-STR data". Journal HOMO of Comparative Human Biology. 67 (6). doi:10.1016/j.jchb.2016.10.003. PMID 27908490.
  16. ^ Marjanović, D; Fornarino, S; Montagna, S; et al. (2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human Genetics. 69 (Pt 6): 757–63. doi:10.1111/j.1529-8817.2005.00190.x. PMID 16266413.
  17. ^ Marjanović, D; Fornarino, S; Montagna, S; et al. (2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human Genetics. 69 (Pt 6): 757–63. doi:10.1111/j.1529-8817.2005.00190.x. PMID 16266413.
  18. ^ Peričić, M; Barać Lauc, L; Martinović, I; et al. (2005). "High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations" (PDF). Molecular Biology and Evolution. 22: 1966. doi:10.1093/molbev/msi185. PMID 15944443.
  19. ^ Dogan, S; Babic, N; Gurkan, C; et al. (2016). "Y-chromosomal haplogroup distribution in the Tuzla Canton of Bosnia and Herzegovina: A concordance study using four different in silico assignment algorithms based on Y-STR data". Journal HOMO of Comparative Human Biology. 67 (6). doi:10.1016/j.jchb.2016.10.003. PMID 27908490.
  20. ^ "Baza bez markera". Bošnjacki DNK projekat.
  21. ^ Malyarchuk, B.A.; Grzybowski, T.; Derenko, M. V.; et al. (2003). "Mitochondrial DNA Variability in Bosnians and Slovenes". Annals of Human Genetics. 67 (5): 412–425. doi:10.1046/j.1469-1809.2003.00042.x.

Note

  1. ^ The SNP I-P37 itself formed approximately 20 thousand YBP and had TMRCA 18 thousand YBP according to YFull,[8] being too old and widespread as an SNP for argumentation of autochthony as well the old research used outdated nomenclature. According to "I-P37 (I2a)" project at Family Tree DNA, the divergence at STR marker DYS448 20 > 19 is reported since 2007,[9] while the SNP which defines the STR Dinaric-South cluster, I-PH908, is reported since 2016.[10] The SNP I-PH908 at ISOGG phylogenetic tree is named as I2a1a2b1a1a1c,[11] while formed and had TMRCA approximately 1,800 YBP according to YFull.[12]
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